ASSHG Program, 2014

ashg.
org/2014meeting
Discover • Network • Collaborate
ashg.org #ASHG14
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Welcome to the ASHG
64th Annual Meeting
Name:
Email:
TABLE OF CONTENTS
ASHG’s Mission/Vision/2014 Board of Directors .................................................. 4
Welcome from the 2014 President .......................................................................... 5
2014 ASHG Program Committee Members ............................................................ 6
Welcome from the 2014 Program Chair .................................................................. 7
2014 ASHG Abstract Reviewers ............................................................................... 9
Annual Meeting Support ......................................................................................... 11
Schedules ........................................................................................................... 15–34

Scientific Sessions and Ancillary/Exhibitor Education Events............................... 16
Expo Ed: Exhibit Theater ........................................................................................ 33
Professional Development Theater/Trainee Lounge/Career Resources ............... 34
Maps
San Diego Convention Center ................................................................................ 35
San Diego Marriott Hotel & Marina (Headquarters Hotel) ..................................... 37
Hotel Locator Map .................................................................................................. 39
General Information
About the Meeting................................................................................................ 41
Abstracts/Abstract Search ................................................................................. 41
Invited Sessions .................................................................................................. 41
Featured Plenary Presentations (abstract-driven) .............................................. 41
Platform/Poster Sessions (abstract-driven) ....................................................... 41
Mobile App .......................................................................................................... 42
Social Media Policy ............................................................................................. 42
Internet/Wi-Fi/Cyber Café ................................................................................. 42
Photography/Camera/Recording Policy ............................................................ 42
Food Service ....................................................................................................... 42
Registration/Badge and Program Pickup ......................................................... 43
Registration Categories/Hours/Fees .................................................................. 43
Replacement/Lost/Forgotten Badge.................................................................. 43
Meeting Offices and Key Locations ................................................................... 44
ASHG Trainee Lounge.......................................................................................... 45
Charles J. Epstein Trainee Awards for Excellence in

Human Genetics Research: Finalists and Semifinalists
About the Awards/18 Finalists ............................................................................ 46
List of Semifinalists ............................................................................................. 48
FASEB MARC Travel Awardees .............................................................................. 49
INVITED, PLENARY, AWARD AND PLATFORM SESSIONS SCHEDULE

Session #1 through Session #77 .................................................................51–102
Poster Sessions ............................................................................................. 103–200

Poster Mounting/Removal Hours/Author Presentation Times............................. 103
Poster Walks Schedule......................................................................................... 104
Poster Sessions by Topic ..................................................................................... 105
Exhibitors
TABLE OF CONTENTS 3
Exhibit Hall Features and Hours ........................................................................... 201
Floor Plan of Exhibit and Poster Area .................................................................. 203
Alpha Listing of Exhibitors/Company Description .............................................. 205
Continuing Education (CEU/CME/PACE CEU Credits) ..................................... 233

Speaker and Author Disclosures/Conflict-of-Interest ...................................... 237
Speaker Instructions and Presentation Guidelines........................................... 240
Invited Speaker and First Author Index............................................................... 243
Advertisers ............................................................................................................. 257
AMERICAN SOCIETY OF HUMAN GENETICS
DISCOVER • EDUCATE • ADVOCATE
www.ashg.org
The American Society of Human Genetics (ASHG), founded in 1948, is the primary
professional membership organization for human genetics specialists worldwide. The
Society’s nearly 8,000 members are scientists, health care professionals, and others
with an interest in human genetics who work in a wide range of settings, including
universities, hospitals, institutes, and medical and research laboratories.
ASHG Mission
ASHG’s mission is to advance human genetics in science, health, and society
through excellence in research, education, and advocacy.
Vision
Members of ASHG enter the 21st century with a commitment to become fluent in the
language of the genome, understand human variation, and promote the public health.
As we transfer new knowledge to the next generation of genetics professionals and the
public, we will translate new ideas into improved clinical practice.
2014 Board of Directors
Cynthia C. Morton, President
Neil J. Risch, President-Elect Directors:

Brendan Lee, Secretary Han G. Brunner
Geoffrey M. Duyk, Treasurer Sally A. Camper
Vivian G. Cheung
Mary-Claire King, Past President 2012 Evan E. Eichler
Jeffrey C. Murray, Past President 2013 William A. Gahl
Richard A. Gibbs
David L. Nelson, Editor Helen H. Hobbs
Elaine A. Ostrander,
Stephen W. Scherer
5
WELCOME FROM THE PRESIDENT

Welcome to our 2014 Annual Meeting in San Diego, a terrific city in which
we have met on several previous occasions and where we have enjoyed
our visits together immensely. The theme I have chosen for this meeting is
“The Time of Our Lives.”
I have had the good fortune over the past 35 years to have a career as a
human and medical geneticist, and I can assure you that in every one of those
years I have witnessed important discoveries. Never before, however, has it
been so clear that the study of the human genome will impact human health
and medicine in such a profound way. With that perspective, it is a moment
of great privilege and responsibility, and the path we take now will be a legacy
for humankind. It is surely “The Time of Our Lives” as human geneticists.
Our annual meeting is a wonderful reunion of geneticists from across the lifespan and from
around the globe--from those who are the founders of our discipline to the trainees who will
become our future leaders. Here we embrace old friends and make new ones, we celebrate
remarkable accomplishments of colleagues, and we witness progress not imagined only a
few short years ago. We work hard and we play hard, and we have “The Time of Our Lives”.
During this meeting we celebrate the 65th anniversary of The American Journal of Human
Genetics, our Society’s highly regarded journal that publishes a record of research and review
relating to heredity in humans and to the application of genetic principles in medicine and public
policy, as well as in related areas of molecular and cell biology. A special “Best of the AJHG”
anniversary issue, which awaits you at the meeting, includes a collection of articles published
over the years illustrating changes the field has undergone and highlighting the rich tradition
of the Journal. For many of us, paging through this issue will be a nostalgic experience. For
younger members, who may be reading these papers for the first time, it will provide perspective
on the numerous fundamental contributions of human geneticists over more than six decades.
Be sure to stop by the AJHG booth to speak with the AJHG Editors about this record of our
history and about the next paper you plan for submission to our Journal!
Throughout this year we have begun to implement various initiatives from a strategic planning
process undertaken by the Board of Directors. You will see some of that planning roll out here
in San Diego. An important focus is on trainees. A new feature of the meeting is the “Poster
Walk,” which will be an opportunity for trainees to spend time reviewing selected posters with
an expert member in a selected area of interest. Trainees will be taking their places on ASHG
Committees that will meet here this week, and we will welcome an elected trainee as a full
member of the Board of Directors. Another important focus of our strategic plan will be an
enhanced educational effort in genetics directed at healthcare professionals. Exciting plans
are already underway, and further information will be available from ASHG staff at the Society
booth (ASHG Central) in the Exhibit Hall and in reports during the open Business Meeting of the
Society on Wednesday.
It’s a wonderful honor for me to serve as your President. I look forward to visiting with many
of you over the coming days. Enjoy being in San Diego, enjoy the fellowship of your friends
and colleagues, enjoy learning about some amazing science, and enjoy yet another fabulous
annual meeting of the American Society of Human Genetics. Enjoy “The Time of Our Lives!”
With warmest wishes,
Cynthia Casson Morton
ASHG President
Brigham and Women’s Hospital and Harvard Medical School
6 PROGRAM COMMITTEE
AMERICAN SOCIETY oF HUMAN GENETICS 64TH

Annual Meeting
October 18–22, 2014 • San Diego, California
ASHG gratefully acknowledges the expertise, hard work, and
dedication of the 2014 Program Committee
************************************
2014 Program Committee
Andrew S. McCallion, Chair
Joshua Akey Ruth Loos
Anthony Antonellis Daniel MacArthur
Dimitri Avramopoulos Karen Mohlke
Joann Bodurtha Doug Mortlock
Gregory M. Enns Kelly E. Ormond
Clair A. Francomano Tayfun Ozcelik
Christian Gilissen Sharon E. Plon
Chris Gunter Barbara R. Pober
Madhuri Hegde Michael A. Province
Sekar Kathiresan Michael R. Speicher
Suzanne M. Leal Rosanna Weksberg
Guillaume Lettre Michael E. Zwick
************************************
7
WELCOME FROM THE PROGRAM CHAIR

On behalf of the ASHG Program Committee and the Board of
Directors, welcome to the Society’s 64th Annual Meeting in San
Diego! This is truly an exciting time to be in human genetics.
The 2014 Program Committee has developed an exceptional
program. This year, we received 3566 abstracts, from which
406 were chosen for plenary/platform oral presentations and
more than 3100 are being presented as scientific posters. In
addition, there are 16 invited sessions chosen from submitted
proposals. The Program Committee has worked to assemble
an exciting and fulfilling scientific program that balances
basic, translational, and clinical research with sessions that
address timely issues. The schedule features separate tracks (trainee, clinical, social
issues, and education) to help you select the sessions most relevant to your interests.
The meeting begins on Saturday at 5:00 pm with the Presidential Address “The
Time of Our Lives” by Cynthia Morton. The address will be streamed live on the
ASHG website and will be followed by the first of three sets of featured plenary
presentations. A distinguished speakers’ symposium highlighting challenges and
opportunities presented by big data in the genomics era has been scheduled for
Sunday morning. This symposium, entitled Separating Signal from Noise, features
speakers from Google, IBM Thomas J. Watson Research Center, and the CDC.
Each day will feature concurrent platform presentations, and poster presentations.
Invited sessions are scheduled on Sunday and Wednesday mornings. This year’s
welcome reception is being held on Sunday, in the exhibit hall, to encourage
networking. The poster topic categories are natural convening sites if you’re looking
for a colleague in your discipline. The Society’s Board of Directors and the Program
Committee continue to share a strong commitment to the academic and career
development of trainees. The Program offers several events designed to assist our
trainee members in their transition toward professional independence.
In response to survey requests from prior meeting attendees, the Program Committee
is introducing a range of new initiatives this year, including a joint symposium with the
European Society of Human Genetics addressing uncertainty in genomic sequencing,
multiple invited speaker sessions proposed and moderated by trainees, a joint satellite
symposium with the American Society for Bioethics and Humanities, poster walks,
featured abstract-driven plenary sessions on Monday and Tuesday mornings, and
the Genetics Portrait Project Interactive Art Exhibit, which uses art to explore current
perceptions of genetics research and its implications for the future.
I hope that you enjoy the meeting, and again, a warm welcome to San Diego.
Andy McCallion
Program Committee Chair
Johns Hopkins University
8 WELCOME FROM THE PROGRAM CHAIR
Feedback: To determine whether the programmatic changes we implemented were

successful, and to gather suggestions for future meetings, we will be sending an online
survey after the meeting to all attendees. Please take the time to complete the survey
and provide us with valuable feedback that we can consider for future meetings. As
this year demonstrates, we DO use your feedback to continually improve our meeting.
Acknowledgments: Developing a program for the ASHG Annual Meeting is

a complex process, requiring the coordinated efforts of many individuals over
thousands of person-hours. This past year, I have had the privilege of working with
a truly exceptional Program Committee – each member generously volunteering his
or her expertise and time to develop an outstanding scientific program. I am also
grateful to the Information and Education, Social Issues, and Awards committees for
their valuable contributions to the meeting. Finally, my deepest appreciation goes to
our ASHG administrative staff for their enthusiastic dedication and tireless work in
making our Annual Meeting the success that it is.
Policy Change: This year, after thorough deliberation, ASHG has changed its policy
to allow members of the Program Committee (PC) to be first authors on abstracts and
to present during sessions at the annual meeting. We have made this change to help
ensure that PC members are not precluded from presenting their own research at the
world’s largest genetics meeting during their three-year service on the committee.
We are confident that the external-review process that applies to all abstracts and
proposals for invited sessions addresses potential concerns about conflict-of-interest.
9
ABSTRACT REVIEWERS
ASHG gratefully acknowledges the expertise, hard work, and
dedication of the 2014 Abstract Reviewers.
*Indicates 2014 Program Committee Member
Bioinformatics and Complex Traits and Genetics/Genomics
Genomic Technology Polygenic Disorders Education
*Chris Gunter *Karen Mohlke *Joann Bodurtha
*Daniel MacArthur *Sekar Kathiresan Arti Pandya
*Christian Gilissen *Ruth Loos Siobhan M. Dolan
Deanna M. Church Soumya Raychaudhuri
Yaniv Erlich Michael A. Hauser Genome Structure,
Aaron Quinlan Karen N. Conneely Variation and Function
*Michael R. Speicher
Cancer Genetics Cytogenetics *Doug Mortlock
*Sharon E. Plon *Michael R. Speicher Sebastien Jacquemont
*Rosanna Weksberg Terry Hassold Santhosh Girirajan
John D. McPherson Anne Bassett Reid S. Alisch
Paul Scheet John A. Capra
Stephen Meyn Development
Sam Hanash *Doug Mortlock Health Services Research
Reid S. Alisch *Joann Bodurtha
Cardiovascular Genetics John A. Capra Arti Pandya
*Guillaume Lettre Kevin Sweet
Paul Livermore Auer Epigenetics
Calum MacRae *Rosanna Weksberg Metabolic Disorders
John M. Greally *Gregory M. Enns
Clinical Genetics and Marisa Bartolomei William L. Nyhan
Dysmorphology Stephen Cederbaum
*Barbara R. Pober Ethical, Legal, Social and
*Clair A. Francomano Policy Issues in Genetics Molecular Basis of
Daryl A. Scott *Kelly E. Ormond Mendelian Disorders
David Chitayat Joann Bodurtha *Anthony Antonellis
Ozlem Goker-Alpan Jennifer B. McCormick *Tayfun Ozcelik
Mitzi L. Murray Stephanie Bielas
Evolutionary and Marina Kennerson
Clinical Genetic Testing Population Genetics Alessandra Renieri
*Madhuri Hegde *Joshua Akey Mustafa Tekin
Katie Rudd Jeffrey M. Kidd
Marwan K. Tayeh Joseph Pickrell Pharmacogenetics
*Gregory M. Enns
Genetic Counseling William L. Nyhan
*Kelly E. Ormond Cornelia M. van Duijn
Kevin Sweet
Susan E. Hahn
10
Prenatal, Perinatal and Statistical Genetics and Thank you to the
Reproductive Genetics Genetic Epidemiology following members for
*Clair A. Francomano *Suzanne M. Leal serving as additional
Lee P. Shulman *Michael A. Province reviewers:
Nancy C. Rose Peter N. Robinson *Andy McCallion, 2014
Cornelia M. van Duijn Program Chair
Psychiatric Genetics, Ingrid Borecki Joseph McInerney, ASHG’s
Neurogenetics and John S. Witte Executive Vice President
Neurodegeneration Michael Dougherty,
*Dimitri Avramopoulos Therapy for Genetic ASHG’s Director of
*Michael E. Zwick Disorders Education
Jennifer Gladys Mullé *Barbara R. Pober
Tao Wang Joseph G. Hacia
David J. Cutler Gerald Raymond
Joseph F. Cubells
11
ANNUAL MEETING SUPPORT
The American Society of Human Genetics gratefully acknowledges the

following Annual Meeting supporters.
For the Ice Cream Social during Poster Sessions on Monday
For the Diagnostic Challenges session on Sunday
For the Trainee-Mentor Luncheon on Sunday
For the Trainee Peer Networking Breakfast on Sunday
For the Abstract Search/Itinerary Planner
For the #ASHG14 Tweetup on Saturday

Invited Proposals and Workshops Accepted Until
December 5, 2014
Seeking invited sessions proposals in:

] Emerging Genomic and Bioinformatic Methods and Tools
] Functional or Mechanistic Studies of Genetic Disease
] Comparative Genomics (Population or Species)
] Advances in Mendelian or Complex Trait Analysis
] WES or WGS in Clinical or Research Settings
] Evolutionary Genetics and Genomics
] Engagement of Stakeholders in Clinical Genetics/Genomics
] Social Issues, Education, Policy
] and more! June 11, 2015
Abstract Submission
Deadline
TRAINEES
At least one slot has been set aside for an invited session that is
proposed, moderated and presented by trainees! When submitting
a proposal, please mark the appropriate checkbox to indicate your
status as a trainee.
15
SCHEDULE OF SCIENTIFIC SESSIONS AND

ANCILLARY/EXHIBITOR EDUCATION EVENTS
Ancillary and satellite meetings, exhibitor education events or other special workshops, reunion/
SCHEDULE
university receptions, or meetings of editorial boards, committees, etc., are not official ASHG
functions.
(*) Asterisk denotes meetings/events that the organizer specified are by invitation or pre-
registration only. Otherwise, attendance may be assumed to be open to all registrants on a
first-come, first-served basis.
Listings in bold face indicate the event is an ASHG-sponsored scientific session/event
open only to scientific registrants.
Indicates ASHG Committee Meetings.
Tracks A track addresses the needs of an audience that represents a subset of ASHG
attendees. Sessions are tagged as a specific track when at least half of the talks
within the session fall under the track description.
Indicates Trainee-focused events
The Trainee Track highlights sessions, events, and workshops focused on skills
development, career development, and networking that may be of particular
interest to trainees (e.g., graduate student, postdoc, fellow, resident).
Indicates Education-focused events
The Education Track highlights sessions, events, and workshops falling into
two categories. The first category encompasses research and best practices in
genetics education at all levels. The second category includes content presented
at a level accessible to those without specific expertise in the session/event/
workshop topic.
Indicates Clinically focused events
The Clinical Track highlights sessions, events, and workshops focused on clinical
aspects of human genetics.
Indicates Social Issues-focused events
The Social Issues Track highlights sessions, events, and workshops focused on
social, legal, and ethical issues in basic and clinical human genetics.
Indicates Exhibitor Education or Exhibit Theater Events
The Exhibitor Events Track highlights educational programming by companies
exhibiting at ASHG 2014. Topics range from presentation of new research to case
studies and best practices.
16 SCHEDULE
FRIDAY, October 17
(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise,
attendance may be assumed to be open to all registrants.
7:00 AM - FSH Society Facioscapulohumeral Marriott Marquis Hotel
4:30 PM Muscular Dystrophy [FSHD] 2014 San Diego Ballroom
International Research Consortium & A, North Tower, Lobby
Research Planning Meeting Day 1 Level
8:15 AM - ASHG High School Workshop (for local Convention Center
2:40 PM San Diego students and teachers) Room 25ABC, Upper
Level
8:30 AM - UCSD Institute for Genomic Medicine Sanford Consortium for
5:30 PM Symposium: Genomics of the Single Cell Regenerative Medicine,
(separate registration required) University of California,
San Diego
*9:00 AM - ESHG Executive Board Meeting Convention Center
1:00 PM Room 27B, Upper
Level
*3:00 PM - ASHG Board of Directors Meeting #1 Marriott Marquis Hotel
8:00 PM Coronado, South
Tower, Level 4
*4:00 PM - ABMGG Finance Committee Meeting Marriott Marquis Hotel
5:45 PM Vista, South Tower,
Level 1
*6:00 PM - ABMGG Accreditation Committee Meeting Marriott Marquis Hotel
9:00 PM Oceanside, South
Tower, Level 1
*6:00 PM - ABMGG Credentials Committee Meeting Marriott Marquis Hotel
9:00 PM Leucadia, South Tower,
Level 1
*6:00 PM - ABMGG MOC Committee Meeting Marriott Marquis Hotel
9:00 PM Vista, South Tower,
Level 1
SATURDAY, October 18
(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, at-
tendance may be assumed to be open to all registrants.
*7:00 AM - FSH Society Facioscapulohumeral Marriott Marquis Hotel
4:30 PM Muscular Dystrophy [FSHD] 2014 San Diego Ballroom
International Research Consortium & A, North Tower, Lobby
Research Planning Meeting Day 2 Level
*7:30 AM - ACMG Board Meeting Marriott Marquis Hotel
4:00 PM Point Loma, South
Tower, Level 1
*7:30 AM - ABMGG Board of Directors Meeting Marriott Marquis Hotel
4:30 PM Leucadia, South Tower,
Level 1
8:00 AM - ASHG Undergraduate Faculty Genetics Convention Center
4:00 PM Education Workshop Room 24AB, Upper
Separate advance registration required. Level
SCHEDULE 17
8:00 AM - Exhibitor Registration Open Convention Center

5:00 PM Lobby D, Ground
Level
*8:30 AM - ASHG Board of Directors Meeting #2 Convention Center
3:00 PM Room 26A, Upper
SCHEDULE
Level
8:30 AM - HGVS: Germline and Somatic Mosaicism Embassy Suites
3:45 PM (separate registration required) Downtown
*9:00 AM - Philippine Genome Center Scientific Convention Center
12:00 PM Advisory Committee Meeting Room 21, Upper Level
10:00 AM - ASHG/ASBH Joint Symposium: From Convention Center
3:00 PM Clinical to Community Sequencing: Room 25ABC, Upper
Emerging Ethical, Legal and Social Level
Issues in Genomics
Space is limited. Admission on a first-come
first-serve basis. Please show your meeting
badge to gain admittance.
10:00 AM - Speaker Presentation/Upload Room Convention Center
5:00 PM Open Room 33C, Upper
Speakers are required to upload their Level
presentations here. We recommend
uploading at least 3 hours before your
presentation time.
12:00 PM - Scientific Registration Open Convention Center
Level
*12:00 PM - ASHG Program Committee Meeting #1 Convention Center
Level
12:00 PM - Ataxia-Telangiectasia, DNA Repair and Marriott Marquis Hotel
4:00 PM Genome Instability Open Workshop (for Coronado, South
information contact: meyn@sickkids.ca or Tower, Level 4
Rgatti@mednet.ucla.edu)
12:00 PM - Hereditary Hearing Impairment Consortium Convention Center
4:00 PM Room 31C, Upper
Level
1:00 PM - Getting the Most from the Human Genome: Convention Center
4:00 PM Understanding Updates and Making Use of Room 28A, Upper
Improvements in the Reference Assembly Level
2:30 PM - ASHG Interactive Workshop: Convention Center
4:00 PM Introduction to Accessing and Applying Room 32AB, Upper
ENCODE Data: An Interactive Workshop Level
Separate advance ticket purchase required.
2:30 PM - ASHG Interactive Workshop: Ensembl Convention Center
4:00 PM Highlights (Intermediate/Advanced Room 31AB, Upper
Workshop) Level
2:30 PM - Baylor College of Medicine Exhibitor Convention Center
4:30 PM Education Event Room 28B, Upper
Level
18 SCHEDULE
5:00 PM - 1. ASHG Presidential Address: The Time Convention Center

5:30 PM of Our Lives Hall B1, Ground Level
Cynthia Casson Morton, Brigham and
Women’s Hospital/Harvard Medical
School
5:30 PM - 2. Plenary Abstracts Featured Convention Center
6:50 PM Presentation I Hall B1, Ground Level
*7:00 PM - ACMG Committee Chairs Meeting Marriott Marquis Hotel
Tower, Level 1
*7:00 PM - American Journal of Medical Genetics Marriott Marquis Hotel
9:00 PM Editorial Board Meeting Catalina, South Tower,
Level 4
7:15 PM - Navigating the Thorny Landscape on a Marriott Marquis Hotel
8:45 PM Path from Newborn Screening to Genome Marina G, South Tower,
Sequencing: A Play Brings to Life the Level 3
Drama of DNA. RSVP in advance to Lynn
Bush: lwb25@cumc.columbia.edu
7:30 PM - #ASHG14 Tweetup Southpaw Social Club
9:30 PM Join your fellow #ASHG14 tweeters Beer Garden Patio
for drinks and conversation after the
Presidential Address and Plenary Abstract
Presentations.
7:30 PM - SickKids Genetics & Genome Biology Marriott Marquis Hotel
11:30 PM Program Reception Marina F, South Tower,
Level 3
SUNDAY, October 19
7:00 AM - ASHG Trainee Peer Networking Convention Center
8:00 AM Breakfast Room 25ABC, Upper
Separate advance ticket purchase required. Level
7:00 AM - Scientific Registration Open Convention Center
Level
presentation time.
*7:00 AM - ASHG Communications Committee Convention Center
8:00 AM Meeting Room 27A, Upper
Level
*7:00 AM - ACMG Program Committee Meeting Marriott Marquis Hotel
8:00 AM Point Loma, South
Tower, Level 1
8:00 AM - 3. Distinguished Speakers Symposium: Convention Center
9:30 AM Separating Signal from Noise Hall B1, Ground Level
SCHEDULE 19

Level
10:00 AM - Concurrent Invited Session I (4-11): Convention Center
12:00 PM
SCHEDULE
4. Beyond Canonical CNVs: Interpreting Room 6CF, Upper
Other Forms of Genomic Structural Level
Variation
5. Beyond Mendel: Complexities of Room 20A, Upper
Simple Mendelian Disorders Level
6. Crowdsourced Genetics Room 6AB, Upper
Level
7. Curiouser and Curiouser! Navigating Room 20BC, Upper
Career Transitions and Challenges in Level
Genetics
8. Targeted Drug Therapies for Room 6DE, Upper
Progressive Genetic Disorders Level
9. The X-Factor of Complex Disease: Room 30, Upper Level
From Evolution to Association
Studies of the X Chromosome
10. Using Zebrafish to Model Human Room 29, Upper Level
Genetic Disease Variation
11. Whole Genome/Exome Sequencing: Room 20D, Upper
Patient Expectations, Literacy, and Level
Preferences for Genomic Information
10:00 AM - How Do You Think Genetic Research Convention Center
5:00 PM Will Affect the Future? The Genetic Lobby 20, Upper
Portrait Project — An Interactive Art Level
Initiative
11:00 AM - Exhibits Open Convention Center
7:00 PM Exhibit Hall E, Ground
Level
11:00 AM - Posters Open for Viewing Convention Center
Level
11:00 AM - ASHG Trainee Lounge Convention Center
Level
11:00 AM - ASHG/FASEB Career Resources Open Convention Center
7:00 PM Coaches will be available to give attendees Exhibit Hall E, Ground
free career guidance, provide interview Level
tips, and critique resumes or CVs. Stop by
to make your appointment.
12:00 PM - Lunch Break, Open Viewing for Posters Convention Center
1:30 PM and Visiting the Exhibits Exhibit Hall E, Ground
Complimentary light lunch refreshments Level
served at ASHG Central and in the Trainee
Lounge starting at 12:15. Cash and carry
food concessions selling a variety of hot
and cold items will also be available.
20 SCHEDULE
12:00 PM - ASHG Trainee-Mentor Luncheon Convention Center

1:30 PM Separate advance ticket purchase required. Room 25ABC, Upper
Level
12:00 PM - ASHG Trainee Professional Development Convention Center
1:30 PM Program Exhibit Hall E, Ground
12:00 pm: How to Choose Your Ideal Career Level
12:45 pm: Nailing the Job Talk & Interview
Prep
Space is limited. Admittance on a first-
come, first-served basis.
12:00 PM - ASHG Event: Diagnostic Challenges: Convention Center
1:30 PM Review and Discussion of Unique Cases Room 2, Upper Level
ASHG acknowledges Children’s Hospital
of Los Angeles for providing a grant in
support of this session.
12:00 PM - ASHG Interactive Workshop: Epigenomic Convention Center
1:30 PM Annotation of Genetic Variants Using Room 32AB, Upper
The Washington University Epigenome Level
Browser
*12:00 PM - IFHGS Board Meeting Convention Center
1:30 PM Room 7B, Upper Level
*12:00 PM - ACMG PPG Committee Meeting Convention Center
1:30 PM Room 21, Upper Level
*12:00 PM - Human Variome Project International Convention Center
1:30 PM Scientific Advisory Committee Meeting Room 27B, Upper
Level
*12:00 PM - Human Molecular Genetics Editorial Board Convention Center
1:30 PM Meeting Room 26A, Upper
Level
12:00 PM - Clinical Genetics Editorial Board Meeting Convention Center
Level
*12:00 PM - MGM Editorial Board Meeting - Elsevier Convention Center
1:30 PM Room 27A, Upper Level
12:00 PM - Illumina Exhibitor Education Event #1: Convention Center
1:15 PM From Sample to Answer – Comprehensive Room 4, Upper Level
Next-Generation Sequencing Solutions
to turn Genomic Information into Disease
Insight
12:00 PM - Affymetrix Exhibitor Educational Event: Convention Center
1:30 PM Don't Jeopardize your Cancer Research Room 3, Upper Level
by Relying Solely on Somatic Mutation
Analysis: Evidence of Clinical Utility of
Copy Number in Solid Tumor FFPE Tissue
12:00 PM - Ambry Genetics Exhibitor Education Convention Center
1:30 PM Event: Diagnostic Exome Sequencing In Room 11B, Upper Level
Neonatal Patients: A Rapid Option for
Diagnosis and Management in a Fragile
Patient Population
SCHEDULE 21
12:00 PM - Ayasdi Exhibitor Education Event: Convention Center

1:30 PM Application of Topological Data Analysis Room 7A, Upper Level
(TDA) to Precision Medicine
12:00 PM - Bio-Rad Laboratories Exhibitor Education Convention Center
1:30 PM Room 1B, Upper Level
SCHEDULE
Event: Exploring Depths of the Human
Genome With Droplet Digital PCR
12:00 PM - Building your Genomics Business with Convention Center
1:30 PM SBIR/STTR Support from NHGRI and the Room 5B, Upper Level
NIH
12:00 PM - LGC Exhibitor Education Event: Functional Convention Center
1:30 PM Validation of Genetic Variation in Room 28A, Upper Level
Population Genomics
12:00 PM - Macrogen Exhibitor Education Event: Next Convention Center
1:30 PM Generation Sequencing: A Key to New Room 1A, Upper Level
Discoveries
12:00 PM - Roche Diagnostics Exhibitor Education Convention Center
1:30 PM Event: A Glimpse into the Future of Next- Room 31C, Upper Level
Generation Sequencing
12:00 PM - Personalis Exhibitor Education Event: Convention Center
1:30 PM ACE Exome for Research and Clinical Room 9, Upper Level
Diagnostics: The Most Comprehensive
and Advanced Exome Coverage Available
12:00 PM - VAAST Workshop: Identifying Disease Marriott Marquis Hotel
1:30 PM Causing Genes in Genomes Mission Hill, South
Tower, Level 3
1:30 PM - Concurrent Platform Session A (12-21): Convention Center
3:30 PM
12. Patterns and Determinants of Hall B1, Ground Level
Genetic Variation: Recombination,
Mutation, and Selection
13. Genomic Studies of Autism Room 6AB, Upper
Level
14. Statistical Methods for Pedigree- Room 6CF, Upper
Based Studies Level
15. Prostate Cancer: Expression Room 6DE, Upper
Informing Risk Level
16. Variant Calling: What Makes the Room 20A, Upper
Difference? Level
17. New Genes, Incidental Findings and Room 20BC, Upper
Unexpected Observations Revealed Level
by Exome Sequencing
18. Type 2 Diabetes Genetics Room 20D, Upper
Level
19. Genomic Methods in Clinical Room 28, Upper Level
Practice
20. Genetics and Mechanisms in Room 29, Upper Level
Neurological Disorders
22 SCHEDULE
21. Developmental Genetics: Room 30, Upper Level

Immunodeficiencies and
Autoimmune Disorders
4:00 PM - Poster Session I (Sunday Poster Convention Center
6:00 PM Authors Present) Exhibit Hall E, Ground
Level
6:00 PM - ASHG Welcome Reception Convention Center
Level
6:30 PM - 2014 Gruber Genetics Prize Ceremony Convention Center
7:30 PM and Lecture Room 20A, Upper
Level
6:00 PM - American Board of Bioanalysis (ABB) Convention Center
7:30 PM Board Certification in Molecular Room 11B, Upper Level
Diagnostics Reception
*6:00 PM - ACMG Lab QA Biochemical Genetics Marriott Marquis Hotel
9:00 PM Subcommittee Meeting Point Loma, South
Tower, Level 1
*6:00 PM - ACMG Lab QA Cytogenetics Marriott Marquis Hotel
9:00 PM Subcommittee Meeting Oceanside, South
Tower, Level 1
*6:00 PM - ACMG Lab QA Molecular Genetics Marriott Marquis Hotel
9:00 PM Committee Meeting Vista, South Tower,
Level 1
*6:30 PM - Beckman Coulter Genomics Customer Marriott Marquis Hotel
7:30 PM Reception Newport Beach, South
Tower, Level 4
*6:30 PM - Human Mutation Editorial Board Meeting Marriott Marquis Hotel
8:00 PM Catalina, South Tower,
Level 4
7:15 PM - Association of Chinese Geneticists in Marriott Marquis Hotel
9:00 PM America (ACGA) Annual Meeting Marina F, South Tower,
Level 3
7:30 PM - University of Pittsburgh Reunion Café Sevilla
9:30 PM 353 Fifth Avenue
7:30 PM - Duke University Human Genetics Alumni Marriott Marquis Hotel
9:30 PM Reception La Costa, South Tower,
Level 4
7:45 PM - 1000 Genomes Data Tutorial Convention Center
9:30 PM Room 24ABC, Upper
Level
MONDAY, October 20
6:30 AM - Genzyme CME Program: Small Molecule Convention Center
8:00 AM Therapy for Gaucher Disease Room 25ABC, Upper
Level
SCHEDULE 23
7:00 AM - Speaker Presentation/Upload Room Open Convention Center

5:00 PM Speakers are required to upload their Room 33C, Upper
presentations here. We recommend Level
presentation time.
SCHEDULE
*7:00 AM - ACMG Education Committee Meeting Marriott Marquis Hotel
8:00 AM Oceanside, South
Tower, Level 1
5:00 PM Lobby D, Ground Level
4:00 PM Lobby D, Ground Level
8:00 AM - 22. Plenary Abstracts Featured Convention Center
8:25 AM Presentation II Hall B1, Ground Level
8:30 AM - 23. ASHG Award for Excellence Convention Center
8:45 AM in Human Genetics Education Hall B1, Ground Level
Presentation
8:45 AM - 24. ASHG Victor A. McKusick Leadership Convention Center
9:00 AM Award Presentation Hall B1, Ground Level
9:15 AM - 25. ASHG Curt Stern Award Presentation Convention Center
9:30 AM Hall B1, Ground Level
9:30 AM - 26. ASHG William Allan Award Convention Center
10:00 AM Presentation Hall B1, Ground Level
Level
Level
Level
Initiative
10:30 AM - Concurrent Platform Session B (27-36): Convention Center
12:30 PM
27. Cloudy with a Chance of Big Data Hall B1, Ground Level
28. Architecture and Impact of Human Room 6AB, Upper
Knockout Alleles Level
29. Population Structure, Admixture, and Room 6CF, Upper
Human History Level
30. Neurogenetics: From Gene to Room 6DE, Upper
Mechanism (I) Level
24 SCHEDULE
31. Cardiovascular Genetics I: Single Room 20A, Upper

Gene Stories Level
32. Molecular Insights into Mendelian Room 20BC, Upper
Disorders Level
33. Genomic Alterations of Tumors Room 20D, Upper
Level
34. Metabolic Disorders: New Room 28, Upper Level
Diagnostics and Pathogenic Insights
35. Looking between the Streetlamps: Room 29, Upper Level
Variant Phasing and Imputation
36. Chromatin, Gene Regulation and Room 30, Upper Level
Expression
2:00 PM and for Visiting the Exhibits Exhibit Hall E, Ground
12:30 PM - ASHG Trainee Professional Development Convention Center
2:00 PM Program Exhibit Hall E, Ground
12:30 pm: Nailing the Job Talk & Interview Level
Prep
1:15 pm: Negotiating Strategies for Scientists
Space is limited. Admission on a first-
12:30 PM - ASHG Interactive Workshop: Advanced Convention Center
2:00 PM Features of the UCSC Genome Browser Room 32AB, Upper
12:30 PM - Behind the Scenes: Mock NIH Study Convention Center

2:00 PM Section Workshop Room 25ABC, Upper
12:30 PM - ASHG Interactive Workshop: iSeqTools Convention Center

2:00 PM to De-mistify the Cloud and Genomics Room 24ABC, Upper
Analysis for Researchers Seeking Level
Ways to Analyze High-Throughput DNA
Sequencing Data
*12:30 PM - AJHG Editorial Board Meeting Convention Center
Level
*12:30 PM - ASHG Information and Education Convention Center
2:00 PM Committee Meeting Room 27A, Upper
Level
*12:30 PM - ASHG/NHGRI Public Policy Fellows Convention Center
2:00 PM Luncheon Room 23, Upper Level
*12:30 PM - ACMG Economics of Genetic Services Marriott Marquis Hotel
2:00 PM Committee Meeting Oceanside, South
Tower, Level 1
SCHEDULE 25
*12:30 PM - ACMG Foundation Development Marriott Marquis Hotel,

2:00 PM Committee Meeting Encinitas Room
*12:30 PM - Genetic Epidemiology Editorial Board Convention Center
1:45 PM Meeting Room 26A, Upper
Level
SCHEDULE
*12:30 PM - Human Variome Project Genetics Journal Convention Center
2:00 PM Editors Interest Group Meeting Room 27B, Upper
Level
12:30 PM - NanoString Technology Exhibitor Convention Center
1:30 PM Education Event: A Proven Technology Room 5A, Upper Level
for the Rapid Translation of Genomic
Discovery to a Clinically Validated Assay:
Multiplexed, Amplification-Free, Single-
Molecule Digital Counting of DNAs, RNAs
and Proteins
12:30 PM - Affymetrix Exhibitor Education Event: New Convention Center
2:00 PM Insights in Genotyping Room 3, Upper Level
12:30 PM - Agilent Technologies Exhibitor Education Convention Center
2:00 PM Event: Advances in Next-Gen Sequencing Room 5B, Upper Level
Target Enrichment
12:30 PM - BGI Exhibitor Education Event: Human Convention Center
2:00 PM Disease Research and Drug Development Room 9, Upper Level
in the Era of Next-Gen Sequencing
12:30 PM - Bina Technologies Exhibitor Education Convention Center
2:00 PM Event: Fast, Accurate, Easy to Use Data Room 21, Upper Level
Analysis Solutions
12:30 PM - BioNano Genomics Exhibitor Education Convention Center
2:00 PM Event: Exploring the Dark Matter of the Room 28A, Upper
Genome: Uncovering the Full Impact of Level
Structural Variation in Cancer and the
Human Genome
12:30 PM - Cartagenia, Inc. Exhibitor Education Convention Center
2:00 PM Event: Combining NGS and CNV Assays: Room 7A, Upper Level
Diagnostic Interpretation and Reporting
for Prenatal, Postnatal and Oncology
Applications
12:30 PM - Clinical Genome (ClinGen) Resource Convention Center
2:00 PM Program Luncheon Room 11B, Upper
Level
12:30 PM - DNANexus Exhibitor Education Event: Convention Center
2:00 PM Addressing the Challenges in Genomic Room 2, Upper Level
Analysis and Data Management
12:30 PM - DNASTAR Exhibitor Education Event: Gene Convention Center
2:00 PM Panel Workflows in Lasergene Genomics Room 11A, Upper
Suite Level
12:30 PM - Illumina Exhibitor Education Event #2: Convention Center
2:00 PM Developing IVD Assays using the First Room 4, Upper Level
FDA-Cleared Next-Generation Sequencing
System, the MiSeqDx™
26 SCHEDULE
12:30 PM - Life Technologies-Thermo Fisher Scientific Convention Center

2:00 PM Exhibitor Education Event: Digital & qPCR Room 8, Upper Level
Applications to Accelerate Understanding
in Human Genetics & Disease
12:30 PM - New England Biolabs Exhibitor Event: Convention Center
2:00 PM NEBNext® NGS sample prep: New Room 1A, Upper Level
Developments and Applications
12:30 PM - Nextcode Health Exhibitor Education Convention Center
2:00 PM Event: One Proven Platform Enables Room 1B, Upper Level
the Use of NGS Data Both for Clinical
Diagnostic Interpretation and Massive
Cohort-based Discovery
12:30 PM - Omicia Exhibitor Education Event: Disease Convention Center
2:00 PM Gene Ranking by Phenotype with Phevor Room 31C, Upper
Level
12:45 PM - Poster Walk I Convention Center
1:45 PM Advance Registration Required Exhibit Hall E, Ground
Level
2:00 PM - Poster Session II (Monday Poster Convention Center

Level
4:30 PM - Concurrent Platform Session C (37-46): Convention Center
6:30 PM
37. From Bytes To Phenotypes Hall B1, Ground Level
38. Rare Mutations, Well Done Room 6AB, Upper
Level
39. Cardiovascular Genetics II: Genetic Room 6CF, Upper
Discovery and Characterization Level
40. Genetics of Complex Room 6DE, Upper
Neuropsychiatric Disorders Level
41. Statistical Methods for Population Room 20A, Upper
Based Studies Level
42. Genome Variation and its Impact on Room 20BC, Upper
Autism and Brain Development Level
43. ELSI Issues in Genetics Room 20D, Upper
Level
44. Prenatal, Perinatal, and Room 28, Upper Level
Reproductive Genetics
45. Advances in Defining the Molecular Room 29, Upper Level
Mechanisms of Mendelian Disorders
46. Epigenomics of Normal Populations Room 30, Upper Level
and Disease States
6:30 PM - ASHG Trainee Networking Session Convention Center
8:00 PM Network with professionals in a wide range Lobby 20, Upper
of genetics-related careers. Separate Level
advance ticket purchase required.
SCHEDULE 27
*6:30 PM - ICHG 2016 Scientific Program Committee Marriott Marquis Hotel

10:30 PM Meeting Cardiff/Carlsbad, Level
3
*6:30 PM - ACMG Social, Ethical and Legal Issues Marriott Marquis Hotel
7:30 PM (SELI) Committee Meeting Oceanside, South
SCHEDULE
Tower, Level 1
6:30 PM - Global Alliance for Genomics and Health Convention Center
9:30 PM Information Session Room 8, Upper Level
6:30 PM - CCMG & CIHR Institute of Genetics Mixer Marriott Marquis Hotel
8:00 PM with SickKids Centre for Genetic Medicine Marina E, South Tower,
Level 3
6:30 PM - Cleveland Clinic Genomic Medicine Marriott Marquis Hotel
8:00 PM Institute Reception Catalina, South Tower,
Level 4
6:30 PM - Baylor College of Medicine Department of Marriott Marquis Hotel
8:30 PM Molecular and Human Genetics Reception Marina D, South Tower,
Level 3
6:30 PM - The Ohio State University Comprehensive Marriott Marquis Hotel
8:30 PM Cancer Center (OSUCCC) James Scarlet Santa Rosa, South
and Gray Reception Tower, Level 1
6:30 PM - Regeneron Pharmaceuticals Reception Convention Center
Level
6:45 PM - PALB2 Interest Group Meeting (for Convention Center
8:00 PM information contact: Marc Tischkowitz Room 26B, Upper
mdt33@cam.ac.uk) Level
*7:00 PM - ACMG Lab QA Full Committee Meeting Marriott Marquis Hotel
Tower, Level 1
*7:00 PM - Mount Sinai Alumni Reception Marriott Marquis Hotel
9:00 PM La Costa, South Tower,
Level 4
7:00 PM - Johns Hopkins Institute of Genetic Marriott Marquis Hotel
9:30 PM Medicine Reception Coronado, South
Tower, Level 4
*7:00 PM - RUCDR Infinite Biologics and Marriott Marquis Hotel
10:00 PM BioProcessing Solutions Networking Solana, South Tower,
Reception Level 1
7:30 PM - University of Maryland School of Marriott Marquis Hotel
9:30 PM Medicine/Program in Personalized & Balboa, South Tower,
Genomic Medicine/Institute for Genome Level 3
Sciences Reception
7:30 PM - 2014 Annual University of Chicago Marriott Marquis Hotel
10:30 PM Department of Human Genetics Dessert Mission Hill, South
Reception Tower, Level 3
8:00 PM - University of Michigan Department of Marriott Marquis Hotel
10:00 PM Human Genetics Alumni Gathering Leucadia, South Tower,
Level 1
28 SCHEDULE
8:00 PM - UCSF Reception Marriott Marquis Hotel

11:30 PM DelMar, South Tower,
Level 3
8:00 PM - Department of Genetics and Genome Marriott Marquis Hotel
10:00 PM Sciences at Case Western Reserve Rancho Santa Fe,
University Reception North Tower, Level 1
9:00 PM - CHOP/PENN Reunion Marriott Marquis Hotel
11:00 PM Newport Beach, South
Tower, Level 3
TUESDAY, October 21
*6:00 AM - ACMG Maintenance of Certification Marriott Marquis Hotel
8:00 AM Committee Meeting Leucadia, South Tower,
Level 1
*7:00 AM - ACMG GGRC Planning Committee Convention Center
8:00 AM Room 7B, Upper Level
*7:00 AM - ASHG Training and Development Convention Center
8:00 AM Committee Meeting Room 27A, Upper
Level
presentation time.
Level
Level
8:00 AM - 47. Plenary Abstracts Featured Convention Center
8:25 AM Presentation III Hall B1, Ground Level
8:30 AM - 48. ASHG/ESHG Building Bridges Convention Center
10:00 AM Session: Towards Finding Global Hall B1, Ground Level
Agreement on Topical Discussions
in Genetics: Evolving Uncertainties
in Genomic Medicine
Level
Level
Level
SCHEDULE 29

SCHEDULE
Initiative
10:30 AM - Concurrent Platform Session D (49-58): Convention Center
12:30 PM
49. Detailing the Parts List Using Hall B1, Ground Level
Genomic Studies
50. Statistical Methods for Multigene, Room 6AB, Upper
Gene Interaction and Pathway Level
Analyses
51. Neurogenetics: From Gene to Room 6CF, Upper
Mechanism (II) Level
52. Contribution of Common and Rare Room 6DE, Upper
Variation to Obesity-Related Traits Level
53. The Dynamic Genome: Structural Room 20A, Upper
and Somatic Variation Level
54. Expanding Clinical Phenotypes Room 20BC, Upper
Level
55. Cancer Susceptibility Genes: Room 20D, Upper
Identification and Implementation Level
56. Balanced and Unbalanced Room 28, Upper Level
Chromosomal Rearrangements
57. Diagnostic Yield of New Genomic Room 29, Upper Level
Technologies
58. Genetic/Genomic Education and Room 30, Upper Level
Services Delivery
2:00 PM and Exhibits Exhibit Hall E, Ground
*12:30 PM - ASHG Advocates Luncheon: Genetic Convention Center
2:00 PM Testing in Children and Adolescents Room 7B, Upper
Level
*12:30 PM - ASHG Program Committee Meeting #2 Convention Center
Level
30 SCHEDULE
12:30 PM - ASHG Trainee Professional Convention Center

2:00 PM Development Program Exhibit Hall E, Ground
12:30 pm: Negotiating Strategies for Level
Scientists
1:15 pm: How to Choose Your Ideal
Career
Space is limited. Admission on a first-
12:30 PM - Behind the Scenes: ASHG Publications Convention Center
2:00 PM Workshop Room 25ABC, Upper
Separate advance ticket purchase Level
required.
12:30 PM - ASHG Interactive Workshop: Best Convention Center
2:00 PM Practices for Variant Discovery with the Room 24ABC, Upper
GATK Level
12:30 PM - ASHG Interactive Workshop: Clinical Convention Center
2:00 PM Genomics at NCBI Room 32AB, Upper
*12:30 PM - ACMG Secondary Finding Maintenance Convention Center

2:00 PM Working Group Room 27A, Upper
Level
12:30 PM - Association of Professors of Human and Convention Center
2:00 PM Medical Genetics (APHMG) and SIGs Room 11B, Upper
Business Meeting and Lunch Level
*12:30 PM - MGM Reports Editorial Board Meeting - Convention Center
2:00 PM Elsevier Room 27B, Upper
Level
12:30 PM - QIAGEN Exhibitor Education Event: Your Convention Center
1:45 PM Best Data: Teaming QIAGEN Chemistry & Room 11A, Upper
Informatics to Drive Samples to Insight Level
12:30 PM - Complete Genomics (A BGI Company) Convention Center
2:00 PM Exhibitor Education Event: Clinical Room 9, Upper Level
Applications of Whole Genome Sequencing
*12:30 PM - Human Variome Project Sequence Variant Convention Center
2:00 PM Description Workshop Room 28A, Upper
Level
12:30 PM - Life Technologies-Thermo Fisher Convention Center
2:00 PM Scientific Exhibitor Education Event: NGS Room 8, Upper Level
Breakthroughs in Genetics Research with
Ion Torrent Sequencing: From Research to
the Clinic
12:30 PM - Pacific Biosciences Exhibitor Education Convention Center
2:00 PM Event: Long Read Sequencing of Structural Room 2, Upper Level
Variants and Transcript Isoforms
12:45 PM - Poster Walk II Convention Center
1:45 PM Advance Registration Required Exhibit Hall E, Ground
Level
SCHEDULE 31
1:00 PM - RainDance Technology Exhibitor Convention Center

2:00 PM Education Event: Detecting Circulating Room 5B, Upper
Nucleic Acids by Fluid Biopsy™ and Level
Profiling Somatic Tumors with Next-Gen
DNA
SCHEDULE
2:00 PM - Poster Session III (Tuesday Poster Convention Center
Level
4:30 PM - Concurrent Platform Session E (59-68): Convention Center
6:30 PM
59. We Have the Technology: Next- Hall B1, Ground Level
Generation Genomic Methods
60. Hereditary Breast-Ovarian Cancer Room 6AB, Upper
Level
61. Genomic Studies of Schizophrenia Room 6CF, Upper
and Bipolar Disorder Level
62. From Association to Function in Room 6DE, Upper
Complex Traits Level
63. Therapy for Genetic Disorders Room 20A, Upper
Level
64. Exome Sequencing as Standard of Room 20BC, Upper
Care in Clinical Genetics Level
65. Beyond the Sequence: Genomic Room 20D, Upper
Regulation and Disease Level
66. A Clear Vision for Genetic Eye Room 28, Upper Level
Diseases
67. Autoimmune Genes: Discovery & Room 29, Upper Level
Function
68. Pharmacogenetics: From Room 30, Upper Level
Association to Action
*6:30 PM - ASHG Awards Committee Meeting Convention Center
8:00 PM Room 27A, Upper
Level
WEDNESDAY, October 22
10:00 AM Open Room 33C, Upper
presentation time.
10:00 AM Lobby D, Ground
Level
9:00 AM - Concurrent Invited Session II (69-76): Convention Center
11:00 AM
69. Circulating Cell-Free Nucleic Acids
as Clinical Biomarkers
32 SCHEDULE
70. Genomic Medicine Case

Conference: Illustrative Clinical
Examples
71. Genomic Variation: Interpreting the
Uninterpreted
72. Genetics of Sleep and Circadian
Disorders
73. Heritability and Risk Prediction for
Complex Traits: Regulatory Variants
and Polygenic Models
74. Stakeholder Engagement in
Genomics Policy Development:
What Is It? Why Do It? How?
75. Variation, Mutation, and Selection
through the Lens of Regulatory
Genomics
76. Viruses, Genomic Instability, and the
Pathogenesis of Human Cancers
11:15 AM - 77. ASHG Membership/Business Convention Center
12:30 PM Meeting and Announcement of the Room 20BC, Upper
C.W. Cotterman Award Winners Level
and the Charles J. Epstein Trainee
Awards for Excellence in Human
Genetics Research Winners
*12:30 PM - ACMG ClinGen Worshop Convention Center
5:00 PM Room 21, Upper Level
EXHIBIT THEATER 33
Expo Ed: Exhibit Theater

Exhibit Hall, Booth #1605
EXHIBIT THEATER
Visit the Exhibit Theater and hear presentations of product findings, case studies, and more
from exhibiting companies in a quieter, smaller setting conveniently located on the Exhibit Hall
floor. Presentations will be held in 45-minute increments.
Sunday
12:15 pm- Quantifying the Public Health Burden of Foodborne Extraintestinal
1:00 pm Pathogenic Escherichia coli. Beckman Coulter Genomics
3:45 pm- New International Guidelines for the Management and Treatment of
4:30 pm Morquio A Syndrome. BioMarin Pharmacuticals
4:45 pm- Solutions to Help Maximize Throughput for High-Capacity Next
5:30 pm Generation Sequencing. Beckman Coulter Genomics
5:45 pm- Best Practices in Manual Pipetting. Artel
6:30 pm
Monday
12:45 pm- Superior Sequencing Coverage and Uniformity in Affordable Gene Panels
1:30 pm That You Can Customize. Integrated DNA Technologies
1:45 pm- Why Accuracy Matters: Improving Discovery and Diagnostics for Whole
2:30 pm Genomes and Exomes. Personalis
2:45 pm- Arrays and NGS: High Resolution Analysis of the Medical Exome. Oxford
3:30 pm Gene Technology
Tuesday
12:45 pm- Revolutionizing Carrier Screening: Leveraging NGS & Powerful Data
1:30 pm Analytics to Build a Single Test for Hundreds of Diseases, Without
Population Exclusivity. Gene by Gene
1:45 pm- An Integrated Molecular Medicine Platform for Interpreting and Reporting
2:30 pm on Patient Genomic Profiles. Thomson Reuters
2:45 pm- The Regeneron Geisinger Genetics Collaboration: Large-Scale
3:30 pm Population-Based Gene Discovery. Regeneron Pharmaceuticals
34 PROFESSIONAL DEVELOPMENT PROGRAM, TRAINEE LOUNGE AND CAREER RESOURCES BOOTH
PROFESSIONAL DEVELOPMENT PROGRAM

Exhibit Hall, Booth 1535
Sunday
12:00 pm: How to Choose Your Ideal Career, Bill Lindstaedt
12:45 pm: Nailing the Job Talk & Interview Prep, Andrew Green
Monday
12:30 pm: Nailing the Job Talk & Interview Prep, Andrew Green
1:15 pm: Negotiating Strategies for Scientists, Debra Behrens
Tuesday
12:30 pm: Negotiating Strategies for Scientists, Debra Behrens
1:15 pm: How to Choose Your Ideal Career, Bill Lindstaedt
******************************************
TRAINEE LOUNGE AND CAREER RESOURCES BOOTH

Exhibit Hall
Sunday: 11:00 am-7:00 pm
Monday: 10:00 am-4:00 pm
Tuesday: 10:00 am-4:00 pm
The Trainee Lounge is trainee-dedicated area specifically designed for our early career
attendees and provides an area to give trainees an additional opportunity to network, discuss
poster and session highlights, and relax away from the excitement of the meeting. Trainee
members of ASHG committees will be available at designated times to answer any questions
and explain the opportunities ASHG has to offer trainees at the meeting and beyond.
The Career Resources Booth 1533 operated by FASEB and ASHG is located next to the Pro-
fessional Development Theater and offers career guidance, interview tips, resume/CV critiques,
one-on-one coaching (by appointment only), and more. Employment Boards will be available in
this area for viewing and posting positions.
THE GRUBER GENETICS
Prize Ceremony and Lecture
Ballroom 20A
San Diego Convention Center F O U N D A T I O N
Sunday, October 19
6:30 pm – 7:30 pm
The Genetics Prize is awarded annually by
The Gruber Foundation. The Genetics Prize RECIPIENTS
is presented to a leading scientist, or up
to three, in recognition of groundbreaking
contributions to any realm of genetics
research. The recipients will each be
presented with a gold laureate pin and will
share the $500,000 unrestricted cash award.
Victor Ambros, PhD

Professor of Molecular Medicine
University of Massachusetts Medical School
Sir David Baulcombe, PhD

Professor of Botany
University of Cambridge
Gary Ruvkun, PhD

Professor of Genetics
Massachusetts General Hospital
All three recipients are pioneers in the study
of small non-coding RNAs, molecules that
are recognized as playing a critical role in
F O U N D A T I O N
regulating gene expression. While working
both independently and collaboratively,
Ambros and Ruvkun identified the existence
of microRNAs in animals and how they
repress genes whose activities are essential
for development. Baulcombe established
For further that small RNAs perform a similar silencing
information see process in plants. These discoveries
www.gruber.yale.edu launched an exciting new field of scientific
research with wide-ranging implications for
human health and disease and for improving
agricultural production.
The Gruber Genetics Prize has been

presented annually since 2001. Laureates
are: Rudolf Jaenisch, H. Robert Horvitz,
David Botstein, Mary-Claire King, Robert
H. Waterston, Elizabeth H. Blackburn,
Maynard V. Olson, Allan C. Spradling, Janet
Davison Rowley, Gerald Fink, Ronald Davis,
Douglas Wallace, Svante Pääbo.
35
UPPER LEVEL
Nursing Mothers/
Family Room
WALKWAY
Room 29 Room 30 Speaker Ready

ion
Scientific Session Scientific Session Room Sails Pavil Ballroom
Ballroom 20D Ballroom
Ballroom 6DE
Room 28 Scientific Sessions 6CF
6AB Scientific
Scientific Scientific
Scientific Sessions
Sessions
ssions Sessions
and from Se Sessions
Ballroom 20B/20C Walkway to
Scientific Sessions Genetics Portrait
Project
Coat and Luggage

Ballroom 20A Check
Scientific Sessions
ASHG Office Press Office

Room 23 Room 22
WALKWAY
Escalators down
to Lower Level:
Escalators down Exhibits/Posters Hall B1
to Lower Level:
Escalators down Exhibits/Posters Hall B1
to Lower Level:
Exhibits/Posters Hall B1
SAN DIEGO MARRIOTT

GROUND LEVEL
HOTEL & MARINA

HILTON SAN DIEGO
BAYFRONT HOTEL
Hall B1:
Scientific Sessions
Presidential Address
Exhibits and Posters Plenary Sessions
ASHG Central/AJHG Booth ASHG Award Presentations
Take stairs to Prayer Room, Career Resources and the Professional Distinguished Speakers Symposium
Mezzanine Level Development Theater ASHG/ESHG Building Bridges Session
Trainee Lounge ASHG Business Meeting
Entrance
Registration
T
RESTAURAN
ON
INFORMATI
CENTER
Business
Center
Escalators up Escalators up
to Sessions Rooms to Sessions Rooms
FIRST
Escalators to AID and Meeting Rooms and Meeting Rooms
Upper Level /Offices
MAP 1:
CONVENTION CENTER
San Diego Convention Center
111 W. Harbor Drive, San Diego, CA 92101
Tel: 619-525-5000
Level 1
CABANAS
4
TEMECULA
BALLROOM
MEETING SPACE
VISTA
TEQUILA
BAR & GRILLE
333 WEST HARBOR DRIVE

SAN DIEGO, CA 92101-7700 • PHONE 619-234-1500
www.marriott.com/sandt
Lobby Level
TO BAYSIDE CABANAS
& (LEVEL 1)
ROY’S PRESIDIO
RESTAURANT
ROOMS
RANCHO SANTA FE
SAN DIEGO BAY ROOMS
PRIVATE DINING ROOMS

THE THE
DINING PORCH THE
ROOM KITCHEN
TABLE POOL DECK
MARINA KITCHEN
THE DEN THE NOOK
THE
BA
R
CELLAR MEDIA
ROOM TORREY PINES
THE PANTRY LOUNGE ROOMS
E
IV
R
YE
DR
L
TEQUILA
FO
AL
LL
BAR & GRILLE

H
T
EXCHANGE
HA
T
OT
I
(LEVEL 1)
OT
RR
RI
A
M
AR
M
GUEST
REGISTRATION
CONFERENCE
ROOM 7
BUSINESS
CENTER/
UPS STORE
South Tower - Level 3 South Tower - Level 4
PALOMAR
ROOM LA JOLLA
4
MIRAMAR CO
ROOM NF LA MESA
E RE
NC
ER
OO
MS
CATALINA
LA COSTA
DANA POINT
GU
RO EST EXE
OM
MALIBU S SU C
ITE
GU
ES
TR
OO
MS
37
MAP 2:
MARRIOTT HOTEL & MARINA
(Headquarters Hotel)
333 W. Harbor Drive, San Diego, CA 92101
Tel: 619-234-1500
American Society of Human Genetics 64th Annual Meeting
October 18-22, 2014
San Diego Convention Center
Airport
Balboa Park/
VD.
GRAPE ST. Zoo

PARK BL
ES
T.
FIR ST.
163
AP
GR
5
ST. ELM ST.
FIR
DATE ST.
CEDAR
COLUMBIA ST.
County Center/
Little Italy
7TH AVE.
8TH AVE.
BEECH
Embarcadero
Little Italy
ASH
2ND AVE.
A ST.
Trolley Line
INDIA ST.
FRONT ST.
UNION ST.
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4
Downtown San Diego Hotels Walking time (in minutes) from SDCC Distance (in miles) from SDCC
1 San Diego Marriott Marquis & Marina 1 0.05
2 Embassy Suires Hotel San Diego Bay- Downtown 9 0.45
3 Hard Rock Hotel San Diego 2 0.09
4 Hilton San Diego Bayfront Hotel 1 0.04
5 Hilton San Diego Gaslamp Quarter 1 0.06
6 Horton Grand Hotel 7 0.33
7 Manchester Grand Hyatt San Diego 6 0.32
8 Omni San Diego Hotel 2 0.12
9 San Diego Marriott Gaslamp Quarter 6 0.30
39
MAP 3: HOTEL LOCATOR MAP
The housing counter telephone number is
619-525-6203. You may also contact onPeak
at 312-329-9513 or 800-219-8916; email
ashghousing@onpeak.co. Below is a list
RIRI¿FLDO$6+*KRWHOV
Marriott Hotel & Marina: 619-234-1500

Manchester Grand Hyatt Hotel:
619-232-1234
Embassy Suites: 619-239-2400
Hard Rock Hotel: 619-702-3000
Hilton Bayfront: 619-564-3333
Hilton Gaslamp: 619-231-4040
Horton Grand Hotel: 619-544-1886
Marriott Gaslamp Quarter:
619-696-0234
Omni Hotel: 619-231-6664
41
GENERAL INFORMATION
ABOUT THE MEETING
All events for the 64th Annual Meeting of the American Society of Human Genetics
will be held at the San Diego Convention Center (Convention Center), unless
otherwise indicated. The Convention Center, also referred to as the SDCC, is
located at 111 W. Harbor Drive, San Diego, CA 92101. Tel: 619-525-5000. All
Annual Meeting details are available on the ASHG 2014 Annual Meeting website at
www.ashg.org/2014meeting.
Abstracts of the plenary, platform, and poster presentations may be viewed online
only at the ASHG meeting website, www.ashg.org/2014meeting. Abstract search/
printing stations will be located in the registration area of the Convention Center.
GENERAL INFORMATION
Abstracts are not available in print. Speakers in the invited sessions do not provide
published abstracts.
Invited Sessions: The program is highlighted by 16 invited scientific sessions that
have been scheduled over two concurrent time periods as follows:
• Concurrent Invited Sessions I: Sunday from 10:00 am-12:00 pm
• Concurrent Invited Sessions II: Wednesday from 9:00 am-11:00 am
Featured Plenary Presentations (abstract-driven): These sessions include a diverse
set of presentations selected from the top-rated abstracts submitted and have been
programmed as listed below. Each author will give a 15-minute presentation, with an
additional five minutes for discussion.
• Featured Presentation I: Saturday from 5:30 pm-7:00 pm (four abstracts)
• Featured Presentation II: Monday from 8:00 am-8:25 am (one abstract)
• Featured Presentation III: Tuesday from 8:00 am-8:25 am (one abstract)
Platform Sessions (abstract-driven): The Program Committee has assembled 50
abstract-driven platform sessions totaling 400 oral presentations. Each presenting
author will give a 10-minute talk followed by five minutes of discussion. There are five
sets of ten concurrent platform sessions, consisting of eight presentations each and
programmed as follows:
• Concurrent Platform Sessions A: Sunday from 1:30 pm-3:30 pm
• Concurrent Platform Sessions B: Monday from 10:30 am-12:30 pm
• Concurrent Platform Sessions C: Monday from 4:30 pm-6:30 pm
• Concurrent Platform Sessions D: Tuesday from 10:30 am-12:30 pm
• Concurrent Platform Sessions E: Tuesday from 4:30 pm-6:30 pm
Poster Sessions (abstract-driven): Poster listings include the title of abstracts and
the first/presenting author’s name, preceded by the abstract/poster board numbers in
bold print. Each number is followed by an S (Sunday), M (Monday), or T (Tuesday) to
indicate the day on which authors must be present at their poster board. Each author
is expected to be present for one of the two hours during that day. The posters are
expected to remain on the boards for all three poster sessions.
42 GENERAL INFORMATION
Mobile App
Download the ASHG 2014 Mobile App to your smartphone (iOS and Android
platforms). The Mobile App gives you the meeting at your fingertips wherever you go.
Once the app has been downloaded, you do not need an internet connection to view
information. Users of Blackberrys or Windows Mobile Devices have full access to the
Program through the web version available at ashg.org/2014meeting.
Social Media Policy
Please refer to the ASHG 2014 Annual Meeting website
under general information for the dos and don’ts of Social
Media. Remember, everything is tweetable and can be
blogged, unless a speaker requests to opt out.
Attendees are encouraged to post their thoughts on exciting
scientific or clinical advances they have heard about during the meeting, and on
challenges that the field and the Society will face in the coming years. Use hashtag
#ASHG14 on Twitter or post on our Facebook page at https://www.facebook.
com/GeneticsSociety. Follow ASHG on Twitter for the latest meeting updates at
http://twitter.com/geneticssociety.
Internet/Wi-Fi/Cyber Café
Complimentary Wi-Fi is available in all public lobbies and meeting space of the
Convention Center. To access the Wi-Fi, select the wireless browser SSID ASHG14
and enter the password ASHG14. If you have technical issues, contact the Smart City
Networks help line: 619-525-5500. Please refrain from downloading large files and/or
videos, which tend to use a lot of bandwidth. Remember to log off when you are not
using the wireless service.
A Cyber Café is located in Lobby D. Attendees are asked to limit their time on the
computers in the Cyber Café to 15 minutes per session.
Photography/Camera/Recording Policy
Attendees are strictly prohibited from using cameras, including mobile phone
and tablet cameras, and all other video/audio recording devices in all meeting
session rooms, on the Exhibit Hall floor, and in all poster/oral presentations.
This means that attendees are not permitted to take pictures or videos of speaker
slides, posters, or exhibit booths. Attendees not adhering to this policy may be
asked to leave the room and will be asked to delete all pictures or videos already
taken; additional action may be taken with repeated or egregious offenders. When
registering, you are required to agree that you will adhere to this policy.
Food Service
ASHG will provide coffee service each morning outside Hall B1 and in the
Sails Pavilion. In addition, ASHG will provide light lunch refreshments inside
the Exhibit Hall Sunday through Tuesday. Starbucks is located in Lobby A and
Lobby D. Café Express, offering hot and cold sandwiches, salads, pizza, and fries
will be open inside the Exhibit Hall each day. In addition, portable coffee and snack
stations will be available in various areas throughout the building. Hours vary and will
be posted at each location.
GENERAL INFORMATION 43
REGISTRATION, BADGE, AND PROGRAM PICKUP

Scientific meeting registration, badge, program, and bag pickup is located in Lobby D
of the Convention Center and is open during the following hours:
Saturday 12:00 pm – 6:00 pm
Sunday 7:00 am – 5:00 pm
Monday 7:30 am – 5:00 pm
Tuesday 7:30 am – 5:00 pm
Wednesday 7:30 am – 10:00 am
Exhibitor registration is also located in Lobby D.
On-site registration fees are shown below in U.S. dollars.
ASHG Member $600
GENERAL INFORMATION
Non-member $850
Trainee ASHG Member $300
Trainee Non-member $525
Trainee One-day $95
Developing Country $400
Guest Registration $125
The registration fee includes entry to all invited scientific sessions, platform sessions,
award presentations, the distinguished speakers symposium, the ASHG/ESHG
building bridges session, the business meeting, poster sessions, exhibits, and the
welcome reception. The fee does not include admission to separate ticketed events
and does not include meals.
Guest registration is available for family members or guests of registered
delegates. Guests may register for a fee of $125, which includes admission to the
Exhibit Hall, including the welcome reception on Sunday night. The guest registration
does not include access to scientific sessions. To register as a guest, you must be
accompanied by a paying scientific registrant.
The back of your badge is your registration receipt. Please retain this for your records.
A $10 fee will be charged to registrants for each replacement badge requested, i.e.,
to replace badges that are left at home or in hotel rooms, lost, or forgotten.
44 GENERAL INFORMATION
MEETING OFFICES AND KEY

Y LOCATIONS
Office hours will be posted on site. All telephone numbers listed below will be
operational from Saturday, October 18 through Wednesday, October 22.
ASHG Office and Meeting Logistics ASHG Central/Membership Services
Room 23, Upper Level Exhibit Hall (Booth 1331), Ground Level
Telephone: 619-525-6205 Telephone: 619-525-6207
Business Center Luggage Storage and Coat Check
Lobby D, Ground Level Sails Pavilion, Upper Level
Telephone: 619-525-5450
Prayer/Meditation Room
Exhibit Registration/Exhibit Show Office D, Mezzanine Level
Management
Press Office and Press Registration
Lobby E, Ground Level
Room 22, Upper Level
Telephone 619-525-6200
Telephone: 619-525-6209
Refer to page 43 for hours.
Registration Management/
Family/Nursing Mothers Room
Registration Help
Room 10, Upper Level
Lobby D, Ground Level
First Aid Telephone: 619-525-6202
San Diego/Restaurant Information/
Dial 5490 from any house phone located
Tours and Activities
in the hallways outside all meeting rooms.
Call 619-525-6215 from your mobile
Telephone: 619-525-5616
device.
Security/Emergency
Housing/Hotels
Dial 5490 from any house phone located
in the hallways outside all meeting rooms.
Housing Counter: 619-525-6203
Speaker-Ready/Presentation Uploads
ASHG 2014 Housing Bureau (onPeak)
Room 33C, Upper Level
Tel: 312-329-9513 or 800-219-8916
Telephone: 619-525-6208
Email: ashghousing@onpeak.co
Refer to page 240 for hours and
Refer to page 39 for a map of hotels in
instructions.
the official ASHG block.
Information
Telephone: 619-525-6201
46 TRAINEE AWARDS
ASHG CHARLES J. EPSTEIN TRAINEE AWARDS FOR

EXCELLENCE IN HUMAN GENETICS RESEARCH
ASHG honors excellence in research conducted by predoctoral and postdoctoral
trainees, including genetic counseling trainees, through merit-based awards that
recognize highly competitive abstracts submitted to the Annual Meeting.
Congratulations to the 51 semifinalists (see page 48). Semifinalists were selected based
on abstract score and awarded complimentary registration plus $750 each. Of those
semifinalists, 18 finalists (selected by the Awards Committee) received an additional
$250. The finalists’ presentations will be reviewed by the ASHG Awards Committee
and volunteer judges during the Annual Meeting. Six winners will be chosen to receive
an additional $1000 each. The winners will be announced on Wednesday, October 22
at the Business Meeting
Members of the Awards Committee are Beth Sullivan, Chair; Fowzan Alkuraya; Valerie
Arboleda; Georgia Dunston; Raju Kucherlapati; Charles Lee; Silvère M. van der Maarel;
and Cynthia Morton (ex officio).
Finalists
Name, Presentation, Date, and Time Session Program Award Room

Number Number Category
Nuttle, X. 02 2 Predoctoral Hall B1
Saturday, 5:50 pm (Plenary) Ground
Human-specific gene evolution and ... Level
Hatton, E. 12 5 Predoctoral Hall B1
Sunday, 1:30 pm (Platform) Ground
Re-engineering meiotic recombination Level
in ...
Blumenthal, I. 13 19 Predoctoral Room 6AB
Sunday, 3:00 pm (Platform) Upper Level
Transcriptional consequences of
16p11.2 ...
van de Bunt, M. 18 59 Postdoctoral Room 20D
Integrated analysis of pancreatic
islet ...
Kulzer, J. R. 18 60 Predoctoral Room 20D
T2D-associated ARAP1 regulates
GTPase ...
Karczewski, K. J. 22 85 Postdoctoral Hall B1
Monday, 8:00 am (Plenary) Ground
The Human Knockout Project: system- Level
atic ...
TRAINEE AWARDS 47
Kretzschmar, W. 35 150 Predoctoral Room 29

Monday, 10:30 am (Platform) Upper Level
A genotype likelihood based phasing
and ...
Maurano, M. T. 36 158 Postdoctoral Room 30
Large-scale profiling of sequence ...
Ongen, H. 33 136 Postdoctoral Room 20D
Cis-regulatory drivers in colorectal ...
Hwang, Y.-C. 36 164 Predoctoral Room 30
Monday, 12:00 noon (Platform) Upper Level
Identification and characterization of ...
Yu, B. 28 101 Postdoctoral Room 6AB
Monday, 12:15 pm (Platform) Upper Level
Loss-of-function variants influence
TRAINEE AWARDS
the ...
Gruhn, J. 44 224 Postdoctoral Room 28
Monday, 5:00 pm (Platform) Upper Level
Bringing homologs together:
Sex- and ...
Campbell, I. M. 53 280 Predoctoral Room 20A
Tuesday, 10:45 am (Platform) Upper Level
Parental somatic mosaicism
contributes an ...
Viñuela, A. 53 281 Postdoctoral Room 20A
Analysis of the genetic variation and
age ...
Gu, S. 56 308 Postdoctoral Room 28
Alu-enriched genomic structure
facilitates ...
Zamani Esteki, M. 59 327 Predoctoral Hall B1
Tuesday, 4:30 pm (Platform) Ground
Whole-genome single-cell haplotyping, Level
a ...
*Glubb, D. M. 60 336 Postdoctoral Room 6AB
Tuesday, 4:45 pm (Platform) Upper Level
Candidate causal variants from three ...
Findlay, G. M. 59 329 Predoctoral Hall B1
Tuesday, 5:00 pm (Platform) Ground
Saturation genome editing by Level
multiplex ...
*Dr. Glubb also is the recipient of a travel award provided by ASHG in honor of Dr. Richard Gibbs (Baylor College of
Medicine), a native of Australia, and an ASHG Board member who was recently awarded the prestigious honor of the
Companion of the Order of Australia.
48 TRAINEE AWARDS
ASHG/CHARLES J. EPSTEIN TRAINEE AWARDS FOR

EXCELLENCE IN HUMAN GENETICS RESEARCH
SEMIFINALISTS
The number next to each name indicates the author’s abstract number.
Predoctoral Postdoctoral
Belbin, Gillian, 175 Blackburn, August, 21
Bryois, Julien, 283 Brand, Harrison, 16
Feng, Shuang, 22 Civelek, Mete, 278
Frank, Christopher, 163 Gambin, Tomasz, 51
Heidary, Maryam, 138 Han, Buhm, 258
Hore, Victoria, 262 Hare, Abby, 208
Hsiao, Meng-Chang, 309 Hause, Ronald, 247
Kichaev, Gleb, 868S Kilpeläinen, Tuomas, 1044T
Kim, David, 359 Loh, Marie, 187
Ko, Arthur, 183 Loh, Po-Ru, 200
Kwong, Alan, 385 Madar, Aviv, 254
Lee, Arthur, 222 Manning, Alisa, 56
Narasimhan, Vagheesh, 99 Paternoster, Lavinia, 391
Nelson, Sarah, 220 Quon, Gerald, 248
Samocha, Kaitlin, 198 Stessman, Holly, 210
Uricchio, Lawrence, 201
Wang, Miaoyan, 25
Wolf, Zena, 77
MARC AWARDS 49
WELCOME TO THE 2014 FASEB MARC

TRAVEL AWARDEES
Each year, the ASHG/FASEB-MARC Program sponsors Travel Awards to help support
the participation of faculty/mentors, postdoctoral fellows, and students from minority
institutions and historically black colleges and universities in the United States.
Underrepresented minority faculty, students, and postdoctoral fellows from majority
institutions are also eligible to apply for these travel awards. The MARC travel awards
provide up to $1,850 in funding for travel-related expenses. The travel awards are
supported by a federal training grant from the NIGMS/NIH (T36-GM08059-32).
Poster/Oral presenter
MARC TRAVEL AWARDEES

Kinsley Belle, University of Miami
Calvin Carter, University of Iowa
Monique Courtenay, University of Miami
Kacie Deters, Indiana University School of Medicine
Michael Gonzalez, University of Miami
Wenndy Hernandez, University of Chicago
Crystal Humphries, University of Miami
Latifa Jackson, Drexel University
Janina Jeff, Mount Sinai School of Medicine
Tennille Leak-Johnson, University of Michigan
Sahar Mozaffari, University of Chicago
Nicole Restrepo, Vanderbilt University
Melissa Spear, University of California, San Francisco
Krystal Tsosie, Vanderbilt University
Nora Urraca, University of Tennessee, Health Science Center
Faculty/Mentor & Student/Mentee

Dr. Nadeem Fazal, Chicago State University
Devin Ross, Chicago State University
INVITED AND PLATFORM SESSIONS 51
Saturday, October 18 Saturday, October 18
5:00 PM–5:30 PM 5:30 PM–6:50 PM
SESSION 1. ASHG Presidential Address: The Time of 2. Plenary Abstracts Featured Presentation I
Our Lives Hall B1, Ground Level, Convention Center
Hall B1, Ground Level, Convention Center Moderator: Andrew S. McCallion, Johns Hopkins Univ,
Presenter: Baltimore
Cynthia Casson Morton
Brigham and Women’s Hospital/Harvard Medical These sessions include a diverse set of presentations
School selected from the top-rated abstracts. Each author will
give a 15-minute presentation, with an additional five
minutes for discussion.
1/5:30 The UK10K project: Rare variants in health

and disease. N. Soranzo, UK10K Consortium.
2/5:50 Human-specific gene evolution and

structural diversity of the chromosome 16p11.2
autism CNV. X. Nuttle, G. Giannuzzi, M. H. Duyzend,
P. H. Sudmant, O. Penn, G. Chiatante, M. Malig, J.
Huddleston, L. Denman, L. Harshman, C. Baker,
A. Raja, K. Penewit, F. Antonacci, R. Bernier, A.
While every instant ever known to me as a human Reymond, E. E. Eichler.
geneticist has been exciting, we now live in a moment
in history when our science is poised as never 3/6:10 Discovery and functional characterization of
before to improve personal and public health. The recurrent gene fusions from 7,470 primary tumor
rapidity of technological advances in sequencing has transcriptomes across 28 human cancers. C.
been nothing short of amazing, and the biomedical Bandlamudi, P. Lin, J. Tian, R. Grossman, K. White.
applications of genomics surround us and are steadily
increasing. Presently, we face formidable challenges in 4/6:30 Phase III trial of afamelanotide 16 mg
variant interpretation and in the optimal way to deliver subcutaneous bioresorbable implants for the
information from genetic tests. We find ourselves treatment of erythropoietic protoporphyria. R. J.
engaged in frequent discourse about how to validate Desnick, K. E. Anderson, D. M. Bissell, J. R. Bloomer,
the function of variants and what results should be H. L. Bonkovsky, M. Lebwohl, H. Lim, C. Parker, J.
communicated to individuals. Yet, we have a history Phillips, H. Naik, M. Balwani.
of delivering genetic information that is of uncertain
clinical significance and that is incidental in nature. I
believe this experience has prepared us for our next
steps in this journey, and that we will go forward in
earnest on a daily basis to provide state-of-the-art
knowledge to all those who seek our assistance. It is
our privilege. But it also is our responsibility to improve
that knowledge at the greatest possible speed. How
will we go about this task? This will be a legacy of
our times, and is the time of our lives as human
geneticists.
INVITED AND PLATFORM SESSIONS
Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You
agreed to this policy when registering for the meeting. Thank you for your cooperation.
52 INVITED AND PLATFORM SESSIONS
Sunday, October 19 Sunday, October 19

8:00 AM–9:30 AM 10:00 AM–12:00 PM
Concurrent Invited Session I
SESSION 3. Distinguished Speakers Symposium:
Separating Signal from Noise 4. Beyond Canonical CNVs: Interpreting Other Forms of
Hall B1, Ground Level, Convention Center Genomic Structural Variation
Moderators: Cynthia Casson Morton, Brigham Room 6CF, Upper Level, Convention Center
and Women’s Hosp/Harvard Med Sch; Andrew S. Moderators: Ryan E. Mills, Univ Michigan, Ann
McCallion, Johns Hopkins Univ, Baltimore Arbor; Jan Korbel, European Molec Biol Lab (EMBL),
Heidelberg, Germany
This symposium will address the challenges inherent
in the pursuit of genome sequencing/genomic data as Although the past decade has greatly expanded our
a universal diagnostic/prognostic/therapeutic guide in knowledge of copy number variations (CNVs) and
human disease research and clinical application. This their role in human health and disease, technological
discussion, which will include experts from outside the limitations have hampered the discovery and
ASHG community, will highlight the challenges and characterization of several remaining forms of
opportunities presented by big data in the genomics structural variation, including multi-allelic CNVs,
era. sequence insertions, as well as balanced inversions.
The emergence of longer sequencing reads coupled
8:00 AM Genomic Analytics with IBM Watson. A. with advances in computational approaches for
Royyuru. IBM Watson Research Center. structural variant inference has now allowed for the
accurate detection of balanced rearrangements as
8:30 AM Lessons from a Mixed Marriage: Big well as insertions of repetitive, retroduplicated, and
Sequencing Meets Big Data. D. Glazer. Google. non-template genomic material, and can be used as
a starting point to dissect the structure of genomic
9:00 AM Medicine and Public Health. M. Khoury. loci that have undergone repeated duplications. In this
CDC. session, we will describe the progress that has been
made in examining these important forms of structural
variation with the latest technologies and assessing
their impact on population diversity and evolution.
We will also discuss the analysis and interpretation of
multi-allelic genomic regions. Topics will include an
exploration into functional effects at the transcriptome
level as well as genetic and epigenetic preferences for
variant formation mechanisms. A retrospective look at
what was missed in previous large-scale studies will
also be discussed.
10:00 A M Analysis of SVs in human populations. M.

Gerstein. Yale Univ, New Haven.
10:30 A M Complex and multi-allelic forms of copy

number variation. S. McCarroll. Harvard Med Sch,
Boston.
11:00 A M Genomic landscape of polymorphic

nuclear mitochondrial insertions in humans and
other primates. R. E. Mills. Univ Michigan, Ann Arbor.
11:30 A M Discovery and impact of balanced

inversion polymorphisms. J. Korbel. European Molec
Biol Lab (EMBL), Heidelberg, Germany.
10:00 AM–12:00 PM 10:00 AM–12:00 PM
Concurrent Invited Session I Concurrent Invited Session I
5. Beyond Mendel: Complexities of Simple Mendelian 6. Crowdsourced Genetics

Disorders Room 6AB, Upper Level, Convention Center
Room 20A, Upper Level, Convention Center Moderators: Itisk Pe’er, Columbia Univ, New York;
Moderators: Jeenah Park, Johns Hopkins Sch Med, Yaniv Erlich, Whitehead Inst Biomed Res, Cambridge,
Baltimore; Shira G. Ziegler, Johns Hopkins Sch Med, MA
Baltimore
Crowd science aims to leverage the power of the
Single-gene disorders are called Mendelian disorders masses to tackle scientific tasks that are challenging
because they display patterns of inheritance largely to address with traditional methodologies. The history
consistent with Mendel’s laws. Single-gene disorders of crowd science goes back to Galton, who was the
with classic Mendelian inheritance can be autosomal first to report that estimations by a large number
or sex-linked, and dominant or recessive. The more of amateurs can collectively yield similar values to
we learn about the molecular etiology of classic precise measurements by conventional means. In the
Mendelian disorders, the more we realize that our last few years, we have witnessed renewed interest
view of disease transmission frequently represents an in crowd science approaches. The advent of social
oversimplification of reality. For instance, patients with media has created vast opportunities to partner with
the same disorder, which is inherited in a monogenic large crowds and engage individuals to participate in
fashion following the Mendelian model, often exhibit various parts of the scientific process. This session
a wide range of phenotypic presentation/severity. will present crowd science models that have been
Identification of the specific disease genes has played successfully applied to fundamental challenges in
a significant role in improving our understanding of human genetics. First, we will show how crowd data
gene functions and biological pathways associated mining by citizen genealogists enabled the building
with the corresponding diseases. Nonetheless, we of an ultra-large family tree of millions of people,
should look for ways in which we can close the which provided sufficient statistical power to dissect
gap in our understanding of the factors that modify the genetic architecture of complex traits. Second,
disease severity. What makes these so-called we will show how crowd computation leverages the
“simple” Mendelian disorders complex? To answer brainpower of hundreds of thousands of gamers to
this question, we will explore four classic Mendelian fold proteins, a challenging problem for traditional
disorders – Cystic Fibrosis, Retinitis Pigmentosa, bioinformatics algorithms. Third, we will show crowd
Spinocerebellar Ataxia, and Muscular Dystrophy – experiments that integrate genetic signals and clinical
many of which are characterized by vast phenotypic data to gain insight into drug repositioning for type 2
heterogeneity. Allelic heterogeneity and non- diabetes and inflammatory bowel disease. Finally, we
penetrance can obscure the patterns of inheritance will present the successful crowdfunding for research
and make it difficult to predict the consequence of on a very rare genetic disorder, fatal familial insomnia,
each mutation. Moreover, genetic modifiers modulate using Experiment.com. Together, this session will
so-called Mendelian phenotypes more than we have highlight technical frameworks and methodologies
appreciated. Through a deeper understanding of the for crowd science in human genetics and common
allelic contribution and interactions with other factors, themes and lessons learned from reaching out to the
we can broaden our view and integrate new insights crowd.
uncovered by recent research on disease etiology,
progression, and differential therapeutic strategies. 10:00 A M Crowd mining: Dissecting the genetic
architecture of complex traits with millions of
10:00 A M Elucidating the contribution of CFTR people. Y. Erlich. Whitehead Inst Biomed Res,
allelic variation and modifier genes to phenotypic Cambridge, MA.
variation in cystic fibrosis. J. Park. Johns Hopkins
Sch Med, Baltimore. 10:30 A M Crowd computing: Scientific

discoveries by protein folding game. F. Khatib. Univ
10:30 A M Opening Pandora’s box: The molecular Massachusetts, Dartmouth.
basis of non-penetrance in PRPF31-associated
retinitis pigmentosa. A. M. Rose. UCL Inst 11:00 A M Crowd experiments: Translating a trillion
Ophthalmol, London, United Kingdom. points of data into new disease insights. A. Butte.
Stanford Univ.
11:00 A M RNA-sequencing reveals a complex role
of Ataxin-1 in SCA1. M. A. Ingram. Univ Minnesota, 11:30 A M Crowd funding: A personal quest to cure
Minneapolis. prion disease. S. Vallabh, E. Minikel. PrionAlliance,
Boston.
11:30 A M The muscular dystrophies: Revealing
the genetic and phenotypic variability. N. M. Vieira.
Boston Children’s Hosp, Harvard Med Sch.

10:00 AM–12:00 PM 10:00 AM–12:00 PM
7. Curiouser and Curiouser! Navigating Career 8. Targeted Drug Therapies for Progressive Genetic
Transitions and Challenges in Genetics Disorders
Room 20BC, Upper Level, Convention Center Room 6DE, Upper Level, Convention Center
Moderators: Amy L. Stark, Univ Chicago; Krista A. Moderators: Joseph G. Hacia, Univ Southern
Geister, Seattle Children’s California, Los Angeles; Nancy E. Braverman, McGill
Univ, Montreal
The training of a young geneticist prepares him or
her to make decisions regarding the planning and Expanded newborn screening and genome
execution of genetic research. However, there are sequencing provide powerful means to identify
some components of a successful career that are individuals with progressive genetic disorders
not incorporated in formalized training programs. at an early or presymptomatic stage of disease.
The majority of this type of learning is achieved This presents an unprecedented opportunity for
through mentoring and life experience. For example, therapeutic interventions that delay disease onset
the act of self-promotion may seem straightforward, and/or halt progression before irreversible damage
but there are different and more effective ways to occurs. Here, we will review recent progress towards
promote oneself at various stages of one’s career. developing drug therapies targeted to the molecular
What are the secrets to success at various stages? mechanisms underlying diverse progressive genetic
What are these unforeseen challenges facing young disorders including cystic fibrosis, Duchenne muscular
scientists, and how can they be met? How does one dystrophy, lysosomal storage disorders, and tuberous
bring together clinical and basic science interests to sclerosis. We will discuss large-scale NIH drug
form a productive and stimulating career? What are screening initiatives and highlight an FDA-approved
the challenges that face women and how can they be mutation-specific drug therapy for cystic fibrosis as
overcome? The goal of this session is to answer these a model in which disease identification at birth can
questions and many more with presentations from precede clinical symptoms. Furthermore, we will
individuals with experience in tackling the numerous describe results from clinical trials that evaluate the
challenges trainees experience as they progress in efficacy of rationally designed drug therapies that
their careers. target dysfunctional cell regulation at the level of
signaling and growth factor pathways.
10:00 AM When, where, why, what, and how:
Finding/recruiting for the right postdoctoral 10:00 AM Drug screening for genetic disorders:
position. B. E. Stranger. Univ Chicago. Recent progress and future developments. J.
Inglese. NCATS/NIH, Rockville.
10:30 AM Clinical connection: Careers in genetic
diagnostics. K. Deak. Duke Univ, Durham. 10:30 AM Genotype-specific targeted small
molecule therapies for cystic fibrosis. B. Ramsey.
11:00 AM Launching your academic career: Take Univ Washington Sch Med, Seattle.
off the training wheels and enjoy the ride. S.
Camper. Univ Michigan, Ann Arbor. 11:00 AM Exon skipping and nonsense suppressor
therapies to treat Duchenne muscular dystrophy. S.
11:30 AM Hitting your Stride with Work and Life: F. Nelson. UCLA.
Balancing a Career in Genetics with Family Life. M.
Urbanek. Northwestern Univ, Chicago. 11:30 AM Targeting molecular signaling pathways
to treat Mendelian disorders with progressive
neurologic involvement. M. J. Gambello. Emory Univ
Sch Med, Atlanta.
10:00 AM–12:00 PM 10:00 AM–12:00 PM
9. The X-Factor of Complex Disease: From Evolution to 10. Using Zebrafish to Model Human Genetic Disease
Association Studies of the X Chromosome Variation
Room 30, Upper Level, Convention Center Room 29, Upper Level, Convention Center
Moderators: Alon Keinan, Cornell Univ, Ithaca; Melissa Moderators: Barry H. Paw, Brigham and Women’s
A. Wilson Sayres, Arizona State Univ, Tempe Hosp, Boston; Nicholas Katsanis, Duke Univ, Durham
Despite sexual dimorphism of most complex human As genomic sequences become more available,
diseases studied in genome-wide association studies, the bottleneck in human genetics is shifting from
the sex chromosomes have been mostly omitted. Not identifying genetic variants to understanding their
only can they explain a portion of “missing heritability” function. Model organisms that are genetically
of currently available genotyping data across tractable are a powerful tool for rapidly screening
thousands of studies, but without appropriate methods variants. As a vertebrate with relatively fast
they will remain unexplored in the era of sequence- development, Danio rerio (zebrafish) is often an ideal
based studies. Many problems need to be resolved organism for assessing the phenotypic impact of
for the X chromosome to be studied thoroughly. In sequence changes. This session will provide insight
this session speakers will describe progress and into the technologies used to manipulate zebrafish, as
novel results in the understanding of X-inactivation, well as several examples of major ongoing projects
interpretation of the unique patterns of population that are using zebrafish as a crucial component of
genetic variation on the X chromosome and, a human genetics clinical research program. The
importantly, how these lead to exciting new methods speakers will describe projects that have implicated
for analyzing the X chromosome in association and numerous genes in kidney disease, developmental
functional studies of complex human diseases and disorders, and cardiac diseases, and directions for
quantitative traits. Novel X-linked complex disease future research and clinical application.
risk loci underlying several diseases will be presented,
as well as how X-inactivation can be studied to better 10:00 AM Coupling exome sequencing and
understand the function of long noncoding RNA. The functional modeling in neonates. N. Katsanis. Duke
session will show how ignoring the sex chromosomes Univ, Durham.
may affect interpretations of population and medical
genetic data and will demonstrate that understanding 10:30 AM From association to mechanism: Using
their role in medical genetics and their unique response zebrafish to evaluate GWAS loci. D. J. Milan.
to evolutionary history, is an important step towards Massachusetts Gen Hosp, Charlestown.
uncovering sexual dimorphism in disease etiology.
11:00 AM Zebrafish genome editing tools using
10:00 aM Population genomics of sex random and targeted engineering for individualized
chromosome evolution. M. A. Wilson Sayres. Arizona medicine applications. S. C. Ekker. Mayo Clin Col
State Univ, Tempe. Med, Rochester.
10:30 AM Contrasting the impact of natural 11:30 AM Using zebrafish genetics to discover
selection on the X chromosome and autosomes the developmental basis of human disease. C. B.
amongst apes. K. R. Veeramah. Stony Brook Univ. Moens. Fred Hutchinson Cancer Res Ctr, Seattle.
11:00 AM Methods for association studies of the

X chromosome and their application to unraveling
its role in autoimmune diseases. A. Keinan. Cornell
Univ, Ithaca.
11:30 AM Dosage regulation of the X chromosome:

Role of Sex Differences in Health and Disease. C.M.
Disteche. Univ of Washington, Seattle.

10:00 AM–12:00 PM 1:30 PM–3:30 PM
Concurrent Invited Session I Concurrent Platform Session A
11. Whole Genome/Exome Sequencing: Patient 12. Patterns and Determinants of Genetic Variation:
Expectations, Literacy, and Preferences for Genomic Recombination, Mutation, and Selection
Information Hall B1, Ground Level, Convention Center
Room 20D, Upper Level, Convention Center Moderators: Emilia Huerta-Sanchez, UC Berkeley;
Moderators: Amy L. McGuire, Baylor Col Med, Joseph Pickrell, New York Genome Center
Houston; Gail Henderson, Univ North Carolina Sch
Med, Chapel Hill 5/1:30 Re-engineering meiotic recombination in the
mouse. E. Hatton, B. Davies, J. Hussin, F. Pratto, D.
A primary challenge in the integration of whole Biggs, N. Altemose, N. Hortin, C. Preece, D. Moralli, A.
genome and whole exome sequencing into clinical Gupta-Hinch, K. Brick, C. Green, D. Camerini-Otero, S.
care is to develop best practices for offering testing Myers, P. Donnelly.
and communicating test results to patients in a way
that is highly responsive to patients’ expectations, 6/1:45 Examining variation in recombination levels
genetic knowledge and literacy, and preferences in the human female: A test of the production line
for genomic information. In 2010 the NIH initiated a hypothesis. R. Rowsey, J. Gruhn, K. Broman, P. Hunt,
Clinical Sequencing Exploratory Research (CSER) T. Hassold.
program intended to develop methods needed for
clinical integration of whole genome and whole 7/2:00 The fine-scale landscape of meiotic
exome sequencing and to conduct ethical, legal, and gene conversion. A. L. Williams, J. Blangero, M.
psychosocial research to help inform the responsible Przeworski.
application of genomic sequencing to clinical practice.
During this session we will report baseline findings 8/2:15 Recombination maps for Latino populations
from four NHGRI-funded CSER studies, summarize based on ancestry inference. S. Shringarpure,
lessons learned, and discuss implications of our data D. Wegmann, C. Gignoux, B. Maples, A. Ferrer-
for offering and conducting clinical sequencing in Admetlla, A. Moreno-Estrada, K. Sandoval, C. Eng, S.
diverse patient populations. Huntsman, A. Ko, T. Tusie-Luna, C. Aguilar-Salinas,
P. Pajukanta, D. Torgerson, E. Burchard, J. Below, B.
10:00 AM The MedSeq Pilot Project: Patient Pasaniuc, S. Gravel, J. Novembre, C. Bustamante.
perspectives from a randomized trial of whole
genome sequencing. A. L. McGuire. Baylor Col Med, 9/2:30 The human X chromosome is the target of
Houston. megabase wide selective sweeps associated with
multi-copy genes expressed in male meiosis and
10:30 AM The CanSeq Project: Opportunities and involved in reproductive isolation. M. H. Schierup, K.
challenges of integrating whole exome sequencing Munch, K. Nam, T. Mailund, J. Y. Dutheil.
into the care of advanced care patients. S. Gray.
Dana Farber Cancer Inst, Brookline, MA. 10/2:45 New insights on human de novo
mutation rate and parental age. W. S. W. Wong, B.
11:00 AM NCGENES: Factors related to Solomon, D. Bodian, D. Thach, R. Iyer, J. Vockley, J.
expectations for WES testing and decisions to Niederhuber.
receive incidental findings among a diverse patient
population. C. Rini. Univ North Carolina at Chapel Hill. 11/3:00 Cholera resistance in Bangladesh:
Combining signals of ancient, pathogen-driven
11:30 AM PEDISEQ: Parent perspectives and the selection with genome-wide association to
inclusion of children in decisions about whole understand immune response. E. K. Karlsson, I.
exome sequencing. B. A. Bernhardt. Perelman Sch Shylakhter, F. Qadri, J. B. Harris, S. B. Calderwood, E.
Med, Univ Pennsylvania, Philadelphia. T. Ryan, R. C. LaRocque, P. C. Sabeti.
12/3:15 Direct detection of genetic dominance from

natural variation in human populations. D. Balick, R.
Do, D. Reich, S. Sunyaev.
Sunday, October 19
1:30 PM–3:30 PM
Concurrent Platform Session A
13. Genomic Studies of Autism 20/3:15 Most genetic risk for autism resides with
Room 6AB, Upper Level, Convention Center common variation. J. D. Buxbaum, B. Devlin, K.
Moderators: James S. Sutcliffe, Vanderbilt Sch Med, Roeder, Population-based Autism Genetics and
Nashville; Alex Bassuk, Univ Iowa, Iowa City Environment Study (PAGES) Consortium.
13/1:30 Exome analyses reveal new autism

genes in synaptic, transcriptional, and chromatin
networks. S. De Rubeis, K. Roeder, B. Devlin, M.
J. Daly, J. D. Buxbaum, The Autism Sequencing
Consortium.
14/1:45 Defining the contribution of different

classes of de novo mutation to autism. I. Iossifov, B.
J. O’Roak, S. J. Sanders, N. Krumm, M. Ronemus, D.
Levy, J. Shendure, E. E. Eichler, M. W. State, M. Wigler.
15/2:00 Brain-expressed exons under purifying

selection are enriched for de novo mutations in
autism spectrum disorder. M. Uddin, K. Tammimies,
G. Pellecchia, B. Alipanahi, P. Hu, Z. Wang, D. Pinto, L.
Lau, T. Nalpathamkalam, C. Marshall, B. Blencowe, B.
Frey, D. Merico, R. Yuen, S. Scherer.
16/2:15 The landscape and clinical impact of

cryptic structural variation in autism and related
neuropsychiatric disorders. H. Brand, V. Pillalamarri,
R. Collins, S. Eggert, M. Stone, I. Blumenthal, C.
O’Doushlaine, E. Braaten, J. Rosenfeld, S. Mccarroll,
J. Smoller, A. Doyle, M. Talkowski.
17/2:30 Diagnostic utility of whole exome

sequencing and chromosomal microarray in a
clinically well-defined autism spectrum disorder
cohort. K. Tammimies, B. A. Fernandez, S. Walker, B.
Thiruvahindrapuram, G. Kaur, A. C. Lionel, W. Roberts,
R. Weksberg, J. L. Howe, M. Uddin, R. K. C. Yuen,
Z. Wang, L. Lau, P. Szatmari, K. Whitten, C. Vardy, V.
Crosbie, B. Tsang, R. Liu, L. D’Abate, S. Luscombe, T.
Doyle, S. Stuckless, D. Merico, D. J. Stavropoulos, C.
R. M. Marshall, S. W. Scherer.
18/2:45 Integrative functional genomics following

suppression of CHD8 identifies transcriptional
signatures that are enriched for autism genes and
macrocephaly. M. Biagioli, A. Sugathan, C. Golzio, I.
Blumenthal, S. Erdin, P. Manavalan, A. Ragavendran,

D. Lucente, J. Miles, S. D. Sheridan, A. Stortchevoi, S.
J. Haggarty, J. F. Gusella, N. Katsanis, M. E. Talkowski.
19/3:00 Transcriptional consequences of 16p11.2

microdeletion/microduplication syndrome in
mouse cortex converges on genes and pathways
associated with autism and known intellectual
disability syndromes. I. Blumenthal, A. Ragavendran,
S. Erdin, C. Golzio, A. Sugathan, J. Guide, V. Wheeler,
A. Reymond, N. Katsanis, J. F. Gusella, M. E.
Talkowski.

1:30 PM–3:30 PM 1:30 PM–3:30 PM
Concurrent Platform Session A Concurrent Platform Session A
14. Statistical Methods for Pedigree-Based Studies 15. Prostate Cancer: Expression Informing Risk
Room 6CF, Upper Level, Convention Center Room 6DE, Upper Level, Convention Center
Moderators: Ingrid Borecki, Washington Univ in St. Moderators: Paul Scheet, Univ Texas, MD Anderson
Louis; Frances Gagnon, Univ Toronto, Canada Cancer Ctr, Houston; Amanda E. Toland, The Ohio
State Univ, Columbus
21/1:30 Utilizing rare variants for phasing and
imputation in pedigrees. A. Blackburn, J. Blangero, 29/1:30 Functional partitioning of prostate cancer
H. Göring. heritability in European Americans and African
Americans from AAPC and BPC3 consortia reveals
22/1:45 The “Jackpot” Effect: When do family tissue specific regulation. B. Pasaniuc, A. Gusev, F.
samples provide more power to detect trait- R. Schumacher, S. Lindstrom, M. Pomerantz, F. Li, H.
associated rare variants? S. Feng, G. Pistis, A. Long, P. Kraft, A. L. Price, M. Freedman, C. A. Haiman,
Mulas, M. Zoledziewska, F. Busonero, S. Sanna, D. BPC3 Consortium, AAPC Consortium.
Liu, F. Cucca, G. R. Abecasis.
30/1:45 Prostate cancer risk locus at 8q24 as
23/2:00 Sequence kernel association test for a regulatory hub by physical interactions with
multivariate quantitative phenotype in family multiple genomic loci across the genome. M. Du, T.
samples. Q. Yan, B. Li, W. Chen, N. Liu. Yuan, K. Schilter, R. Dittmar, A. Mackinnon, X. Huang,
M. Tschannen, E. Worthey, H. Jacob, S. Xia, J. Gao, L.
24/2:15 Genetic network inference in studies of Tillmans, Y. Lu, P. Liu, S. Thibodeau, L. Wang.
multiple phenotypes from related individuals. J.
Marchini, A. Dahl, V. Hore. 31/2:00 Genome-wide association study of 35K
men with 300K prostate specific antigen measures
25/2:30 G-STRATEGY: Optimal selection of identifies numerous novel loci: potential for
individuals to genotype in genetic association personalized screening for prostate cancer. J. S.
studies with related individuals. M. Wang, J. Witte, T. J. Hoffmann, L. Sakoda, E. Jorgenson, D.
Jakobsdottir, A. V. Smith, M. S. McPeek. S. Aaronson, J. Shan, L. A. Habel, J. C. Presti, C.
Schaefer, N. Risch, S. K. Van Den Eeden.
26/2:45 Using a population-based linkage analysis
approach to identify transcript QTL in skeletal 32/2:15 Germline sequencing for genetic markers
muscle tissues in a founder population. W.-C. of aggressive prostate carcinoma susceptibility. D.
Hsueh, S. Kobes, R. L. Hanson. Koboldt, K. Kanchi, D. Larson, R. Fulton, E. Mardis, A.
Kibel.
27/3:00 Testing for disease association with rare
compound heterozygous and recessive mutations 33/2:30 Identification of candidate target genes
in case-parent sequencing studies. A. Allen, Y. for prostate cancer risk-SNPs utilizing a normal
Jiang, J. McCarthy. prostate tissue eQTL dataset. S. N. Thibodeau, A. J.
French, S. K. McDonnell, J. C. Cheville, S. Middha, S.
28/3:15 Statistical approaches for rare-variant M. Riska, S. Baheti, Z. C. Fogarty, L. S. Tillmans, M.
association testing in affected sibships. M. P. C. Larson, N. B. Larson, A. A. Nair, D. R. O’Brien, J. I.
Epstein, E. Ware, M. A. Jhun, L. F. Bielak, W. Zhao, J. Davila, Y. Zhang, L. Wang, J. M. Cunninghman, D. J.
Smith, P. A. Peyser, S. L. R. Kardia, G. A. Satten. Schaid.
34/2:45 Association of prostate cancer risk variants

with gene expression in normal prostate and tumor
tissue. K. L. Penney, J. A. Sinnott, S. Tyekucheva, T.
Gerke, I. Shui, P. Kraft, H. D. Sesso, M. L. Freedman,
M. Loda, L. A. Mucci, M. J. Stampfer.
35/3:00 Discovery and functional characterization

of an oncogenic PTEN mutation: Implications for
personalized cancer genome therapy. H. A. Costa,
M. G. Leitner, M. L. Sos, A. Mavrantoni, A. Rychkova,
M. C. Yee, F. M. De La Vega, J. M. Ford, K. M. Shokat,
D. Oliver, C. R. Halaszovich, C. D. Bustamante.
1:30 PM–3:30 PM (SESSION 15, continued) 1:30 PM–3:30 PM
36/3:15 Convergent Genomics Validates C2orf43 16. Variant Calling: What Makes the Difference?
Role in Prostate Cancer. B. B. Currall, K. E. Wong, N. Room 20A, Upper Level, Convention Center
G. Robertson, A. Lunardi, M. Reschke, P. P. Pandolfi, Moderators: Deanna M. Church, Personalis, Menlo
C. C. Morton. Park, CA; Aaron Quinlan, Univ Virginia, Charlottesville
37/1:30 Alignment to an ancestry specific reference

genome discovers additional variants among 1000
Genomes ASW Cohort. R. A. Neff, J. Vargas, G. H.
Gibbons, A. R. Davis.
38/1:45 Detecting novel sequence insertions in

3000 individuals from short read sequencing data.
B. Kehr, P. Melsted, A. Jónasdóttir, A. Sigurðsson,
A. Gylfason, D. Guðbjartsson, B. V. Halldórsson, K.
Stefánsson.
39/2:00 SNAP: Fast, accurate sequence alignment

enabling biological applications. R. Pandya, W.
Bolosky, M. Zaharia, T. Sittler, K. Curtis, C. Hartl, A.
Fox, S. Schenker, I. Stoica, D. Patterson.
40/2:15 Precise identification of copy number

variants in whole-genome data using median
coverage profiles. G. Glusman, T. Farrah, D. E.
Mauldin, A. B. Stittrich, S. Ament, L. Rowen, J. C.
Roach, M. Brunkow, M. Robinson, A. F. A. Smit,
R. Hubley, D. Bodian, J. Vockley, I. Shmulevich, J.
Niederhuber, L. Hood.
41/2:30 Accurate read mapping using a graph-

based human pan-genome. W. Lee, E. Garrison, D.
Kural, G. Marth.
42/2:45 The impact of GRCh38 on clinical

sequencing. D. M. Church, J. Harris, G. Bartha, M.
Pratt, A. Patwardhan, S. Chervitz, S. Kirk, M. Clark, S.
Garcia, J. West, R. Chen.
43/3:00 Optimized exome sequencing for discovery

research: Improved metrics and methods to
enhance variant discovery across the biomedical
footprint of the genome. M. Pratt, S. Luo, G. Bartha,
J. Harris, N. Leng, C. Haudenschild, R. Chen, J. West.
44/3:15 SpeedSeq: A 24-hour alignment, variant

calling, and genome interpretation pipeline. C.
Chiang, R. M. Layer, G. G. Faust, M. R. Lindberg, A. R.
Quinlan, I. M. Hall.
Sunday, October 19
1:30 PM–3:30 PM
17. New Genes, Incidental Findings and Unexpected 50/2:45 Assessment of the success rate of two
Observations Revealed by Exome Sequencing years of large-scale exome sequencing efforts
Room 20BC, Upper Level, Convention Center to identify genes for Mendelian conditions at the
Moderators: Joris A. Veltman, Radbound Univ Med Ctr, University of Washington Center for Mendelian
Nijmegen, Netherlands; Thomas Meitinger, Technical Genomics. J. X. Chong, J. Shendure, D. A. Nickerson,
Univ Munich, Germany M. J. Bamshad, University of Washington Center for
Mendelian Genomics.
45/1:30 Genomic sequencing approach identifies
novel rare variants in patients with Mendelian 51/3:00 A comparative analysis of allele
neurologic diseases. E. Karaca, D. Pehlivan, T. Harel, frequencies for incidental findings among five
S. Weitzer, H. Shiraishi, T. Gambin, Y. Bayram, W. populations based on the analyses of 11K whole
Wiszniewski, S. N. Jhangiani, G. Yesil, S. Isikay, O. exome sequences. T. Gambin, S. Jhangiani, J. E.
Ozalp Yuregir, S. Bozdogan, H. Aslan, T. Tos, D. Gul, B. Below, J. Staples, A. Morrison, A. Li, I. Campbell, W.
Yilmaz, O. Cogulu, K. Karaer, H. Ulucan, D. Muzny, M. Wiszniewski, D. M. Muzny, M. N. Bainbridge, R. A.
Seven, A. Yuksel, T. Clausen, T. Tuschl, A. Hess, R. A. Gibbs, J. R. Lupski, E. Boerwinkle.
Gibbs, J. Martinez, J. M. Penninger, J. R. Lupski.
52/3:15 Why next-generation sequencing studies
46/1:45 Individualized iterative phenotyping may fail: Challenges and solutions for gene
for genome-wide analysis of loss of function identification in the presence of familial locus
mutations. J. J. Johnston, K. Lewis, D. Ng, L. N. heterogeneity. R. L. P. Santos-Cortez, A. U. Rehman,
Singh, J. Wynter, C. Brewer, B. P. Brooks, I. Brownell, M. C. Drummond, M. Shahzad, K. Lee, R. J. Morell,
F. Candotti, S. G. Gonsalves, P. S. Hart, H. H. Kong, K. M. Ansar, A. Jan, X. Wang, A. Aziz, S. Riazuddin, J. D.
I. Rother, R. Sokolic, B. D. Solomon, W. M. Zein, D. N. Smith, G. T. Wang, Z. M. Ahmed, K. Gul, A. E. Shearer,
Cooper, P. D. Stenson, J. C. Mullikin, L. G. Biesecker. R. J. H. Smith, J. Shendure, M. J. Bamshad, D. A.
Nickerson, J. Hinnant, S. N. Khan, R. A. Fisher, W.
47/2:00 Genomic approach identifies novel proteins Ahmad, K. H. Friderici, S. Riazuddin, T. B. Friedman, E.
necessary for inner ear function and development S. Wilch, S. M. Leal, University of Washington Center
across multiple species. O. Diaz-Horta, M. Grati, C. for Mendelian Genomics.
Abad, A. DeSmidt, G. Bademci, A. Subasioglu-Uzak,
J. Foster II, S. Tokgoz-Yilmaz, D. Duman, F. B. Cengiz,
S. H. Blanton, X. Z. Liu, A. Farooq, Z. Lu, K. Walz, M.
Tekin.
48/2:15 A Drosophila genetic resource to study

human disease genes and its use for gene
discovery in human exome data. M. F. Wangler,
S. Yamamoto, M. Jaiswal, W. L. Charng, T. Gambin,
E. Karaca, G. Mirzaa, W. Wiszniewski, H. Sandoval,
N. Haelterman, V. Bayat, D. Pehlivan, S. Penney, L.
Vissers, S. Jhangiani, S. Tsang, Y. Xie, Y. Parman, E.
Battaloglu, D. Muzny, Z. Liu, R. Clark, C. Curry, E.
Boerwinkle, W. Dobyns, R. Allikmets, R. Gibbs, R.
Chen, J. R. Lupski, H. Bellen.
49/2:30 Genome sequencing identifies major

causes of severe intellectual disability. C. Gilissen,
J. Y. Hehir-Kwa, D. Thung, M. van de Vorst, B. W. M.
van Bon, M. H. Willemsen, M. Kwint, I. M. Janssen, A.
Hoischen, A. Schenck, R. Leach, R. Klein, R. Tearle,
T. Bo, R. Pfundt, H. G. Yntema, B. B. A. de Vries,
T. Kleefstra, H. G. Brunner, L. E. L. M. Vissers, J. A.
Veltman.
Sunday, October 19
1:30 PM–3:30 PM
18. Type 2 Diabetes Genetics 59/3:00 Integrated analysis of pancreatic islet

Room 20D, Upper Level, Convention Center eQTLs and regulatory state maps identifies
Moderators: Maggie Ng, Wake Forest Sch Med, putative causal mechanisms at T2D-associated
Winston-Salem; Craig Hanis, Univ Texas Hlth Sci Ctr, loci. M. van de Bunt, J. E. Manning Fox, K. J. Gaulton,
Houston A. Barrett, X. Q. Dai, M. Ferdaoussi, P. E. MacDonald,
M. I. McCarthy, A. L. Gloyn.
53/1:30 Genome-wide association study imputed to
1000 Genomes reveals 18 novel associations with 60/3:15 T2D-associated ARAP1 regulates GTPase
type 2 diabetes. R. A. Scott, R. Magi, A. P. Morris, activity, insulin processing and secretion in the
L. Marullo, K. Gaulton, M. Boehnke, J. Dupuis, M. pancreatic beta cell. J. R. Kulzer, R. C. McMullan, M.
I. McCarthy, L. J. Scott, I. Prokopenko, DIAGRAM+ P. Fogarty, K. L. Mohlke.
Consortium.
54/1:45 Genome-wide association and exome

sequence data analysis for more than 100 traits
in Mexican Americans. J. E. Below, B. E. Cade, D.
Aguilar, E. Brown, H. M. Highland, S. Redline, G. I.
Bell, N. J. Cox, C. L. Hanis.
55/2:00 Three common recessive variations explain

more than 20% of all cases of type 2 diabetes in
Greenland. A. Albrechtsen, I. Moltke, M. E. Jørgensen,
P. Bjerregaard, E. V. R. Appel, R. Nielsen, O. Pedersen,
N. Grarup, T. Hansen.
56/2:15 A low frequency AKT2 coding variant

enriched in the Finnish population is associated
with fasting insulin levels. A. K. Manning, H. H.
Highland, X. Sim, N. Grarup, T. Tukiainen, J. Gasser,
A. Mahajan, M. A. Rivas, A. E. Locke, J. Tuomilehto,
M. Laakso, S. Ripatti, J. B. Meigs, D. Altshuler, M.
Boehnke, M. I. McCarthy, A. L. Gloyn, C. M. Lindgren,
T2D Genes, GoT2D.
57/2:30 Association of genetic variants with

metabolic traits and multiple disease outcomes
to inform therapeutic target validation: Strengths
and limitations of a GLP1R variant. D. F. Freitag, R.
A. Scott, L. Li, J. L. Aponte, S. M. Willems, J. Wessel,
A. Y. Chu, S. Wang, P. Munroe, M. den Hoed, I. B.
Borecki, C. Liu, G. M. Peloso, J. M. M. Howson, A.
S. Butterworth, J. Danesh, J. Dupuis, J. I. Rotter, J.
B. Meigs, M. O. Goodarzi, S. O’Rahilly, M. G. Ehm,
N. J. Wareham, D. Waterworth, CVD50 Consortium,
CHARGE Consortium, CHD Exome+ Consortium,
CARDIOGRAM Exome.
58/2:45 Dense fine-mapping reveals FOXA2-bound

sites as a genomic marker of type 2 diabetes risk.
K. J. Gaulton, T. M. Teslovich, T. Ferreira, M. Reschen,
A. Mahajan, Y. Lee, M. van de Bunt, N. W. Rayner, A.
Raimondo, C. O’Callaghan, A. L. Gloyn, A. P. Morris,
M. I. McCarthy, DIAGRAM Consortium.

1:30 PM–3:30 PM 1:30 PM–3:30 PM
Concurrent Platform Session A Concurrent Platform Session A
19. Genomic Methods in Clinical Practice 20. Genetics and Mechanisms in Neurological
Room 28, Upper Level, Convention Center Disorders
Moderators: Yaping Yang, Baylor Col Med, Houston; Room 29, Upper Level, Convention Center
Swaroop Aradhya, Invitaue Inc, Palo Alto Moderators: Nara Sobreira, Johns Hopkins Univ,
Baltimore; Peng Jin, Emory Univ Sch Med, Atlanta
61/1:30 Discordant non-invasive prenatal testing
and cytogenetic results: Is there a cause for 69/1:30 Mutations in TENM4, a regulator of axon
concern? J. Wang, T. Sahoo, S. Schonberg, K. Kopita, guidance and central myelination, cause essential
L. Ross, K. Patek, C. Strom. tremor. H. Hor, L. Francescatto, L. Bartesaghi, S.
Ortega-Cubero, M. Kousi, O. Lorenzo- Betancor,
62/1:45 Implementation of microarray analysis for F. J. Jiménez-Jiménez, A. Gironell, J. Clarimón, O.
oncology samples: Effectiveness for detection of Drechsel, J. A. G. Agúndez, D. Kenzelmann Broz, R.
both copy number changes and copy-neutral loss Chiquet-Ehrismann, A. Lleó, F. Coria, E. García-Martin,
of heterozygosity. S. Schwartz, R. Burnside, I. Gadi, H. Alonso-Navarro, M. J. Martí, J. Kulisevsky, C. N.
V. Jaswaney, E. Keitges, A. Penton, K. Phillips, H. Hor, S. Ossowski, R. Chrast, N. Katsanis, P. Pastor, X.
Risheg, J. Schleede, J. Tepperberg, P. Papenhausen. Estivill.
63/2:00 A cost-effective screen for identifying 70/1:45 Mitochondrial serine protease HTRA2
novel transposable element insertions in human p.G399S in a 6-generation kindred with Essential
genomes. E. M. Kvikstad, G. Lunter. Tremor and Parkinson’s Disease. H. Unal Gulsuner,
S. Gulsuner, N. Durmaz Mercan, O. E. Onat, T. Walsh,
64/2:15 NUC-seq: Single-cell exome sequencing H. Shahin, O. Dogu, T. Kansu, H. Topaloglu, B. Elibol,
using G2/M nuclei. M. L. Leung, Y. Wang, J. Waters, C. Akbostanci, M.-C. King, T. Ozcelik, A. B. Tekinay.
N. E. Navin.
71/2:00 De novo mutations in SIK1 dysregulate
65/2:30 Simple and robust NGS RNA-based assay HDAC5-MEF2C activity and cause Ohtahara
to assess impact of VUS on splicing. E. Girard, syndrome and infantile spasms. J. N. Hansen,
J. Tarabeux, E. Bernard, A. Collet, A. Legrand, V. C. Snow, E. Tuttle, D. Ghoneim, C. Smyser, C. A.
Moncoutier, C. Dehainault, J. P. Vert, D. Stoppa- Gurnett, M. Shinawi, W. B. Dobyns, J. Wheless, M.
Lyonnet, N. Servant, C. Houdayer. W. Halterman, L. A. Jansen, B. M. Paschal, A. R.
Paciorkowski.
66/2:45 Making sense of sequence variation in
PPARG: A comprehensive experimental approach. 72/2:15 Haploinsufficiency of Pumilio1 leads
A. Majithia, J. Flannick, T. Mikkelsen, D. Altshuler. to SCA1-like neurodegeneration by increasing
wild-type Ataxin1 levels in a miRNA-independent
67/3:00 Molecular combing for manner. V. A. Gennarino, R. Singh, J. J. White, K. Han,
fascioscapulohumeral dystrophy type 1: Benefits of A. De Maio, P. Jafar-Nejad, A. di Ronza, H. Kang, H. T.
direct visualization of DNA fibers. C. M. Strom, J. C. Orr, R. V. Sillitoe, H. Y. Zoghbi.
Wang, X. J. Yang, B. H. Nguyen, V. Sulcova, P. Chan,
Y. Liu, A. Anguiano, F. Z. Boyar. 73/2:30 Exome sequencing unveils novel disease-
causing variation in Charcot-Marie-Tooth disease
68/3:15 An augmented exome providing accurate and suggests genetic burden contributes to
structural variant detection. A. Patwardhan, S. phenotypic variability and complex neuropathy. C.
Chervitz, M. Li, J. Harris, G. Bartha, D. Newburger, M. Gonzaga-Jauregui, T. Harel, T. Gambin, M. Kousi, L.
Pratt, S. Garcia, J. Tirch, N. Leng, C. Haudenschild, S. B. Griffin, M. N. Bainbridge, K. S. Lawson, D. Pehlivan,
Luo, D. Church, J. West, R. Chen. Y. Okamoto, M. Withers, P. Mancias, A. Slavotinek, P.
J. Reitnauer, M. Shy, T. O. Crawford, M. Koenig, M.
T. Goksungur, S. Jhangiani, J. Willer, B. N. Flores, W.
Wiszniewski, A. Antonellis, N. Katsanis, D. M. Muzny,
E. Boerwinkle, R. A. Gibbs, J. R. Lupski, Baylor-
Hopkins Center for Mendelian Genomics.
74/2:45 Genome-wide association study identifies

common variants associated with general and
MMR vaccine-related febrile seizures. B. Feenstra,
B. Pasternak, F. Geller, L. Carstensen, T. Wang, F.
Huang, J. L. Eitson, M. V. Hollegaard, H. Svanström,
M. Vestergaard, D. M. Hougaard, J. W. Schoggins, L.
Y. Jan, M. Melbye, A. Hviid.
75/3:00 A genome-wide meta-analysis of migraine 21. Developmental Genetics: Immunodeficiencies and

in more than 59,000 cases and 313,000 controls Autoimmune Disorders
reveals 29 new loci, increasing the total number Room 30, Upper Level, Convention Center
of risk loci to 42. P. Gormley, V. Anttila, M. Muona, Moderators: Wendy K. Chung, Columbia Univ, New
A. Palotie, on behalf of the International Headache York; Simon Mallal, Vanderbilt Sch Med, Nashville
Genetics Consortium (IHGC).
77/1:30 Parallel studies in humans and dogs
76/3:15 Brain somatic mutations cause focal implicate ADAMTS20 in cleft lip and palate
cortical dysplasia type II in human and mouse. J. formation. Z. Wolf, B. Arzi, E. Leslie, J. Shaffer, H.
S. Lim, W. I. Kim, H. C. Kang, S. H. Kim, A. H. Park, S. Brand, C. Willet, N. Karmi, T. McHenry, E. Feingold, X.
Kim, D. Kim, D. S. Kim, J. H. Lee. Wang, J. Murray, M. Marazita, C. Wade, D. Bannasch.
78/1:45 Identification of a novel susceptibility

locus for nonsyndromic cleft lip and palate at
chromosome 15q13. K. U. Ludwig, A. C. Boehmer,
H. Peters, D. Graf, P. Gültepe, P. A. Mossey, R. P.
Steegers-Theunissen, M. Rubini, M. M. Nöthen, M.
Knapp, E. Mangold.
79/2:00 Variants in developmental genes confer

risk of hypospadias. F. Geller, B. Feenstra, L.
Carstensen, T. H. Pers, I. A. L. M. van Rooij, I. B.
Körberg, S. Choudhry, J. Karjalainen, T. H. Schnack,
M. V. Hollegaard, W. F. J. Feitz, N. Roeleveld, D.
M. Hougaard, J. N. Hirschhorn, L. S. Baskin, A.
Nordenskjöld, L. F. M. van der Zanden, M. Melbye.
80/2:15 Increased frequency of de novo predicted

deleterious variants in non-isolated congenital
diaphragmatic hernia. L. Yu, A. Sawle, J. Wynn, G.
Aspelund, C. Stolar, M. Arkovitz, D. Potoka, K. Azarow,
G. Mychaliska, Y. Shen, W. Chung.
81/2:30 A mutation in transferrin receptor 1

that disrupts iron internalization causes a novel
immunodeficiency. S. E. Boyden, H. H. Jabara, J.
Chou, N. Ramesh, M. J. Massaad, L. Notarangelo, M.
D. Fleming, W. Al-Herz, L. M. Kunkel, R. S. Geha.
82/2:45 TRNT1 missense mutations define

an autoinflammatory disease characterized
by recurrent fever, severe anemia, and B-cell
immunodeficiency. M. Stoffels, Q. Zhou, A.
Giannelou, D. Stone, A. Sediva, S. Rosenzweig, J.
Edwan, M. Pelletier, K. Bishop, B. Carrington, R.
Sood, E. F. Remmers, K. Barron, I. Aksentijevich, D. L.

Kastner.
83/3:00 COPA mutations disrupt intracellular

transport and cause a novel autoimmune syndrome
characterized by chronic pulmonary disease with
pulmonary hemorrhages. W. Wiszniewski, L. B.
Watkin, B. Jessen, T. Vece, L. Forbes, C. Gonzaga-
Jauregui, S. N. Jhangiani, D. M. Muzny, E. Boerwinkle,
R. A. Gibbs, A. Shum, J. Orange, J. R. Lupski.
Sunday, October 19
1:30 PM–3:30 PM (SESSION 21, continued)
84/3:15 Mendelian genetic studies of immune

disorders to identify novel targets for therapeutic
intervention. J. McElwee, X. Chen, J. Lyons, G. Sun,
X. Yu, J. Milner, Y. Liuv, Z. Deng, A. Almeida de Jesus,
R. Goldbach-Mansky, Y. Zhang, H. Matthews, H. Su,
M. Lenardo.
Monday, October 20 Monday, October 20
8:00 AM–8:25 AM 8:30 AM–8:45 AM
22. Plenary Abstracts Featured Presentation II 23. ASHG Award for Excellence in Human Genetics
Hall B1, Ground Level, Convention Center Education Presentation
Moderator: Kay E. Davies, Univ. Oxford, UK Hall B1, Ground Level, Convention Center
85/8:00 The Human Knockout Project: systematic The ASHG Award for Excellence in Human Genetics
discovery of loss-of-function variants in humans. Education was established to recognize those who
K. J. Karczewski, V. Narasimhan, M. Lek, M. Rivas, have made significant contributions of exceptional
S. Balasubramanian, M. Gerstein, B. Keating, T. quality and great importance to human genetics
Lappalainen, A. Palotie, M. Daly, D. van Heel, R. education.
Trembath, R. Durbin, D. G. MacArthur.
Introduction:
Shawn E. McCandless
Case Western Reserve University
Recipient:
Suzanne B. Cassidy, MD
Clinical Professor of Pediatrics in
Division of Medical Genetics
University of California, San
Francisco
Well-known for her clinical and research leadership

in Prader-Willi syndrome, Dr. Cassidy has played key
roles in the genetics education of medical students,
residents, and trainees as well as of patients and their
families. She has developed a variety of educational
materials, including three editions of the textbook
Management of Genetic Syndromes, and clinical
genetics training programs across the country.
Throughout her career, Dr. Cassidy has received

numerous honors for her research and teaching,
including election to several advisory boards,
founding editorship for clinical genetics in the journal
Genetics in Medicine, and visiting professorships at
institutions in the United States and abroad. She was
also a member of the founding Residency Review
Committee for Medical Genetics when the field was
first recognized as a medical specialty, and has served
on the American Board of Medical Genetics and
Genomics. She currently serves as president of the
International Prader-Willi Syndrome Organisation.
A longtime member of ASHG, Dr. Cassidy belonged

to the Society’s Information and Education Committee
from 1987-1990, participated in its Rapid Action Task
Force on Genetic Testing in 1995, and was a member
of its Nominating Committee in 2007. She also served
on the ASHG Board of Directors from 1993-1995.
Past Recipients: Jessica G. Davis (2013); Alan Emery

(2012); Giovanni Romeo (2011); Thomas D. Gelehrter
(2010); Bruce R. Korf (2009); John Carey, Lynn Jorde,
and Louisa Stark (2008); Robert Elston (2007); Roberta
“Bonnie” Pagon (2006); Joseph McInerney (2005).

8:45 AM–9:00 AM 8:45 AM–9:00 AM (SESSION 24, continued)
24. ASHG Victor A. McKusick Leadership Award An ASHG member since 1982, Dr. Valle belonged
Presentation to ASHG’s Nominating Committee from 1995-1996
Hall B1, Ground Level, Convention Center and its Awards Committee from 2001-2003, and was
Chair of the Awards Committee from 2006-2008. He
ASHG named this prestigious award to honor Dr. served on the Editorial Board of The American Journal
Victor A. McKusick’s far-reaching contributions to of Human Genetics from 1989-1991, and since 1992,
human genetics. The McKusick Leadership Award has co-directed the annual Short Course in Medical
is presented to an individual whose professional and Experimental Mammalian Genetics. In addition,
achievements have fostered and enriched the Dr. Valle was part of ASHG’s Board of Directors from
development of human genetics. Recipients of this 1990-1992 and 2002-2005, including a year as its
award exemplify the enduring leadership and vision President in 2003.
required to ensure that human genetics will flourish
and successfully assimilate into the broader context of Past Recipients: Kurt and Rochelle Hirschhorn (2013);
science, medicine, and health. Francis Collins (2012); Leon E. Rosenberg (2011);
Charles J. Epstein (2010); Arno G. Motulsky (2009);
Introduction: Victor A. McKusick (2008); Walter Nance (2007); David
Rod R. McInnes Rimoin (2006).
Lady Davis Res. Institute
Jewish General Hospital
Recipient:
David Valle, MD
Henry J. Knott Professor and
Director, McKusick-Nathans Institute
of Genetic Medicine
Professor, Departments of Biology
and Ophthalmology, Johns Hopkins
University School of Medicine
Dr. Valle’s research has focused on the genetic

factors underlying human health and disease,
including specific genetic diseases as well as the
broader gene-protein interactions that contribute
to various health conditions. Notable achievements
include characterizing the molecular basis of many
single-gene disorders, developing mouse models
to study human disorders, and analyzing genetic
variants associated with psychiatric diseases such
as schizophrenia. In addition, he has led efforts to
improve genetics education by developing medical
genetics curricula; editing the widely-used biochemical
genetics textbook The Metabolic and Molecular Bases
of Inherited Disease; and directly training more than
500 students, fellows, and clinical residents.
Dr. Valle was inducted into the Institute of Medicine

of the National Academy of Sciences in 2002 and
named a Fellow of the American Association for the
Advancement of Science in 2007. He has received
numerous awards for his research and teaching,
including the March of Dimes Foundation’s Colonel
Harland Sanders Award for Lifetime Achievement in
Genetics Research and Education in 2003 and several
honorary lectureships.
9:15 AM–9:30 AM 9:15 AM–9:30 AM (SESSION 25, continued)
25. ASHG Curt Stern Award Presentation Dr. Daly has made key advances in the genetic
Hall B1, Ground Level, Convention Center mapping of common diseases, including the
development of the first human genome maps of
The Curt Stern Award honors the memory of Curt single-nucleotide polymorphisms. He also helped
Stern (1902-1981) as an outstanding pioneering establish a framework for the association of portions of
human geneticist. This award is presented yearly for the genome to complex disease risk and the regulation
outstanding scientific achievements in human genetics of gene expression. In addition, he has led scientific
that occurred in the first 10 years of a research career, consortia focusing on genome mapping, inflammatory
while the recipient is still in an early career stage. The bowel disease, autism, and schizophrenia, and has
work may be a single major discovery or a series of contributed to statistical methods and software
contributions on a similar or related topic. tools that are routinely used by human geneticists
worldwide.
Introduction:
Michael Boehnke Publisher Thomson-Reuters has listed both Dr.
University of Michigan Abecasis and Dr. Daly multiple times among the
world’s most cited scientific authors, and they have
Co-Recipient: worked together on the International HapMap Project
and the 1000 Genomes Project. Both awardees
have also made substantial contributions to ASHG,
as longtime members of the Society and frequent
presenters at its Annual Meeting.
Past Recipients: John F. Moran (2013); Jay Shendure

Gonçalo R. Abecasis, DPhil (2012); David Altshuler (2011); Vivian Cheung (2010);
Felix Moore Collegiate Professor of David Haussler and James Kent (2009); Evan Eichler
Biostatistics, University of Michigan (2008); Jeffrey Murray (2007); Hal Dietz (2006); Patrick
School of Public Health Brown (2005).
Introduction:
Aarno Palotie
Massachusetts General Hospital
Co-Recipient:
Mark J. Daly, PhD

Associate Professor of Medicine and
Chief of the Analytic and Translational
Genetics Unit, Massachusetts
General Hospital/Harvard Medical
School
Senior Associate Member, Broad
Institute
This year’s Curt Stern Award honors the early-career

contributions of two human geneticists, Gonçalo R.
Abecasis and Mark J. Daly.
Dr. Abecasis has developed statistical and

mathematical methods for the analysis of genetic
data that have evolved into standard tools in human
genetics. In an era of exponential growth in genetic
data, his software helps geneticists analyze studies
of families and unrelated individuals, characterize
variation among genomes, study connections between
genetic variation and human disease, and integrate
information across gene-mapping studies. He has
also led scientific consortia studying a variety of
human traits ranging from obesity and heart disease
to age-related vision loss, and is currently using
next-generation sequencing technology to study large
collections of human genomes.

9:30 AM–10:00 AM 10:30 AM–12:30 PM
Concurrent Platform Session B
26. ASHG William Allan Award Presentation
Hall B1, Ground Level, Convention Center 27. Cloudy with a Chance of Big Data
Hall B1, Ground Level, Convention Center
The William Allan Award is the top prize given by
Moderators: Paul Flicek, European Bioinformatics Inst,
the American Society of Human Genetics. It was
Cambridge, UK; Terry Gaasterland, UC San Diego
established in 1961 in memory of William Allan (1881-
1943), who was one of the first American physicians
86/10:30 Using compressed data structures to
to conduct extensive research in human genetics.
capture variation in thousands of human genomes.
The Allan Award is presented annually to recognize
S. A. McCarthy, Z. Lui, J. T. Simpson, Z. Iqbal, T. M.
substantial and far-reaching scientific contributions to
Keane, R. Durbin.
human genetics, carried out over a sustained period of
scientific inquiry and productivity.
87/10:45 Exploring genetic variation and genotypes
among millions of genomes. R. M. Layer, A. R.
Introduction:
Quinlann.
Haig Kazazian
Johns Hopkins University
88/11:00 Databases, genome repositories, and
clinical applications to interpret personal genome
Recipient: for precision and preventative therapies. R. Chen.
Stuart H. Orkin, MD
David G. Nathan Professor of 89/11:15 dbGaP genotype fingerprint collection. Y.
Pediatrics, Harvard Medical School Jin, S. Stefanov, S. Dracheva, Z. Wang, N. Sharopova,
Chairman, Department of Pediatric A. Sturcke, S. Sherry, M. Feolo.
Oncology, Dana-Farber Cancer
Institute 90/11:30 Integrated analysis of microRNA
Associate Chief of Hematology/ expression, UTR binding sites, and human variation
Oncology, Boston Children’s Hospital in ocular tissues. T. Gaasterland, A. N. Dubinsky, L. E.
Investigator, Howard Hughes Medical Edsall, T. S. Mondala, P. Ordoukhanian, S. R. Head.
Institute
91/11:45 Second-generation PLINK: Rising to
Dr. Orkin has pioneered research into the genetics the challenge of larger and richer datasets. C. C.
of blood diseases, including identifying the primary Chang, C. C. Chow, L. C. A. M. Tellier, S. Vattikuti, S.
mutations that cause them, defining factors that M. Purcell, J. J. Lee.
regulate how these mutations are expressed in blood
cells, and applying these findings to medicine. In the 92/12:00 Microtask crowdsourcing for annotating
1970s and early 1980s, his laboratory comprehensively diseases in PubMed abstracts. A. I. Su, B. M. Good,
KLMPULKT\[H[PVUZ[OH[SLHK[V[OLʹ[OHSHZZLTPHZ M. Nanis.
and in the mid-1980s, they became the first group to
successfully clone a gene causing a disease without 93/12:15 Automating literature reviews: Predicting
already knowing the encoded protein. More recently, variant pathogenicity using the bibliomic index. C.
Dr. Orkin’s laboratory characterized the switch from A. Cassa, D. M. Jordan, S. R. Sunyaev.
fetal to adult hemoglobin, including its regulation
and the basis for genetic variation. They are currently
exploring ways to translate these insights into new
treatments for thalassemias and sickle cell anemia.
Dr. Orkin was elected to the National Academy of

Sciences (NAS) in 1991 and the Institute of Medicine in
1992. In 2005, he received the Association of American
Medical Colleges Distinguished Research Award
and in 2013, he received the NAS Jessie Stevenson
Kovalenko Medal. In addition to his contributions to
human genetics, Dr. Orkin is a longtime member of
ASHG and has served on the editorial board of The
American Journal of Human Genetics.
Past Recipients: Aravinda Chakravarti (2013); Uta

Francke (2012); John M. Opitz (2011); Jurg Ott (2010);
Huntington F. Willard (2009); Haig Kazazian (2008);
Arthur Beaudet (2007); Dorothy Warburton (2006);
Francis Collins (2005).
10:30 AM–12:30 PM 10:30 AM–12:30 PM
Concurrent Platform Session B Concurrent Platform Session B
28. Architecture and Impact of Human Knockout 29. Population Structure, Admixture, and Human
Alleles History
Room 6AB, Upper Level, Convention Center Room 6CF, Upper Level, Convention Center
Moderators: Tuuli Lappalainen, Columbia Univ, New Moderators: Eimear Kenny, Icahn Sch Med Mount
York; Eric Boerwinkle, Baylor Col Med, Houston Sinai, New York; Jeff Kidd, Univ Michigan, Ann Arbor
94/10:30 Integrated analysis of protein-coding 102/10:30 Capture of 390,000 SNPs in dozens of

variation in over 90,000 individuals from exome ancient central Europeans reveals a population
sequencing data. D. G. MacArthur, M. Lek, E. Banks, turnover in Europe thousands of years after the
R. Poplin, T. Fennell, K. Samocha, B. Thomas, K. advent of farming. I. Lazaridis, W. Haak, N. Patterson,
Karczewski, S. Purcell, P. Sullivan, S. Kathiresan, M. I. N. Rohland, S. Mallick, B. Llamas, S. Nordenfelt, E.
McCarthy, M. Boehnke, S. Gabriel, D. M. Altshuler, G. Harney, A. Cooper, K. W. Alt, D. Reich.
Getz, M. J. Daly, Exome Aggregation Consortium.
103/10:45 Insights into British and European
95/10:45 Identification of a large set of rare population history from ancient DNA sequencing
complete human knockouts. P. Sulem, H. Helgason, of Iron Age and Anglo-Saxon samples from
A. Oddson, H. Stefansson, SA. Gudjonsson, F. Zink, Hinxton, England. S. Schiffels, W. Haak, B. Llamas,
E. Hjartasson, G. Sigurdsson, A. Jonasdottir, A. E. Popescu, L. Loe, R. Clarke, A. Lyons, P. Paajanen,
Sigurdsson, O. Magnusson, A. Kong, A. Helgason, D. Sayer, R. Mortimer, C. Tyler-Smith, A. Cooper, R.
U. Thorsteinsdottir, G. Masson, D. Gudbjartsson, K. Durbin.
Stefansson.
104/11:00 Fine-scale population structure in
96/11:00 Making sense of nonsense: Consequence Europe. S. Leslie, G. Hellenthal, S. Myers, P. Donnelly,
of premature stop mutations. S. Balasubramanian, International Multiple Sclerosis Genetics Consortium.
Y. Fu, M. Pawashe, M. Jin, J. Liu, D. MacArthur, M.
Gerstein. 105/11:15 The population structure and
demographic history of Sardinia in relationship to
97/11:15 Analysis of stop-gain and frameshift neighboring populations. J. Novembre, C. Chiang, J.
variants in human innate immunity genes. A. Marcus, C. Sidore, M. Zoledziewska, M. Steri, H. Al-
Rausell, P. Mohammadi, PJ. McLaren, I. Bartha, I. asadi, G. Abecasis, D. Schlessinger, F. Cucca.
Xenarios, J. Fellay, A. Telenti.
106/11:30 Population structure in African-
98/11:30 Insights into protein truncating variation Americans. S. Gravel, M. Barakatt, B. Maples, M.
from high-quality indel calling in 1000 UK Aldrich, E. E. Kenny, C. D. Bustamante, S. Baharian.
population exomes - implications for disease gene
discovery and clinical utility. E. Ruark, A. Renwick, E. 107/11:45 Genetic testing of 400,000 individuals
Ramsay, S. Seal, K. Snape, S. Hanks, A. Rimmer, M. reveals the geography of ancestry in the United
Munz, A. Elliott, G. Lunter, N. Rahman. States. Y. Wang, J. M. Granka, J. K. Byrnes, M. J.
Barber, K. Noto, R. E. Curtis, N. M. Natalie, C. A. Ball,
99/11:45 Exome sequencing of fit adults with high K. G. Chahine.
parental relatedness identifies over 600 rare human
gene knockouts. V. Narasimhan, K.J. Karczewski, 108/12:00 Statistical inference of archaic
K.A. Hunt, Y. Xue, P. Danecek, S. Mccarthy, C. Tyler- introgression and natural selection in Central
Smith, C. Griffiths, J. Wright, E.R. Maher, D. Macarthur, African Pygmies. P. Hsieh, J. D. Wall, J. Lachance, S.
R.C. Trembath, D.A. van Heel, R.M. Durbin. A. Tishkoff, R. N. Gutenkunst, M. F. Hammer.
100/12:00 Analysis of loss-of-function variants in 109/12:15 Inferences about human history and
8,612 deeply-phenotyped individuals identifies natural selection from 280 complete genome
novel loci for common chronic disease. A. H. Li, A. sequences from 135 diverse populations. S.
C. Morrison, G. Metcalf, L. A. Cupples, J. A. Brody, L. Mallick, D. Reich, Simons Genome Diversity Project
M. Polfus, B. Yu, N. Veeraraghavan, X. Liu, T. Lumley, Consortium.
D. Muzny, T. H. Mosley, R. A. Gibbs, E. Boerwinkle.
101/12:15 Loss-of-function variants influence the

human metabolome. B. Yu, A.H. Li, G. Metcalf, D.M.
Muzny, A.C. Morrison, T.H. Mosley, R.A. Gibbs, E.
Boerwinkle.

10:30 AM–12:30 PM 10:30 AM–12:30 PM (SESSION 30, continued)
30. Neurogenetics: From Gene to Mechanism (1) 117/12:15 The importance of neurosteroid
Room 6DE, Upper Level, Convention Center hormones in the pathogenesis of protocadherin 19
Moderators: Stephanie Bielas, Univ Michigan, Ann female limited epilepsy and intellectual disability
Arbor; Stephan Züchner, Univ Miami (PCDH19-FE). J. Gecz, C. Tan, E. Ranieri, D. Pham,
C. Shard, K. Hynes, E. Douglas, L. S. Nguyen, M.
110/10:30 Galanin mutations in temporal lobe Corbett, D. Leach, G. Buchanan, E. Haan, L. G.
epilepsy. M. Guipponi, A. Chentouf, K. E. B. Webling, Sadleir, C. Depienne, R. S. Moller, R. Guerrini, C.
K. Freimann, A. Crespel, C. Nobile, T. Dorn, J. Hansen, Marini, S. F. Berkovic, I. E. Scheffer.
J. Lemke, G. Lesca, F. Becker, U. Stephani, H. Muhle,
I. Helbig, P. Ryvlin, E. Hirsch, G. Rudolf, C. Gehrig, F.
Santoni, M. Pizzato, U. Langel, S. E. Antonarakis.
111/10:45 Homozygous mutations in SLC6A17

are causative for autosomal recessive intellectual
disability. H. van Bokhoven, Z. Iqbal, M. H. Willemsen,
MA. Papon, H. Venselaar, W. M. Wissink-Lindhout, M.
Benevento, A. T. Vulto-van Silfhout, L. E. L. M. Vissers,
A. P.M. de Brouwer, N. Nadif Kasri, T. F. Wienker, H.
Hilger Ropers, L. Musante, K. Kahrizi, H. Najmabadi, F.
Laumonnier, T. Kleefstra.
112/11:00 De novo KCNB1 mutations in epileptic

encephalopathy. A. Torkamani, K. Bersell, B. S. Jorge,
R. L. Bjork, J. R. Friedman, C. S. Bloss, S. E. Topol,
G. Zhang, J. Lee, J. Cohen, S. Gupta, S. Naidu, C. G.
Vanoye, A. L. George, J. A. Kearney.
113/11:15 A Drosophila genetic resource facilitates

the identification of variants in ANKLE2 in a unique
family with severe microcephaly. W.-L. Charng, M.
Jaiswal, N. Link, S. Yamamoto, T. Gambin, E. Karaca,
G. Mirzaa, W. Wiszniewski, B. Xiong, V. Bayat, T.
Harel, D. Pehlivan, S. Penney, L. E. Vissers, J. de Ligt,
S. Jhangiani, D. Muzny, R. D. Clark, C. J. Curry, E.
Boerwinkle, W. B. Dobyns, R. A. Gibbs, R. Chen, M. F.
Wangler, H. J. Bellen, J. R. Lupski.
114/11:30 Additive toxicity of SOX10 mutation

underlies a complex neurological phenotype
of PCWH. K. Inoue, Y. Ito, N. Inoue, Y. U. Inoue,
S. Nakamura, Y. Matsuda, M. Inagaki, T. Ohkubo,
J. Asami, Y. W. Terakawa, S. Kohsaka, Y. Goto, C.
Akazawa, T. Inoue.
115/11:45 Paving the road to elaborate the genetics

of intellectual disabilities. H. Najmabadi, H. Hu, Z.
Fattahi, S. Abedini, M. Hosseini, F. Larti, R. Jazayeri,
M. Oladnabi, M. Mohseni, T. Wienker, L. Musante, K.
Kahrizi, H. H. Ropers.
116/12:00 KIRREL3, associated with intellectual

disability and autism, functions as a presynaptic
organizer and interacts with proteins with roles in
neurodevelopment. A. K. Srivastava, Y. F. Liu, Y. Luo,
A. Chaubey, H.-G. Kim, S. M. Sowell.
31. Cardiovascular Genetics I: Single Gene Stories 124/12:00 FLNC is a novel gene for dilated
Room 20A, Upper Level, Convention Center cardiomyopathy in two families. R. L. Begay, A.
Moderators: Pinar Bayrak-Toydemir, Univ. Utah, Salt Martin, S. L. Graw, D. B. Slavov, C. A. Tharp, M.
Lake City; Eric Villard, INSERM/UPMC, Paris, France Sweet, F. Brun, K. L. Jones, K. Gowan, D. Miani, G.
Sinagra, L. Mestroni, D. M. Garrity, M. R. G. Taylor.
118/10:30 Mutations in SGOL1 cause a novel
cohesinopathy affecting heart and gut rhythm. N. 125/12:15 Genome-wide association study on
Gosset, P. Chetaille, J.-M. Côté, C. Houde, C. Preuss, secundum atrial septal defects. L. Rodriguez-
S. Burkharda, J. Castilloux, J. Piché, S. Leclerc, F. Murillo, M. Parfenov, I. Peter, W. K. Chung, L. Mitchell,
Wünnemann, M. Thilbault, C. Gagnon, A. Galli, E. A. J. Agopian, C. Seidman, J. Seidman, B. D. Gelb,
Tuck, G.-R. X. Hickson, N. El Amine, F. LeDeist, E. Pediatric Cardiac Genomics Consortium.
Lemyre, P. De Santa Barbara, S. Faure, A. Jonzon, M.
Cameron, H. Dietz, E. Gallo-McFarlane, W. Benson,
Y. Shen, M. Jomphe, S.-J. M. Jones, J. Bakkers, G.
Andelfinger.
119/10:45 Functional characterization of long-QT

syndrome- and sudden infant death-associated
OLFML2B mutations. T. A. Plötz, C. J. Gloeckner,
A. Kiper, M. Vennemann, M. Kartmann, M. Schell, H.
Prucha, C. Congiu, Z. Schäfer, S. Hauck, I. Sinicina, E.
Kremmer, B. M. Beckmann, F. Domingues, T. Meitinger,
A. Peters, M. Cohen, S. Kääb, J. J. Schott, E. R. Behr,
T. Bajanowski, S. Just, H. W. Mewes, M. Ueffing, N.
Decher, M. Näbauer, A. Pfeufer.
120/11:00 EIF2AK4 (GCN2) mutations cause

pulmonary veno-occlusive disease, a severe form
of pulmonary hypertension. F. Soubrier, M. Eyries,
D. Montani, B. Girerd, C. Perret, A. Leroy, C. Lonjou,
N. Chelghoum, F. Coulet, D. Bonnet, P. Dorfmuller, E.
Fadel, O. Sitbon, G. Simonneau, D.-A. Tregouet, M.
Humbert.
121/11:15 Delineation and therapeutic implications

of a modifier locus of aortic aneurysm in Marfan
syndrome. A. Doyle, J. Doyle, K. Kent, L. Myers,
N. Wilson, N. Huso, D. Bedja, M. Lindsay, J. Pardo-
Habashi, B. Loeys, J. De Backer, A. De Paepe, H.
Dietz.
122/11:30 Mutations in FOXE3/Foxe3 cause familial

thoracic aortic aneurysms and dissections. S. Q.
Kuang, O. Medina-Martinez2, D. C. Guo, L. Gong, E.
S. Regalado, C. Boileau, G. Jondeau, S. K. Prakash,
A. M. Peters, H. Pannu, M. J. Bamshad, J. Shendure,

D. A. Nickerson, C. L. Reynolds, M. Jamrich, D. M.
Milewicz.
123/11:45 Titin truncations: dissection of genotype

and cardiac phenotype. A. Roberts, J. Ware, D.
Herman, S. Schafer, J. Baksi, R. Buchan, R. Walsh, S.
John, S. Wilkinson, L. Felkin, A. Bick, F. Mazzarotto,
M. Radke, M. Gotthardt, P. Barton, N. Hubner, J.
Seidman, C. Seidman, S. Cook.

10:30 AM–12:30 PM 10:30 AM–12:30 PM
32. Molecular Insights into Mendelian Disorders 33. Genomic Alterations of Tumors
Room 20BC, Upper Level, Convention Center Room 20D, Upper Level, Convention Center
Moderators: Daryl Scott, Baylor Col Med, Houston; Moderators: John McPherson, Ontario Inst Cancer
Ethylin W. Jabs, Mount Sinai Sch Med, New York Res, Toronto; Li Ding, Washington Univ in St. Louis
126/10:30 Clinical comparison of Kabuki syndrome 134/10:30 Analysis of mutational landscape and
with KMT2D and KDM6A mutations. N. Miyake, E. genetic heterogeneity in liver cancer with whole
Koshimizu, N. Matsumoto, N. Niikawa. genome sequencing. A. Fujimoto, M. Furuta, Y.
Shiraishi, H. H. Nguyen, D. Shigemizu, K. Gotoh,
127/10:45 Mutations in KMT2D, ZBTB24, and Y. Kawakami, T. Nakamura, M. Ueno, S. Ariizumi,
KMT2A in patients with clinical diagnosis of Kabuki T. Shibata, H. Ojima, K. Shimada, S. Hayami, Y.
syndrome lead to shared epigenetic abnormalities Shigekawa, H. Aikata, K. Arihiro, H. Ohdan, S.
of target genes. N. Sobreira, L. Zhang, C. Ongaco, J. Marubashi, T. Yamada, O. Ishikawa, M. Kubo, S.
Romm, M. Baker, K. Doheny, D. Bertola, K. Chong, A. Hirano, M. Yamamoto, H. Yamaue, K. Chayama, S.
B. A. Perez, M. Melaragno, V. Meloni, C. Ladd-Acosta, Miyano, T. Tsunoda, H. Nakagawa.
D. Valle, H. T. Bjornsson.
135/10:45 Abundant somatic L1 retrotransposition
128/11:00 Noonan syndrome due to RIT1 mutations: occurs early during colorectal and pancreatic
Further clinical and molecular delineation in 32 tumorigenesis. S. Solyom, A. D. Ewing, A. Gacita,
cases. A. Verloes, A. Caye, A. Dieux Coeslier, C. L. D. Wood, F. Ma, A. Makohon-Moore, D. Xing, R.
Baumann, C. Vincent-Delorme, P. Bouvagnet, A. Hruban, C. A. Iacobuzio-Donahue, S. J. Meltzer, B.
David, D. Lacombe, P. Blanchet, B. Isidor, M. Rio, D. Vogelstein, K. W. Kinzler, H. H. Kazazian.
Héron, S. Sauvion, J. L. Alessandri, V. Drouin-Garraud,
B. Doray, N. Pouvreau, A. Cavé. 136/11:00 Cis-regulatory drivers in colorectal
cancer. H. Ongen, C. L. Andersen, J. B. Bramsen, B.
129/11:15 Whole exome sequencing in 78 Noonan Oster, M. H. Rasmussen, P. G. Ferreira, J. Sandoval,
syndrome individuals identifies two new candidate E. Vidal, N. Whiffin, I. Tomlinson, R. S. Houlson, M.
genes. G. L. Yamamoto, R. Atique, M. Aguena, Esteller, T. F. Orntoft, E. T. Dermitzakis.
L. Testai, M. Buscarilli, A. Jorge, A. C. Pereira, A.
Malaquias, C. A. Kim, M. R. Passos-Bueno, D. R. 137/11:15 Somatic mutations modulate ceRNA
Bertola. drivers of tumorigenesis. J. He, H.-S. Chiu, P.
Sumazin, A. Califano.
130/11:30 NSD1+/- DNA methylation (DNAm)
signature: A novel functional diagnostic tool for 138/11:30 Divergence between high metastatic
Sotos syndrome. S. Choufani, C. Cytrynbaum, B. H. tumor burden and low circulating tumor DNA
Y. Chung, A. L. Turinsky, D. Grafodatskaya, Y. A. Chen, concentration in metastasized breast cancer. M.
H. M. Luk, I. F. M. Lo, S. T. S. Lam, D. J. Stavropoulos, Heidary, M. Auer, P. Ulz, E. Heitzer, E. Petru, C. Gasch,
B. Gibson, M. Reardon, M. Brudno, R. Mendoza- S. Riethdorf, O. Mauermann, I. Lafer, G. Pristauz, S.
Londono, D. Chitayat, R. Weksberg. Lax, K. Pantel, J.B. Geigl, M.R. Speicher.
131/11:45 A new neurodevelopmental-congenital 139/11:45 Extrachromosomal driver mutations in

heart disease syndrome caused by variants in a glioblastoma and low grade glioma. S. I. Nikolaev,
novel disease gene, TELO2. J. You, N. Sobreira, D. F. Santoni, M. Garieri, P. Makrythanasis, E. Falconnet,
Gable, J. Jurgens, D. Valle, M. Armanios, J. Hoover M. Guipponi, A. Vannier, I. Radovanovic, F. Bena, K.
Fong. Schaller, V. Dutoit, V. Clement-Schatlo, P.-Y. Dietrich,
S. E. Antonarakis.
132/12:00 A novel variant in tenascin-X may be
associated with an Ehlers Danlos phenotype in 140/12:00 Automated tumor phylogeny
patients with congenital adrenal hyperplasia. R. reconstruction using multi-sample deep sequencing
Morissette, W. Chen, Z. Xu, J. Dreiling, M. Quezado, N. somatic variants. V. Popic, R. Salari, D. Kashef-
McDonnell, D. Merke. Haghighi, D. Newburger, R. West, S. Batzoglou.
133/12:15 The impairment of MAGMAS function 141/12:15 Development and validation of a ultra-
in humans is responsible for a severe skeletal high depth FFPE targeted exome sequencing
dysplasia. C. Mehawej, A. Delahodde, L. Legeai- platform for routine cancer patient care. K. Chen,
Mallet, V. Delague, N. Kaci, J.-P. Desvignes, Z. F. Meric-Bernstam, H. Zhao, Q. Zhang, N. Ezzeddine,
Kibar, J.-M. Capo-Chichi, E. Chouery, A. Munnich, V. L. Tang, P. Song, Y. Qi, Y. Mao, T. Chen, Z. Chong, W.
Cormier-Daire, A. Mégarbané. Zhou, X. Zheng, A. Johnson, S. Kopetz, M. Davies,
J. DeGroot, S. Moulder, K. Aldape, M. Routbort, R.
Luthra, K. Shaw, J. Mendelsohn, G. Mills, A. Eterovic.
10:30 AM–12:30 PM 10:30 AM–12:30 PM
34. Metabolic Disorders: New Diagnostics and 35. Looking between the Streetlamps: Variant Phasing
Pathogenic Insights and Imputation
Moderators: Bruce Barshot, UC San Diego; Tina Moderators: Heather Cordell, Newcastle Univ,
Cowan, Stanford Univ, Palo Alto Newcastle, UK; Dale Nyholt, QIMR, Herston, Australia
142/10:30 Novel insights regarding the 150/10:30 A genotype likelihood based phasing and
pathogenesis and treatment of pseudoxanthoma imputation method for massive sample sizes of
elasticum. S. G. Ziegler, C. R. Ferreira, A. B. low-coverage sequencing data. W. Kretzschmar, J.
Pinkerton, J. L. Millan, W. A. Gahl, H. C. Dietz. Marchini, The Haplotype Reference Consortium.
143/10:45 Decipher mitochondrial disorders 151/10:45 Imputation server: Next-generation

using exome sequencing. R. Kopajtich, T. Haack, genotype imputation service. C. Fuchsberger, L.
L. Kremer, C. Biagosch, B. Haberberger, T. Wieland, Forer, S. Schönherr, F. Kronenberg, G. Abecasis.
T. Schwarzmayr, P. Freisinger, T. Klopstock, J. Mayr,
W. Sperl, M. Minczuk, T. M. Strom, T. Meitinger, H. 152/11:00 Improved haplotype phasing using
Prokisch. identity by descent. B. L. Browning, S. R. Browning.
144/11:00 Distinct clinical phenotypes in two 153/11:15 Reducing pervasive false positive
unrelated patients with mutations in the TRNT1 identical-by-descent segments detected by large-
gene encoding tRNA nucleotidyl transferase. F. scale pedigree analysis. E. Y. Durand, N. Eriksson, C.
Sasarman, I. Thiffault, W. Weraarpachai, S. Salomon, Y. McLean.
C. Maftei, J. Gauthier, N. Webb, O. Elpeleg, C. Brunel-
Guitton, G. Mitchell, E. A. Shoubridge. 154/11:30 Parente2: A fast and accurate method
for detecting identity by descent. S. Bercovici, J. M.
145/11:15 Mutation in the tRNA-modification Rodriguez, L. Huang, S. Batzoglou.
enzyme GTPBP3 causes hypertrophic
cardiomyopathy with abnormal respiratory chain 155/11:45 Underdog: A fully-supervised phasing
assembly. M. Metodiev, Z. Assouline, M. Rio, F. Feillet, algorithm that learns from hundreds of thousands
B. Mousson de Cameret, D. Chretien, A. Munnich, A. of samples and phases in minutes. K. Noto, Y.
Rötig. Wang, M. Barber, J. Granka, J. Byrnes, R. Curtis, N.
Myres, C. Ball, K. Chahine.
146/11:30 Application of cellular O-linked
glycomics analysis for the diagnosis of protein 156/12:00 Fast PCA of very large samples in linear
glycosylation disorders. M. He, X. Li, M. Raihan, L. time. K. J. Galinsky, P. Loh, G. Bhatia, S. Georgiev, S.
Tan, M. Bennett, W. Gahl, M. Davids, M. Kane, C. F. Mukherjee, N. J. Patterson, A. L. Price.
Boerkoel.
157/12:15 Fast detection of IBD segments
147/11:45 Metabolic diversion towards non-toxic associated with quantitative traits in genome-wide
metabolites for therapy of primary hyperoxaluria association studies. Z. Wang, E. Kang, B. Han, S.
type 1. R. Castello, R. Borzone, P. Annunziata, P. Snir, E. Eskin.
Piccolo, N. Brunetti-Pierri.
148/12:00 Transcriptome and microRNA profiling

reveals deregulated microRNAs and mRNAs in the
brain of neuronopathic Gaucher disease mice. Y.

Sun, N. Dasgupta, Y. Xu, B. Liou, R. Li, Y. Peng, M.
Pandey, S. Tinch, V. Inskeep, G. A. Grabowski.
149/12:15 A mouse model of cblA class isolated

methylmalonic acidemia displays reduced survival,
growth failure, renal disease and secondary
mitochondrial dysfunction. M. W. Epping, C. X.
Wang, P. M. Zerfas, G. Elliot, L. Li, I. Manoli, C. P.
Venditti.

10:30 AM–12:30 PM 4:30 PM–6:30 PM
Concurrent Platform Session B Concurrent Platform Session C
36. Chromatin, Gene Regulation and Expression 37. From Bytes To Phenotypes
Room 30, Upper Level, Convention Center Hall B1, Ground Level, Convention Center
Moderators: Reid Alisch, Univ Wisconsin, Madison; Moderators: Ada Hamosh, Johns Hopkins Univ,
Tony Capra, Vanderbilt Univ, Nashville Baltimore; Steven E. Brenner, UC Berkeley
158/10:30 Large-scale profiling of sequence 166/4:30 Investigation of synthetic association in

variation affecting transcription factor occupancy GWAS using pheWAS and exome sequencing. L.
in vivo. M. T. Maurano, E. Haugen, R. Sandstrom, J. Bastarache, J. Bochenek, T. Edwards, Y. Xu, J. Pulley,
Vierstra, J. A. Stamatoyannopoulos. E. Bowton, H. Mo, W. Wei, L. Wiley, D. Roden, J.
Denny.
159/10:45 Consider the geneset: Why the
transcripts used for variant annotation matter. A. 167/4:45 Beware of circularity: A critical
Frankish, J.M. Mudge, R. Petryszak, G.R.S. Ritchie, A. assessment of the state of the art in
Brazma, J.L. Harrow, GENCODE Consortium. deleteriousness prediction of missense variants.
C. A. Azencott, D. Grimm, J. W. Smoller, L. Duncan, K.
160/11:00 Multi-sample isoform quantification from Borgwardt.
RNA-seq. A. E. Byrnes, J. B. Maller, A. R. Sanders, J.
Nemesh, T. Sullivan, H. H. Göring, J. Duan, W. Moy, E. 168/5:00 Application of clinical text data for
I. Drigalenko, P. V. Gejman, B. M. Neale. phenome-wide association studies. S. J. Hebbring,
M. Rastegar-Mojarad, Z. Ye, J. Mayer, C. Jacobson,
161/11:15 Characterizing the genetic architecture S. Lin.
of gene expression variation in wild baboons via
RNA sequencing. X. Zhou, J. Tung, S. Alberts, J. 169/5:15 The warped linear mixed model: Finding
Altmann, M. Stephens, Y. Gilad. optimal phenotype transformations yields a
substantial increase in signal in genetic analyses.
162/11:30 Genetic control of chromatin in a human N. Fusi, C. Lippert, N. Lawrence, O. Stegle.
population. O. Delaneau, S. Waszak, A. Gschwind,
H. Kilpinen, S. Raghav, R. Witwicki, A. Orioli, M. 170/5:30 PhenomeCentral: An integrated portal for
Wiederkehr, M. Gutierrez-Arcelus, N. Panousis, A. sharing patient phenotype and genotype data for
Yurovsky, T. Lappalainen, L. Romano-Palumbo, rare genetic disorders. M. Brudno, M. Girdea, O. J.
A. Planchon, D. Bielser, I. Padioleau, G. Udin, S. Buske, S. Dumitriu, H. Trang, T. Hartley, D. Smedley, S.
Thurnheer, D. Hacker, N. Hernandez, A. Reymond, B. Kohler, P. N. Robinson, T. E. Dudding, H. Lochmuller,
Deplancke, E. Dermitzakis. C. F. Boerkoel, W. A. Gahl, K. Boycott, Canadian CARE
for RARE, NIH Undiagnosed Diseases Program, RD-
163/11:45 Chromatin accessibility profiling of Connect, CARE for RARE Australia.
developing cerebellar granule neurons reveals
novel neuronal enhancers and regulatory scheme 171/5:45 Facilitating the interpretation of rare
for ZIC transcription factors. C. L. Frank, F. Liu, R. pathogenic variation in a clinical setting with
Wijayatunge, L. Song, C. M. Vockley, A. Safi, G. E. DECIPHER. G. J. Swaminathan, E. Bragin, E. A.
Crawford, A. E. West. Chatzimichali, S. Brent, A. P. Bevan, H. V. Firth, M. E.
Hurles.
164/12:00 Identification and characterization of
enhancer and target gene pairs in mammalian 172/6:00 GeneMatcher: A matching tool for
genomes. Y.-C. Hwang, C.-F. Lin, O. Valladares, J. identification of individuals with mutations in the
Malamon, Q. Zheng, B. Gregory, L.-S. Wang. same gene. A. Hamosh, N. Sobreira, F. Schiettecatte,
D. Valle.
165/12:15 Domains of genome-wide gene
expression dysregulation in Down syndrome. S. E. 173/6:15 Findings from the Critical Assessment of
Antonarakis, A. Letourneau, F. A. Santoni, X. Bonilla, Genome Interpretation, a community experiment
M. R. Sailani, D. Robyr, D. Gonzalez, J. Kind, C. to evaluate phenotype prediction. S. E. Brenner, J.
Chevalier, R. Thurman, R. S. Sandstrom, Y. Hibaoui, Moult, CAGI Participants.
M. Garieri, K. Popadin, E. Falconnet, M. Gagnebin,
M. Gehrig, A. Vannier, M. Guipponi, E. Migliavacca, S.
Deutsch, A. Feki, J. Stamatoyannopoulos, Y. Herault,
B. van Steensel, R. Guigo, C. Borel.
4:30 PM–6:30 PM 4:30 PM–6:30 PM (SESSION 38, continued)
Concurrent Platform Session C
38. Rare Mutations, Well Done 181/6:15 Exploring the role of rare and low-
Room 6AB, Upper Level, Convention Center frequency coding variants in adult height using
Moderators: Doug Kiel, Harvard Univ, Boston; Gina an ExomeChip. M. Graff, K. Sin lo, K. Stirrups, C.
Peloso, Mass Gen Hosp, Boston Medina-Gomez, T. Esko, N. L. Heard-Costa, A. E.
Justice, T. W. Winkler, L. Southam, C. Shurmann, J.
174/4:30 The UG2G initiative: A study of disease Czajkowski, Y. Lu, K. L. Young, T. L. Edwards, A. Giri,
susceptibility in 7000 individuals from Uganda C. Lindgren, I. B. Borecki, K. E. North, M. McCarthy,
using whole genome sequencing and genotyping J. N. Hirschhorn, P. Deloukas, F. Rivadeneira, T. M.
approaches. D. Gurdasani, T. Carstensen, S. Fatumo, Frayling, R. J. F. Loos, G. Lettre, for BBMRI, GOT2D,
C. S. Franklin, E. Wheeler, I. Tachmazidou, J. Huang, CHARGE, and GIANT Consortia.
A. Karabarinde, G. Asiki.
175/4:45 Long-range haplotype mapping in

Hispanic/Latinos reveals loci for short stature. G.
Belbin, D. Ruderfer, K. Slivinski, M.C. Yee, J. Jeff, O.
Gottesman, E.A. Stahl, R.J.F. Loos, E.P. Bottinger, E.E.
Kenny.
176/5:00 A haplotype reference panel of over

31,000 individuals and next-generation imputation
methods. S. Das, on behalf of Haplotype Reference
Consortium.
177/5:15 A rare variant local haplotype sharing

method with application to admixed populations. S.
Hooker, G. T. Wang, B. Li, Y. Guan, S. M. Leal.
178/5:30 Rare mutations associating with serum

creatinine and chronic kidney disease. G.
Sveinbjornsson, E. Mikaelsdottir, R. Palsson, O. S.
Indridason, H. Holm, A. Jonasdottir, A. Helgason,
S. Sigurdsson, A. Jonasdottir, A. Sigurdsson, G.
I. Eyjolfsson, O. Sigurdardottir, O. T. Magnusson,
A. Kong, G. Masson, P. Sulem, I. Olafsson, U.
Thorsteinsdottir, D. F. Gudbjartsson, K. Stefansson.
179/5:45 Rare coding variants in collagen genes

increase risk of adolescent idiopathic scoliosis. G.
Haller, D. Alvarado, J. Buchan, K. McCall, P. Yang, C.
Cruchaga, M. Harms, A. Goate, M. Willing, E. Baschal,
N. Miller, C. Wise, M. Dobbs, C. Gurnett.
180/6:00 Rare coding variants are associated with

osteoporotic fracture: A large-scale exome-chip
analysis of 44,130 adult Caucasian men and women
in CHARGE and GEFOS consortia. Y. Hsu, K.

Estrada, P. Leo, A. Teumer, C. Liu, C. Medina-Gomez,
H. Zheng, R. Minster, L.P. Lyytikäinen, R. Pengelly, R.
Cruz Guerrero, L. Oei, M. Claussnitzer, M. Kahonen,
C. Cooper, A. Hannemann, D. Karasik, A. Uitterlinden,
L.A. Cupples, J.A. Riancho Moral, J. Holloway, E.
Duncan, T. Lehtimäki, T. Harris, H. Wallaschofski, B.
Richards, F. Rivadeneira, M. Brown, D. Chasman, D.
Kiel.

4:30 PM–6:30 PM 4:30 PM–6:30 PM (SESSION 39, continued)
39. Cardiovascular Genetics II: Genetic Discovery and 188/6:00 Pathologically different than coronary
Characterization artery disease, myocardial infarction has a minimal
Room 6CF, Upper Level, Convention Center heritable component. B. Horne, S. Knight.
Moderators: Alex Reiner, Univ Washington, Seattle;
Hooman Allayee, Univ Southern California, Los 189/6:15 Is type 2 diabetes a causal risk factor for
Angeles coronary artery disease? Multivariate Mendelian
randomization to test causal relationships among
182/4:30 Increased frequency of de novo copy cardiometabolic traits. R. Do, M. Daly, B. Neale, S.
number variations in congenital heart disease Kathiresan.
by integrative analysis of SNP array and exome
sequence data. J. T. Glessner, A. G. Bick, K. Ito, J.
Homsy, L. Rodriguez-Murillo, M. Fromer, E. Mazaika,
B. Vardarajan, M. Italia, J. Leipzig, S. R. DePalma,
R. Golhar, S. J. Sanders, B. Yamrom, M. Ronemus,
I. Iossifov, A. J. Willsey, M. W. State, J. R. Kaltman,
P. S. White, Y. Shen, D. Warburton, M. Brueckner,
C. Seidman, E. Goldmuntz, B. D. Gelb, R. Lifton, J.
Seidman, W. K. Chung, H. Hakonarson.
183/4:45 Context-specific eQTLs implicate

differential genomic regulatory mechanisms in
obese and lean Finns. A. Ko, R. C. Cantor, E. Nikkola,
M. Alvarez, B. Pasaniuc, K. L. Mohlke, M. Boehnke, F.
S. Collins, J. Kuusisto, M. Laakso, P. Pajukanta.
184/5:00 Use of low read depth whole genome

sequence data to examine the genomic
architecture of commonly measured lipid sub-
fractions: The UK10K study. J. Huang, J. Min,
V. Iotchkova, M. Mangino, A. Gaye, M. Kleber, G.
Malerba, M. Cocca, T. Michela, I. Tachmazidou, H.
Chheda, A. Manning, A. Wood, R. Scott, T. Gaunt,
W. Zhang, F. Rivadeneira, N. Soranzo, N. Timpson,
UK10K Consortium Cohorts Group.
185/5:15 Population-specific imputations identify

a deleterious coding variant in ABCA6 associated
with cholesterol levels: The genome of the
Netherlands. C. M. Van Duijn, E. M. van Leeuwen, M.
A. Swertz, D. I. Boomsma, P. E. Slagboom, G. B. van
Ommen, C. Wijmenga, P. I. W. de Bakker, on behalf of
CHARGE Lipids WG and Genome of the Netherlands
Consortium.
186/5:30 Null alleles at NPC1L1, the therapeutic

target for the LDL-lowering drug ezetimibe,
and protection from coronary heart disease. N.
Stitziel, S. Kathiresan, Myocardial Infarction Genetics
Consortium.
187/5:45 Trans-ethnic genome-wide association

study identifies 15 new genetic loci influencing
blood pressure traits and implicates a role for DNA
methylation: the International Genetics of Blood
Pressure Study. M. Loh, F. Takeuchi, N. Verweij, X.
Wang, W. Zhang, International Genetics of Blood
Pressure Study.
4:30 PM–6:30 PM 4:30 PM–6:30 PM
Concurrent Platform Session C Concurrent Platform Session C
40. Genetics of Complex Neuropsychiatric Disorders 41. Statistical Methods for Population Based Studies
Room 6DE, Upper Level, Convention Center Room 20A, Upper Level, Convention Center
Moderators: Minerva Carrasquillo, Mayo Clin, Moderators: Peter N. Robinson, Charite-
Jacksonville, FL; Tao Wang, Johns Hopkins Univ, Universitatsmedizin, Berlin, Germany; John Witte, UC
Baltimore San Francisco
190/4:30 Vertical transmission of autism spectrum 198/4:30 Leveraging genetic variation from over
disorder. N. Risch, L. Shen, Y. Qian, M. Massolo, L. 55,000 exomes to explore patterns of functional
Croen. constraint on human protein-coding genes. K.
Samocha, M. Lek, D. MacArthur, M. Daly, Exome
191/4:45 Epidemiological and genomic studies Aggregation Consortium.
suggest a significant effect of comorbidity of
intellectual disability towards estimates of autism 199/4:45 Unveiling the genetic architectures of rare
prevalence. S. Girirajan, J. A. Rosenfeld, A. Polyak. coding variants in blood lipids levels via large scale
meta-analysis. D. Liu, on behalf of Global Lipids
192/5:00 Partial deletion of the monoamine oxidase Genetics Consortium.
A (MAOA) gene in a three-generation family with
two severely affected intellectually disabled males 200/5:00 Efficient Bayesian mixed model analysis
and a healthy female carrier. N. de Leeuw, M. I. increases association power in large cohorts. P.
Schouten, R. van Beek, R. Pfundt, M. M. Verbeek, H. Loh, G. Tucker, B. Bulik-Sullivan, B. J. Vilhjalmsson, H.
G. Brunner. K. Finucane, K. Galinsky, D. I. Chasman, B. M. Neale,
B. Berger, N. Patterson, A. L. Price.
193/5:15 A Drosophila model for 16p11.2 deletion
shows differential sensitivity to gene dosage. J. 201/5:15 Recent demography and natural selection
Iyer, L. Pizzo, T. Le, P. Patel, L. Thomas, K. Vadodaria, hamper power of rare variant association tests. L.
S. Girirajan. H. Uricchio, J. S. Witte, R. D. Hernandez.
194/5:30 The discovery of integrated gene 202/5:30 A statistical framework to leverage broad
networks for autism. O. Penn, F. Hormozdiari, E. metabolite data in elucidating the associations
Borenstein, E. E. Eichler, SSC Sequencing Consortium. between genetics and disease. C. Churchhouse,
Slim Initiative in Genomic Medicine for the Americas
195/5:45 Transcriptome sequencing of human (SIGMA) Type 2 Diabetes Consortium.
aging brain tissue uncovers widespread genetic
effects on splicing alternations in Alzheimer’s 203/5:45 Prioritizing functional variants in genetic
disease. T. Raj, J. Xu, C. McCabe, J. A. Schneider, N. association studies. S. Sengupta, X. Wen, G.
Pochet, D. A. Bennett, P. L. De Jager. Abecasis.
196/6:00 Exome array analysis of 30,582 individuals 204/6:00 A practical guide to study design, sample
confirms late-onset Alzheimer’s disease (LOAD) size requirements and statistical analyses methods
risk from common variants and identifies novel for rare variant disease association studies. S. M.
rare LOAD susceptibility variants: The International Leal, G. T. Wang, D. Zhang, Z. He, H. Dai, B. Li.
Genomics of Alzheimer’s Project. A. C. Naj, S. J.
van der Lee, M. Vronskaya, R. Sims, J. Jakobsdottir, 205/6:15 A logistic mixed model approach to
C. van Duijn, L.-S. Wang, P. Amouyel, S. Seshadri, J. obtain a reduced model score for KBAC to
Williams, G. Schellenberg, International Genomics of adjust for population structure and relatedness
Alzheimer’s Project (IGAP). between samples. G. Linse Peterson, J. Grover, B.

Vilhjalmsson, G. Christensen, A. Scherer.
197/6:15 Low-frequency variant imputation
identifies rare variant candidate loci in a genome-
wide association study of late-onset Alzheimer
disease. K. L. Hamilton, B. W. Kunkle, A. C. Naj, W.
R. Perry, A. Partch, O. Valladeres, L. S. Wang, G.
Jun, J. Chung, M. A. Schmidt, G. W. Beecham, E.
R. Martin, R. P. Mayeux, J. L. Haines, L. A. Farrer,
G. D. Schellenberg, Alzheimer’s Disease Genetics
Consortium.

4:30 PM–6:30 PM 4:30 PM–6:30 PM
42. Genome Variation and its Impact on Autism and 43. ELSI Issues in Genetics
Brain Development Room 20D, Upper Level, Convention Center
Room 20BC, Upper Level, Convention Center Moderators: James O’Leary, Genetic Alliance,
Moderators: Sébastien Jacqemont, CHUV, Lausanne, District of Columbia; Jennifer McCormick, Mayo Clin,
Switzerland; Xander Nuttle, Univ Washington, Seattle Rochester
206/4:30 A chromosome imbalance map of the human 214/4:30 The expansion of NIH’s genomic data
genome. M. Zarrei, J. R. MacDonald, R. Ziman, G. sharing policy. E. Luetkemeier, K. Langlais, R. Baker,
Pellecchia, D. J. Stavropoulos, D. Merico, S. W. Scherer. C. Fomous, T. Paine, D. Paltoo.
207/4:45 Detection of known genomic regions and 215/4:45 Data sharing and dbGaP: A survey of
intragenic copy-number changes by an expanded practices and opinions among human geneticists.
exon-targeted array with comprehensive coverage D. Kaufman, J. Bollinger, R. Dvoskin.
of genes implicated in autism spectrum disorders
and intellectual disability. S. W. Cheung, P. Liu, T. 216/5:00 Experience with obtaining informed
Gambin, S. Gu, P. Hixson, C. Shaw, W. Bi, A. Breman, consent for genomic sequencing: Developing
J. Smith, M. Haeri, A. N. Pursley, S. Lalani, C. Bacino, recommendations for best practices. B. A.
A. L. Beaudet, J. R. Lupski, P. Stankiewicz, A. Patel. Bernhardt, A. N. Tomlinson, D. Lautenbach, M. I.
Roche, S. R. Scollon, D. Skinner.
208/5:00 Identification of pathogenic CNVs in a
simplex autism cohort and measurement of effect 217/5:15 Developing a patient facing genome
size on cognitive, adaptive, and social function. sequencing report: Results of key informant
A. E. Hare, D. Moreno De Luca, K. B. Boomer, S. J. interviews. J. L. Williams, A. Fan, H. Stuckey, D.
Sanders, M. W. State, M. Benedetti, A. L. Beaudet, E. Zallen, J. Green, M. Bonhag, L. Feldman, M. Segal, M.
H. Cook, D. M. Martin, D. H. Ledbetter, C. L. Martin. S. Williams.
209/5:15 Autism ten thousand genomes (AUT10K) 218/5:30 Use of My46 to return individual research
project: A roadmap for the complete genetic results to families of children with Joubert
landscape of autism spectrum disorder. S. W. syndrome. S. M. Jamal, A. G. Shankar, J. Dempsey,
Scherer, R. K. C. Yuen, H. Cao, X. Tong, D. Cao, Y. C. Isabella, J. H. Yu, J. Crouch, T. M. Harrell, M. J.
Sun, M. Li, W. Chen, X. Jin, J. L. Howe, C. R. Marshall, Bamshad, D. Doherty, H. K. Tabor.
P. Szatmari, D. Merico, R. H. Ring.
219/5:45 Patient preferences for the return of
210/5:30 The identification of novel autism individual research results derived from pediatric
pathogenicity genes and their associated biobank samples. S. Savage, K. Christensen, N.
phenotypes. H. A. F. Stessman, B. J. O’Roak, E. A. Huntington, E. Weitzman, S. Ziniel, P. Bacon, C.
Boyle, K. T. Witherspoon, B. Martin, C. Lee, L. Vives, Cacioppo, R. Green, I. Holm.
C. Baker, J. Hiatt, D. A. Nickerson, R. Bernier, J.
Shendure, E. E. Eichler. 220/6:00 Weapons, boxes, and credit reports:
Metaphorical language in discussions of receiving
211/5:45 The 16p11.2 locus modulates brain exome and whole genome sequencing results. S.
structures common to autism, schizophrenia C. Nelson, J. Crouch, M. J. Bamshad, H. K. Tabor, J.
and obesity. S. Jacquemont, A. M. Maillard, A. Yu.
Ruef, F. Pizzagalli, E. Migliavacca, L. Hippolyte, S.
Adaszewski, J. Dukart, C. Ferrari, P. Conus, K. Männik, 221/6:15 Clinical integration of next-generation
M. Zazhytska, V. Siffredi, P. Maeder, Z. Kutalik, F. sequencing: A policy analysis. A. L. McGuire, D. J.
Kherif, N. Hadjikhani, J. S. Beckmann, A. Reymond, B. Kaufman, G. H. Javitt, P. A. Deverka, D. Messner, R.
Draganski, 16p11.2 European Consortium. Cook-Deegan, M. A. Curnutte, J. Bollinger, R. Dvoskin,
S. Chandrasekharan, B. J. Evans.
212/6:00 Distinct properties of de novo mutations
from whole genome sequencing of 50 patient-
parent trios. M. Pinelli, B. Tan, M. van de Vorst, R.
Leach, R. Klein, L. E. L. Vissers, H. G. Brunner, J. A.
Veltman, A. Hoischen, C. Gilissen.
213/6:15 Human frontal cortex is enriched for

somatic variations under physiological oxidative
stress compared to the corpus callosum from
same individuals. A. Mukhopadhyay, A. Sharma, R.
Kumari, B. Mehani, A. H. Ansari, B. Varma, R. Rehman,
B. K. Desiraju, U. Mabalirajan, A. Agrawal.
4:30 PM–6:30 PM 4:30 PM–6:30 PM
44. Prenatal, Perinatal, and Reproductive Genetics 45. Advances in Defining the Molecular Mechanisms
Room 28, Upper Level, Convention Center of Mendelian Disorders
Moderators: Lee P. Shulman, Northwestern Univ, Room 29, Upper Level, Convention Center
Chicago; Nancy Rose, Intermountain Med Ctr, Salt Moderators: Megan Dennis, Univ Washington, Seattle;
Lake City Ken Inoue, NCNP, Kodaira, Japan
222/4:30 Discovery and in vivo experimental 230/4:30 Mutations in RPL17 expand the molecular
validation of a novel, non-meiotic pathway basis of Diamond-Blackfan anemia and guide
governing production of spermatozoa and oocytes insights into unique biochemical signatures
in human. A. S. Lee, N. Huang, Y. Yin, R. A. Hess, L. underscoring ribosomopathies. E. E. Davis, D. W.
Ma, P. N. Schlegel, A. M. Lopes, D. T. Carrell, Z. Hu, D. Reid, J. Liang, J. R. Willer, L. Fievet, Z. A. Bhuiyan, A.
F. Conrad. L. Wall, J. S. Beckmann, N. Katsanis, C. V. Nicchitta,
F. Fellmann.
223/4:45 Complex dynamics of meiotic
recombination initiation in laboratory mouse 231/4:45 Digenic inheritance in Alport syndrome.
strains. K. Brick, F. Smagulova, R. D. Camerini-Otero, M. Mencarelli, L. Heidet, H. Storey, M. van Geel, B.
G. Petukhova. Knebelmann, C. Fallerini, L. Dosa, N. Miglietti, M. F.
Antonucci, F. Cetta, A. van den Wijngaard, S. Yau, F.
224/5:00 Bringing homologs together: Sex- and Mari, M. Bruttini, F. Ariani, K. Dahan, B. Smeets, C.
species-specific differences in synapsis. J. Gruhn, Antignac, F. Flinter, A. Renieri.
C. Rubio, P. A. Hunt, T. Hassold.
232/5:00 PCBD1 and diabetes: A novel player with
225/5:15 Targeted resequencing identifies mutant direct implications for therapy. D. Simaite, J. Kofent,
selfish clones within the testis and unifies the M. Gong, F. Rüschendorf, S. Jia, P. Arn, K. Bentler,
concepts of somatic and germline mutation. G. J. C. Ellaway, P. Kühnen, G. F. Hoffmann, N. Blau, F. M.
Maher, E. Giannoulatou, S. J. McGowan, A. Goriely, A. Spagnoli, N. Hübner, K. Raile.
O. M. Wilkie.
233/5:15 The Ankrd11 mutation in the Yoda mouse
226/5:30 Prevalence of pathogenic copy number mirrors the human gene defect and provides new
variants for specific ultrasound detected structural insights into KBG syndrome. K. Walz, D. Cohen, P.
abnormalities using prenatal chromosomal M. Neilsen, J. Foster II, F. Brancati, K. Demir, R. Fisher,
microarray in a multi-center cohort. T. Leung, O. M. Moffat, N. E. Verbeek, K. Bjorgo, A. Lo-Castro, P.
Chan, S.W. Cheung, Y. Kwok, K.W. Choy. Curatolo, G. Novelli, C. Abad, C. Lei, O. Diaz-Horta, J.
I. Young, D. F. Callen, M. Tekin.
227/5:45 Comprehensive genetic analysis of
pregnancy loss by chromosomal microarrays: 234/5:30 Defects in TAPT1, involved in axial skeletal
Outcomes, benefits and challenges. T. Sahoo, patterning, cause a complex lethal recessive
M. Strecker, A. Mehta, N. Dzidic, R. W. Tyson, K. disorder of skeletal development. S. Symoens,
Hovanes. A. Barnes, C. Ghistelinck, F. Malfait, K. Vleminckx,
B. Guillemyn, D. Syx, W. Steyaert, E. Parthoens, M.
228/6:00 Genomic augmentation of newborn Biervliet, G. Gillessen-Kaesbach, J. De Backer, A.
screening. B. Solomon, D. Bodian, R. Iyer, K. Willaert, H. P. Bächinger, A. De Paepe, J. C. Marini, P.
Huddleston, R. Hastak, A. Chu, A. Black, G. Eley, J. J. Coucke.
Vockley, J. Niederhuber.
235/5:45 Mutations in KITLG, encoding KIT ligand,
229/6:15 CETN1 variations cause idiopathic cause unilateral hearing loss. C. Zazo Seco, L. S.
male infertility. D. V. S. Sudhakar, A. Khattri, R. Serrao de Castro, J. W. van Nierop, M. Schraders,
Phanindranath, A. K. Sharma, J. Reshma Devi, M. E. J. Verver, M. Morín, N. Maiwald, M. Wesdrop, H.
Deenadayal, N. J. Gupta, S. Prasad, S. Yobendra, K. Venselaar, L. Spruijt, J. Oostrik, J. Schoots, L. H.
Thangaraj. Hoefsloot, J. H. Jansen, G. Huls, M. M. Van Rossum,
H. P. Kunst, M. A. Moreno-Pelayo, H. Kremer, Baylor-
Hopkins Center for Mendelian Genomics.
236/6:00 Molecular pathogenesis of tuberous

sclerosis complex (TSC) in patients with no
mutation identified in TSC1 or TSC2. M. E. Tyburczy,
Y. Chekaluk, K. Dies, M. Sahin, J. Glass, D. Franz, S.
Camposano, E. Thiele, D. Kwiatkowski.

237/6:15 RAB11FIP1 interacts with the BLOC-1 46. Epigenomics of Normal Populations and Disease
complex to retrieve melanogenic proteins from States
the recycling pathway and a dominant negative Room 30, Upper Level, Convention Center
mutation in RAB11FIP1 causes Hermanksy-Pudlak Moderators: Anshul Kundaje, Stanford Univ, Stanford;
syndrome type 10. A. R. Cullinane, M. A. Merideth, Carolyn Brown, Univ of British Columbia, Vancouver
M. B. Datiles, J. A. Curry, N. F. Hansen, J. K. Teer, J. G.
White, J. C. Mullikin, M. Huizing, W. A. Gahl. 238/4:30 Genetic basis and functional
consequences of chromatin state variability across
individuals. F. Grubert, J. Zaugg, M. Kasowski, O.
Ursu, D. Spacek, A. Martin, L. Steinmetz, A. Kundaje,
M. Snyder.
239/4:45 Integration of 111 reference human

epigenomes helps interpret the molecular basis
of complex traits and disease. M. Kellis, Roadmap
Epigenomics Consortium.
240/5:00 An imprinting map of the human placenta

based on the application of a novel population
genetics approach to RNAseq data. C. T. Watson, O.
Rodriguez, B. Jadhav, N. Azam, D. J. Ho, K. Cheung,
D. Sachs, K. Hao, R. J. Wright, E. E. Schadt, A. J.
Sharp.
241/5:15 Tissue-specific patterns of imprinting

revealed by analysis of monoallelic expression
in human populations. T. Lappalainen, Y. Baran,
E. Tsang, T. Tukiainen, M. A. Rivas, M. Pirinen, M.
Gutierrez-Arcelus, GTEx Consortium, D. G. MacArthur,
S. B. Montgomery, N. A. Zaitlen.
242/5:30 Population-scale and single-cell RNA

sequencing provides insight into X chromosome
inactivation. T. Tukiainen, A. Kirby, T. Lappalainen,
A.-C. Villani, R. Satija, J. Maller, GTEx Project
Consortium, A. Regev, N. Hacohen, D. G. MacArthur.
243/5:45 Cis-methylation quantitative trait loci

mapping of chromosome 15q25.1 in human brain
reveals novel genetic associations with nicotine
dependence. D. B. Hancock, J. C. Wang, N. C.
Gaddis, N. L. Saccone, J. A. Stitzel, A. Goate, L. J.
Bierut, E. O. Johnson.
244/6:00 Joint methylome- and genome-wide

association studies in blood and brain identifies
new disease mechanisms for schizophrenia. E. J.
C. G. Van den Oord, A. Shabalin, G. Kumar, S. Clark, J.
L. McClay, L. Y. Xie, R. Chan, Swedish Schizophrenia
Consort., V. Vladimirov, C. Hultman, P. F. Sullivan, P. K.
E. Magnusson, K. A. Aberg.
245/6:15 Whole genome bisulfite sequencing of

acute lymphoblastic leukemia cells. P. Wahlberg,
A. Lundmark, J. Nordlund, A. Raine, S. Busche, E.
Forestier, T. Pastinen, G. Lönnerholm, A.-C. Syvänen.
Tuesday, October 21 Tuesday, October 21
8:00 AM–8:25 AM 8:30 AM–10:00 AM
47. Plenary Abstracts Featured Presentation III 48. ASHG/ESHG Building Bridges Session:Towards
Hall B1, Ground Level, Convention Center Finding Global Agreement on Topical Discussions in
Moderator: John Novembre, Univ Chicago Genetics: Evolving Uncertainties in Genomic Medicine
Hall B1, Ground Level, Convention Center
246/8:00 Completion of the 1000 Genomes Project: Moderator: Barbara Biesecker, NHGRI/NIH
Results, lessons learned and open questions. G.
Abecasis, 1000 Genomes Project. Introduction: Cynthia Morton, ASHG President
Uncertainty is an inherent part of genomic medicine.

Uncertainty pervades the associations of genes with
phenotypes, the pathogenicity of variants, the role
of modifiers and environment in gene penetrance
and expressivity, the natural history of genetic
diseases, and the efficacy and iatrogenic effects of
treatments for these diseases. Geneticists working
in the laboratory, medical geneticists, and genetic
counselors interpreting penetrance and data on
prevention or treatment confront these uncertainties
daily. The introduction of genome sequencing has
increased the breadth, depth, and dimensions of these
uncertainties to unprecedented levels. How these
uncertainties are characterized, communicated, and
managed by geneticists, health care providers, and
patients is critical to the integrity of the science, the
validity of clinical practice guidelines on the use of
genomic information, and the adequacy of patients’
understanding of the value and limitations of genomic
information.
Perceptions of uncertainty among geneticists

affect how they interpret information returned to
patients. Similarly, perceptions of uncertainty among
practitioners affect how they obtain informed consent
for sequencing, communicate results to patients,
and formulate medical recommendations. Ultimately,
perceptions of uncertainty affect how patients make
informed decisions to undergo sequencing, learn
results, and act on them. As such, there is a critical
need for further research to conceptualize the
varieties of uncertainties in genome sequencing, and
to understand how laboratory scientists, genetics
providers, and patients perceive, respond to, and
manage these uncertainties.
History of uncertainty in genomic medicine. Reed

Pyeritz, Univ. of Pennsylvania
A taxonomy of uncertainty for clinical genomics.

Les Biesecker, NIH
Conceptualizing and communicating uncertainty.

Paul Han, Maine Med. Ctr. Res. Inst.
Uncertainties in consenting to participate in

sequencing studies and receive results. Barbara
Biesecker, NIH
Managing the ambiguity and complexity of genome

sequencing. Aad Tibben, Leiden Univ. Med. Ctr.

8:30 AM–10:00 AM (SESSION 48, continued) 10:30 AM–12:30 PM
Concurrent Platform Session D
This “Building Bridges” session is the second in a 49. Detailing the Parts List Using Genomic Studies
continuing series conducted in conjunction with Hall B1, Ground Level, Convention Center
the European Society of Human Genetics. The first Moderators: Meredith L. Carpenter, Stanford Univ;
session, held in Milan in June 2014, focused on Kristin Ardlie, Broad Inst, Cambridge
incidental findings in WGS and WES.
247/10:30 Inferring the functional effects of non-
synonymous variants using experimental results
from deep mutational scanning. R. J. Hause, V. E.
Gray, J. Shendure, D. M. Fowler.
248/10:45 Context-specific regulatory networks

identify key regulators of complex traits. G. Quon,
D. Marbach, S. Feizi, M. Grzadkowski, M. Kellis.
249/11:00 Allele-specific alternative splicing in

diploid human genomes. N. Raghupathy, K. Choi, S.
C. Munger, G. A. Churchill.
250/11:15 Developing a high-throughput CRISPR-

based assay for saturation mutagenesis of human
genes. M. L. Carpenter, C. Lee, N. Hammond, A. Li, A.
Adams, C. D. Bustamante, M. C. Bassik.
251/11:30 Transcriptome-wide nuclease-mediated

protein footprinting to identify RNA-protein
interaction sites. I. Silverman, F. Li, Q. Zheng, B.
Gregory.
252/11:45 Epigenome imputation leads to higher-

quality datasets and helps improve GWAS
interpretation. J. Ernst, A. K. Sarkar, L. D. Ward, M.
Kellis.
253/12:00 Conservation of mammalian trans-

regulatory circuitry under high cis-regulatory
turnover. A. B. Stergachis, S. Neph, R. Sandstrom, E.
Haugen, A. Reynolds, M. Zhang, R. Byron, T. Canfield,
S. Stelhing-Sun, K. Lee, R. Thurman, S. Vong, D.
Bates, F. Neri, M. Diegel, E. Giste, D. Dunn, S. Hansen,
A. Johnson, P. Sabo, M. Wilken, T. Reh, P. Treuting,
R. Kaul, M. Groudine, M. Bender, E. Borenstein, J.
Stamatoyannopoulos.
254/12:15 A regulatory DNA association study

between autoimmune disease risk and variation
in regulatory regions that are highly unique to
adaptive immune cells. A. Madar, D. Chang, A. J.
Sams, F. Gao, Y. Waldman, C. Van Hout, A. G. Clark,
A. Keinan.
10:30 AM–12:30 PM 10:30 AM–12:30 PM
Concurrent Platform Session D Concurrent Platform Session D
50. Statistical Methods for Multigene, Gene Interaction 51. Neurogenetics: From Gene to Mechanism (II)
and Pathway Analyses Room 6CF, Upper Level, Convention Center
Room 6AB, Upper Level, Convention Center Moderators: Mustafa Tekin, Univ Miami; Alessandra
Moderators: Marcella Devoto, CHOP, Philadelphia; Renieri, Univ Siena, Italy
David Conti, USC, Los Angeles
263/10:30 Mutations in CNTNAP1 and ADCY6 are
255/10:30 Novel kernel methods for detecting responsible for severe arthrogryposis multiplex
gene-environment interaction. K. A. Broadaway, R. congenita with axoglial defects. J. Melki, J.
Duncan, L. M. Almli, K. J. Ressler, B. Bradley, M. P. Maluenda, A. Camus, L. Fontenas, K. Dieterich, F.
Epstein. Nolent, N. Monnier, P. Latour, J. Lunardi, M. Bayes,
PS. Jouk, S. Sternberg, J. Warszawski, I. Gut, M.
256/10:45 Gene-environment dependence Gonzales, M. Tawk, A. Laquérriere.
creates spurious gene-environment interaction. F.
Dudbridge, O. Fletcher. 264/10:45 A mutation in TMTC2 reveals a new
mechanism causing sensorineural hearing loss.
257/11:00 Discovery of gene-environment and M. Olivier, A. Indap, Y. Zhou, J. W. Kent Jr., E. King, C.
epistatic interactions affecting gene expression B. Erbe, R. Cole, J. Littrell, K. Merath, S. Mleziva, J.
in the TwinsUK cohort via association mapping Jensen, L. S. Burg, F. Rüschendorf, J. E. Kerschner,
of variance and monozygotic twin discordance. G. Marth, N. Hübner, H. H. H. Göring, D. F. Friedland,
A. Brown, A. Buil, A. Viñuela, M. Davies, K. Small, T. W.-M. Kwok, C. L. Runge.
Spector, E. Dermitzakis, R. Durbin.
265/11:00 Understanding pathogenesis of
258/11:15 A statistical approach to distinguish lissencephaly with patient-derived induced
genetic pleiotropy from clinical heterogeneity: pluripotent stem cells. M. Bershteyn, A. Kriegstein, A.
Application to autoimmune diseases. B. Han, D. Wynshaw-Boris.
Diogo, E. A. Stahl, S. Eyre, S. Rantapää-Dahlqvist, J.
Martin, T. W. Huizinga, P. K. Gregersen, J. Worthington, 266/11:15 Hypomorphic PCNA mutation underlies
L. Klareskog, P. I. W. de Bakker, S. Raychaudhuri. a novel human DNA repair disorder. E. L. Baple, H.
Chambers, H. E. Cross, H. Fawcett, Y. Nakazawa, B.
259/11:30 Analysis of variants obtained through A. Chioza, G. V. Harlalka, S. Mansour, A. Sreekantan-
whole-genome sequencing provides an alternative Nair, M. A. Patton, M. Muggenthaler, P. Rich, K.
explanation to apparent epistasis. A. R. Wood, M. Wagner, R. Coblentz, C. K. Stein, .J. I. Last, A. M. R.
A. Tuke, M. Nalls, D. Hernandez, S. Bandinelli, A. Taylor, A. P. Jackson, T. Ogi, A. R. Lehmann, C. M.
Singleton, D. Melzer, L. Ferrucci, T. M. Frayling, M. N. Green, A. H. Crosby.
Weedon.
267/11:30 Profound neuropathy target esterase
260/11:45 A joint testing framework uncovers impairment results in Oliver-McFarlane syndrome.
paradoxical SNPs, improves power, and identifies R. B. Hufnagel, G. Arno, N. D. Hein, J. Hersheson,
new sources of missing heritability in association L. A. Krueger, T. J. Jaworek, L. C. Gregory, S. Hull,
studies. B. C. Brown, N. A. Patsopoulos, A. Price, L. V. Plagnol, C. M. Willen, T. M. Morgan, C. A. Prows,
Pachter, N. Zaitlen. R. S. Hegde, S. Riazuddin, G. A. Grabowski, R. J.
Richardson, J. P. Martinez-Barbera, T. Huang, M. T.
261/12:00 Valid permutation testing in the presence Dattani, R. A. Sisk, H. Houlden, J. K. Fink, A. T. Moore,
of polygenic variation. M. Abney. Z. M. Ahmed.
262/12:15 Sparse Bayesian latent factor 268/11:45 A mitochondrial origin for frontotemporal
decompositions for identifying trans-eQTLs. V. dementia and amyotrophic lateral sclerosis through
Hore, J. Marchini. CHCHD10 involvement. V. Paquis, S. Bannwarth, S.
Ait-El-Mkadem, A. Chaussenot, E. C. Genin, S. Lacas-
Gervais, K. Fragaki, L. Berg-Alonso, Y. Kageyama, V.
Serre, D. G. Moore, A. Verschueren, C. Rouzier, I. Le
Ber, G. Augé, C. Cochaud, F. Lespinasse, K. N’Guyen,
A. de Septenville, A. Brice, P. Yu-Wai-Man, H. Sesaki,
J. Pouget.

10:30 am–12:30 pm (SESSION 51, continued) 10:30 AM–12:30 PM
269/12:00 Comprehensive investigation of 52. Contribution of Common and Rare Variation to

CASK and other relevant genes in 41 patients Obesity-Related Traits
with intellectual disability, microcephaly and Room 6DE, Upper Level, Convention Center
disproportionate pontine and cerebellar hypoplasia Moderators: Anne Justice, Univ North Carolina, Chapel
(MICPCH) using next-generation sequencing. S. Hill; Cecilia Lindgren, Broad Inst, Cambridge
Hayashi, N. Okamoto, J. Takanashi, J. Inazawa.
271/10:30 GWAS meta-analysis of ten studies
270/12:15 ABAT is a novel human mitochondrial identifies five novel loci associated with gallstone
DNA depletion syndrome gene linking gamma- disease in European ancestry individuals. A. D.
aminobutyric acid (GABA) catabolism and Joshi, C. Andersson, S. Buch, M. Gala, R. Noordam,
mitochondrial nucleoside metabolism. P. Bonnen, A. Teumer, S. Stender, B. G. Nordestgaard, L. Weng,
A. Besse, P. Wu, F. Bruni, T. Donti, B. Graham, W. A. R. Folsom, P. L. Lutsey, D. Ellinghaus, W. Lieb,
Craigen, R. McFarland, P. Moretti, S. Lalani, K. Scott, C. Shafmayer, B. Boehm, A. Tybjærg-Hansen, U.
R. Taylor. Völker, H. Völzke, L. Rose, P. E. Weeke, D. M. Roden,
J. C. Denny, W. Tang, B. H. Stricker, J. Hampe, D. I.
Chasman, A. D. Johnson, A. T. Chan.
272/10:45 Association analyses of 100,720

individuals reveal new loci associated with body
fat percentage providing new insights in related
cardiometabolic traits. Y. Lu, F. Day, S. Gustafsson, T.
Kilpeläinen, R. Loos, on behalf of the Genetics of Body
Fat Consortium.
273/11:00 Genome-wide analysis in Africans

provides novel insight into the genetic basis of
the metabolic syndrome. F. Tekola-Ayele, A. P.
Doumatey, G. Chen, D. Shriner, A. R. Bentley, J. Zhou,
A. Adeyemo, C. N. Rotimi.
274/11:15 Contribution of low-frequency variants

to variation in body mass index. V. Turcot, Y. Lu,
J. Czajkowski, H. M. Highland, N. G. D. Masca, A.
Giri, T. L. Edwards, T. Esko, M. Graff, A. E. Justice,
C. Medina-Gomez, C. Schurmann, R. A. Scott, K. Sin
Lo, S. S. Sivapalaratnam, L. Southam, K. Stirrups, T.
W. Winkler, H. Yaghootkar, K. L. Young, A. L. Cupples,
T. M. Frayling, J. N. Hirschhorn, G. Lettre, C. M.
Lindgren, K. E. North, I. B. Borecki, R. J. F. Loos, for
BBMRI, GOT2D, CHARGE, and GIANT Consortia.
275/11:30 Genome-wide identification of novel

genetic variants associated with erythrocyte
membrane fatty acids. A. E. Locke, A. U. Jackson, A.
Stancáková, Y. Wu, T. M. Teslovich, C. Fuchsberger,
N. Narisu, P. Chines, R. Welch, H. M. Stringham, X. L.
Sim, J. Huyghe, M. Civelek, N. K. Saleem, A. He, C.
Tilford, P. Gargalovic, T. Kirchgessner, A. J. Lusis, K.
Mohlke, M. Boehnke, M. Laakso.
276/11:45 Filtering for genomic nonsense to find

biological significance: SLC13A1 nonsense variants
enriched in a founder population are associated
with reduced serum sulfate and increased
aspartate aminotransferase levels. C. G. Perry, J. A.
Perry, J. R. O’Connell, L. M. Yerges-Armstrong, A. R.
Shuldiner.
277/12:00 Integrating metabolite, BMI and genetic 53. The Dynamic Genome: Structural and Somatic
data in phenotypic extremes, drawn from a Variation
population of 50,000 samples, to assess causality Room 20A, Upper Level, Convention Center
of metabolite levels in obesity. T. Esko, A. Metspalu, Moderators: Alexander Hoischen, Radboud Univ,
C. Clish, J. N. Hirschhorn. Nijmegen, Netherlands; Santhosh Girirajan, Penn
State, University Park
278/12:15 Systems genetics analyses of human
adipose tissue gene expression identify cis and 279/10:30 Origin, frequency and functional impact
trans regulatory networks for cardio-metabolic of de novo structural changes in the human
traits. M. Civelek, Y. Wu, C. Pan, A. He, C. Tilford, N. genome. K. Ye, W. Kloosterman, L. C. Francioli,
K. Saleem, C. Fuchsberger, A. Locke, H. M. Stringham, F. Hormozdiari, T. Marschall, J. Y. Hehir-Kwa, A.
A. U. Jackson, N. Narisu, P. S. Chines, Y. Zhao, P. Abdellaoui, E. W. Lameijer, M. H. Moed, V. Koval, I.
S. Gargalovic, J. Kuusisto, P. Pajukanta, K. Hao, X. Renkens, M. J. van Roosmalen, P. Arp, L. Karssen, B.
Yang, T. G. Kirchgessner, F. S. Collins, M. Boehnke, M. P. Coe, R. E. Handsaker, E. Cuppen, D. T. Thung, M.
Laakso, K. L. Mohlke, A. J. Lusis. C. Wendl, A. Uitterlinden, C. M. van Duijn, M. Swertz,
C. Wijmenga, G. van Ommen, P. E. Slagboom, D. I.
Boomsma, A. Schonhuth, E. E. Eichler, P. I. W. de
Bakker, V. Guryev.
280/10:45 Parental somatic mosaicism contributes

an under-recognized source of potentially
recurrent new mutations. I. M. Campbell, B. Yuan,
C. Robberecht, R. Pfundt, P. Szafranski, M. M.
McEntagart, S. C. S. Nagamani, A. Erez, M. Bartnik, B.
Wisniowiecka-Kowalnik, K. S. Plunkett, A. N. Pursley,
S. H. L. Kang, W. Bi, S. R. Lalani, C. A. Bacino, M.
Vast, K. Marks, M. Patton, P. Olofsson, A. Patel, J. A.
Veltman, S. W. Cheung, C. A. Shaw, L. E. L. M. Vissers,
J. R. Vermeesch, J. R. Lupski, P. Stankiewicz.
281/11:00 Analysis of the genetic variation and age

effects on gene expression using RNA-seq data
from multiple tissues. A. Viñuela, A. A. Brown, A.
Buil, M. N. Davies, P. Tsai, J. T. Bell, K. S. Small, E. T.
Dermitzakis, R. Durbin, T. D. Spector.
282/11:15 Dynamics of personal omics profiles

during periods of health, disease, weight gain and
loss. M. Snyder, W. Zhou, B. Piening, K. Kukurba, K.
Contrepois, C. Craig, R. Chen, G. Mias, J. Li-Pook-
Than, S. Mitra, L. Jiang, B. Hanson, B. Leopold,
S. Leopold, B. Cooper, L. Liu, V. Sikora-Wohfield,
A. Butte, H. Tang, E. Sodergren, G. Weinstock, T.
McLaughlin, M. Snyder.
283/11:30 Longitudinal study of whole blood

transcriptomes in a twin cohort. J. Bryois, A. Buil,
P. Ferreira, N. Panoussis, A. Planchon, D. Bielser, A.
Viñuela, K. Small, T. Spector, E. T. Dermitzakis.
284/11:45 High-throughput determination of long

interspersed element-1 integration preferences
in the human genome. D. A. Flasch, A. Macia, T.
Widmann, J. L. García-Pérez, T. E. Wilson, J. V. Moran.

285/12:00 Cryptic splicing adversely affects LINE-1 54. Expanding Clinical Phenotypes
retrotransposition. P. A. Larson, C. R. Beck, J. V. Room 20BC, Upper Level, Convention Center
Moran. Moderators: Ozlem Goker-Alpan, Ctr Clinical Trials,
Fairfax; Mitzi L. Murray, Univ Washington, Seattle
286/12:15 Discovery of a novel retrotransposon
family in the Callithrix jacchus genome. M. K. 287/10:30 Comprehensive phenotypic analysis of
Konkel, B. Ullmer, J. A. Walker, R. Hubley, E. L. 19 individuals with Goltz syndrome (focal dermal
Arceneaux, S. Sanampudi, C. C. Fontenot, A. F. A. hypoplasia). V. Sutton, H. Herce, T. R. Hunt, A. L.
Smit, M. A. Batzer, Common Marmoset Genome Smith, K. J. Motil, A. F. Bree, M. Fete, R. W. Goltz.
Sequencing and Analysis Consortium.
288/10:45 Multiple symmetric lipomatosis – new
aspects of a forgotten syndrome. J. Schreml, A.
Lindner, O. Felthaus, S. Klein, C. Pallouras, S. Schreml,
I. Harsch, T. Meitinger, T. M. Strom, J. Altmüller, S.
Staubach, F. G. Hanisch, H. Thiele, P. Nürnberg, L.
Prantl.
289/11:00 Obstetric and gynecologic health

in patients with xeroderma pigmentosum. M.
Merideth, D. Tamura, J. DiGiovanna, K. Kraemer.
290/11:15 Adams-Oliver syndrome: Refining the

diagnostic phenotype. S. Hassed, S. Li, J. Mulvihill,
S. Palmer.
291/11:30 Alpha-fetoprotein assay on dried blood

spot for hepatoblastoma screening in children
with Beckwith-Wiedemann syndrome and isolated
hemihyperplasia. A. Mussa, V. Pagliardini, C.
Molinatto, G. Baldassarre, A. Corrias, F. Fagioli, M.
Cirillo Silengo, G. B. Ferrero.
292/11:45 Clinical and radiographic study of 93

patients with a molecularly proven non-lethal
type 2 collagen disorder. G. R. Mortier, R. J. A.
J. Nievelstein, E. J. J. Verver, V. Topsakal, P. Van
Dommelen, K. Hoornaert, M. Le Merrer, A. Zankl, M.
E. H. Simon, S. F. Smithson, C. Marcelis, B. Kerr, J.
Clayton-Smith, E. Kinning, S. Mansour, F. Elmslie, L.
Goodwin, A. H. van der Hout, H. E. Veenstra-Knol,
J. C. Herkert, A. M. Lund, R. C. M. Hennekam, A.
Mégarbané, M. M. Lees, L. C. Wilson, A. Male, J.
Hurst, N. V. Knoers, P. Coucke, P. A. Terhal.
293/12:00 Diagnostic criteria for Stickler syndrome

based on comprehensive clinical and molecular
analysis. F. Acke, P. Coucke, O. Vanakker, K.
Hoornaert, I. Dhooge, A. De Paepe, E. De Leenheer, F.
Malfait.
294/12:15 Updated cardiac description in Loeys

Dietz syndrome. G. L. Oswald, E. M. Reynolds, H. C.
Dietz, J. P. Habashi, genTAC Consortium Investigators.
55. Cancer Susceptibility Genes: Identification and 300/11:45 Impact of genetic testing on reducing
Implementation colorectal cancer. D. W. Neklason, H. A. Hanson, C.
Room 20D, Upper Level, Convention Center Schaefer, G. Mineau, M. F. Leppert, R. W. Burt, K. R.
Moderators: Ephrat Levy-Lahad, Shaare Zedek Smith.
Med Ctr, Jerusalem, Israel; Matt Deardorff, CHOP,
Philadelphia 301/12:00 Performance of multi-gene panels for
familial cancer screening in clinical cases: The
295/10:30 Mosaic loss of chromosome Y in blood ColoSeq and BROCA experience. B. H. Shirts, S.
cells is associated with shorter survival and higher Casadei, A. Jacobson, E. Turner, J. F. Tait, M. C. King,
risk of cancer in men. L. A. Forsberg, C. Rasi, N. T. Walsh, C. C. Pritchard.
Malmqvist, H. Davies, S. Pasupulati, G. Pakalapati, J.
Sandgren, T. Diaz de Ståhl, A. Zaghlool, V. Giedraitis, 302/12:15 Unanticipated germline cancer
L. Lannfelt, J. Score, N. C. P. Cross, D. Absher, susceptibility mutations identified by clinical exome
E. Tiensuu Janson, C. Lindgren, A. P. Morris, E. sequencing of sequentially diagnosed pediatric
Ingelsson, L. Lind, J. P. Dumanski. solid tumor patients: The BASIC3 study. S. E. Plon,
S. Scollon, K. Bergstrom, T. Wang, R. A. Kerstein, U.
296/10:45 Genetic heritability of common non- Ramamurthy, D. M. Muzny, S. G. Hilsenbeck, Y. Yang,
Hodgkin lymphoma subtypes. S. I. Berndt, L. M. C. M. Eng, R. A. Gibbs, D. W. Parsons.
Morton, S. S. Wang, L. R. Teras, S. L. Slager, J.
Vijai, K. Smedby, G. M. Ferri, L. Miligi, C. Magnani,
D. Albanes, A. R. Brooks-Wilson, E. Roman, A.
Monnereau, P. Vineis, A. Nieters, B. M. Birmann, G.
G. Giles, M. P. Purdue, B. K. Link, C. M. Vajdic, A.
Zeleniuch-Jacquotte, C. F. Skibola, Y. Zhang, J. R.
Cerhan, Z. Wang, N. Rothman, S. J. Chanock, J.
Sampson, on behalf of NHL GWAS Project.
297/11:00 A genome-wide scan identifies NFIB as

important for metastasis in osteosarcoma patients.
L. Mirabello, R. Koster, L. Spector, O. A. Panagiotou, P.
S. Meltzer, B. Moriarty, D. Largaespada, N. Pankratz,
J. M. Gastier-Foster, R. Gorlick, C. Khanna, A. M.
Flanagan, R. Tirabosco, I. L. Andrulis, N. Gokgoz,
J. S. Wunder, A. Patiño-Garcia, F. Lecanda, L.
Sierrasesúmaga, S. R. C. de Toledo, A. S. Petrilli, M.
Serra, C. Hattinger, P. Picci, S. Wacholder, L. Helman,
M. Yeager, R. N. Hoover, S. J. Chanock, S. A. Savage.
298/11:15 Enrichment of colorectal cancer

associations in functional regions: Insight for
combining ENCODE and Roadmap Epigenomics
data in the analysis of whole genome sequencing-
imputed GWAS. S. Rosse, P. Auer, T. Harriason,
C. Carlson, C. Qu, G. R. Abecasis, S. I. Berndt,
S. Bézieau, H. Brenner, G. Casey, A. T. Chan, J.
Chang-Claude, S. Chen, S. Jiao, C. M. Hutter, L. Le

Marchand, S. M. Leal, P. A. Newcomb, M. L. Slattery,
J. Smith, E. White, B. W. Zanke, U. Peters, D. A.
Nickerson, A. Kundaje, L. Hsu.
299/11:30 Frequency and phenotypic spectrum

of germline mutations in POLE and seven other
polymerase genes in patients with colorectal
adenomas and carcinomas. I. Spier, S. Holzapfel, J.
Altmüller, B. Zhao, S. Horpaopan, S. Vogt, S. Chen, M.
Morak, S. Raeder, K. Kayser, D. Stienen, R. Adam, P.
Nürnberg, G. Plotz, E. Holinski-Feder, R. P. Lifton, H.
Thiele, P. Hoffmann, V. Steinke, S. Aretz.

56. Balanced and Unbalanced Chromosomal 310/12:15 De novo DYRK1A point mutations
Rearrangements cause similar phenotypes to those observed
Room 28, Upper Level, Convention Center in microdeletions including 21q22.13: Further
Moderators: Terry J. Hassold, Washington State evidence for DYRK1A’s critical role in brain
Univ, Pullman; Christa L. Martin, Geisinger Hlth Syst, development. J. Ji, N. Dorrani, J. Mann, J. A.
Lewisburg Martinez-Agosto, N. Gallant, J. A. Bernstein, N.
Gomez-Ospina, L. Hudgins, L. Slattery, B. Isidor, E.
303/10:30 An evidence-based dosage sensitivity Obersztyn, B. Wiśniowiecka-Kowalnik, M. Fox, H.
map towards defining the clinical genome. E. Lee, J. Deignan, E. Vilain, S. F. Nelson, W. Grody, F.
Riggs, E. Andersen, B. Hong, H. Kearney, G. Hislop, S. Quintero-Rivera.
Kantarci, D. Pineda-Alvarez, U. Maye, D. McMullan, M.
Serrano, I. Simonic, S. South, M. Speevak, K. Smith,
J. Stavropoulos, K. Wain, S. Aradhya, E. Thorland, C.
Martin, on behalf of Clinical Genome Resource.
304/10:45 Next-generation sequencing of

duplication CNVs reveals that most are tandem and
some disrupt genes at breakpoints. K. Rudd, K. E.
Hermetz, B. Weckselblatt, S. Newman.
305/11:00 Balanced chromosome rearrangements

rapidly annotate the morbid human genome. T.
Kammin, K. E. Wong, B. B. Currall, Z. Ordulu, H.
Brand, V. Pillalamarri, C. Hanscom, I. Blumenthal, J. F.
Gusella, E. C. Liao, M. E. Talkowski, C. C. Morton.
306/11:15 The perplexing prevalence of familial

nested 22q11.2 deletions. D. M. McDonald-McGinn,
L. DiCairano, J. T. Goulet, A. Capezzuto, A. Krajewski,
C. Franconi, M. McNamara, D. E. McGinn, B. S.
Emanuel, E. H. Zackai.
307/11:30 9q33.3q34.11 microdeletion: Delineation

of a new contiguous gene syndrome including the
STXBP1, LMX1B and ENG genes using reverse
phenotyping. S. Nambot, A. Mosca Boidron, A.
Masurel, M. Lefebvre, N. Marle, J. Thevenon, J. De
Montléon, S. Perez Martin, M. Chouchane, E. Sapin,
J. Metaizeau, V. Dulieu, F. Huet, C. Thauvin Robinet, L.
Chatel, V. Abadie, G. Plessis, J. Andrieux, P. Jouk, G.
Billy Lopez, C. Coutton, F. Morice Picard, M. Delrue, C.
Rooryck Thambo, L. Faivre.
308/11:45 Alu-enriched genomic structure

facilitates chromosome 17p13.3 region
susceptibility to diverse and complex pathogenic
copy number variations. S. Gu, B. Yuan, I. M.
Campbell, A. Patel, C. Bacino, P. Stankiewicz, S. W.
Cheung, W. Bi, J. R. Lupski.
309/12:00 Decoding NF1 intragenic copy number

changes. M. Hsiao, A. Piotrowski, T. Callens, C. Fu, L.
Messiaen.
10:30 AM–12:30 PM 10:30 AM–12:30 PM
Concurrent Platform Session D Concurrent Platform Session D
57. Diagnostic Yield of New Genomic Technologies 58. Genetic/Genomic Education and Services Delivery
Moderators: Heidi Rehm, Harvard Med Sch, Moderators: Arti Pandya, Virginia Commonwealth Univ,
Cambridge; Lee Jun C. Wong, Baylor Col Med, Richmond; Kevin Sweet, Ohio State Univ, Columbus
Houston
319/10:30 Clinician CME tailored to individual
311/10:30 Prenatal whole genome SNP array patient’s whole exome results. M. A. Giovanni, M. F.
diagnosis as a first-line test: nature and prevalence Murray.
of abnormal results in phenotypically normal and
abnormal fetuses. F. A. T. de Vries, M. I. Srebniak, L. 320/10:45 Changing the landscape of genomics
C. P. Govaerts, K. E. M. Diderich, R. J. H. Galjaard, A. education through a massive open online course:
M. S. Joosten, A. R. M. Van Opstal. Genomic medicine gets personal. B. R. Haddad,
J. Russel, S. Pennestri, D. Demaree, M. Tan, B. N.
312/10:45 The clinical utility of molecular Peshkin.
genetic testing strategies for the diagnosis of
mitochondrial disorders. R. Bai, D. Arjona, J. 321/11:00 Genome: Unlocking life’s code – a
Higgs, J. Scuffins, J. Juusola, P. Vitazka, J. Neidich, museum exhibition as a model for informal
K. Retterer, K. Parsons, N. Smaoui, E. Haverfield, S. genomics education. V. Bonham, C. Easter, E.
Suchy, G. Richard. Schonman, C. Daulton, R. Wise, B. Hurle, J. Witherly.
313/11:00 Pathogenic variant spectrum in newly 322/11:15 Human Genetics: Medical and Societal
described cancer genes on next-generation cancer Implications. A high school course taught on a
panels. L. Susswein, L. Vincent, R. Klein, J. Booker, M. medical school campus. M. Godfrey, J. E. Bird.
L. Cremona, P. Murphy, K. Hruska.
323/11:30 Whole genome sequencing in a healthy
314/11:15 Exome sequencing for the diagnosis of population: Processes, challenges, and insights.
46,XY disorders of sex development. E. C. Delot, C.S. Richards, P. Jain, M.O. Dorschner, D.A.
R. M. Baxter, V. A. Arboleda, H. Lee, H. Barseghyan, Nickerson, G.P. Jarvik, L.M. Amendola, D.K. Simpson,
M. P. Adam, P. Y. Fechner, R. Bargman, K. Keegan, A. Rope, J. Reiss, K. Kennedy, D.I. Quigley, J. Berg,
S. Travers, S. Schelley, L. Hudgins, R. P. Mathew, H. C. Harding, M. Gilmore, P. Himes, B. Wilfond, K.A.B.
J. Stalker, R. Zori, O. K. Gordon, L. Ramos-Platt, A. Goddard, on behalf of NextGen Project Team.
Eskin, S. F. Nelson, E. Vilain.
324/11:45 Patient perceptions about the utility
315/11:30 Clinical exomes for hearing loss: of family history review during whole genome
Surprising diagnoses and better yields. L. H. sequencing: Initial findings from the MedSeq
Hoefsloot, I. Feenstra, I. J. de Wijs, M. H. Siers, H. Study. K. D. Christensen, P. J. Lupo, J. O. Robinson,
P. M. Kunst, R. J. Admiraal, R. J. E. Pennings, H. J. Blumenthal-Barby, J. L. Vassy, L. S. Lehmann, P.
Scheffer, H. Kremer, H. G. Yntema. A. Ubel, J. S. Roberts, R. C. Green, A. L. McGuire,
MedSeq Study Team.
316/11:45 De novo mutations identified in clinical
whole exome sequencing. S. Pan, F. Xia, D. Muzny, 325/12:00 Hereditary cancer communication with
S. Plon, J. Lupski, A. Beaudet, R. Gibbs, C. Eng, Y. underserved patients. G. Joseph, C. Guerra.
Yang.
326/12:15 Cost effectiveness of adding genes to
317/12:00 Frequency of “ACMG-56” variants in next-generation sequencing panels for evaluation
whole genomes of healthy elderly. L. Ariniello, C. S. of colorectal cancer and polyposis syndromes. C.
Bloss, G. Erickson, P. Pham, D. Boeldt, O. Libiger, N. J. Gallego, B. S. Shirts, C. C. Pritchard, G. P. Jarvik, D.
Schork, E. Topol, A. Van Zeeland, A. Torkamani. L. Veenstra.
318/12:15 Exploring the diagnostic yield of whole

exome sequencing in a broad range of genetic
conditions: The first 200 cases in the NCGENES
study. N. T. Strande, C. Bizon, J. K. Booker, K.
R. Crooks, A. K. M. Foreman, G. T. Haskell, M. A.
Hayden, K. Lee, M. Lu, L. Milko, J. M. O’Daniel, P.
Owen, B. C. Powell, C. Skrzynia, C. R. Tilley, A. Treece,
D. Young, K. C. Wilhelmsen, K. E. Weck, J. S. Berg, J.
P. Evans.

4:30 PM–6:30 PM 4:30 PM–6:30 PM
Concurrent Platform Session E Concurrent Platform Session E
59. We Have the Technology: Next-Generation Genomic 60. Hereditary Breast-Ovarian Cancer
Methods Room 6AB, Upper Level, Convention Center
Hall B1, Ground Level, Convention Center Moderators: Tom Walsh, Univ Washington, Seattle;
Moderators: Melissa Gymrek, MIT, Cambridge; Jay Sam Hanash, Univ Texas MD Anderson Cancer Ctr.,
Shendure, Univ Washington, Seattle Houston
327/4:30 Whole-genome single-cell haplotyping, 335/4:30 Constitutional BRCA1 methylation is a

a generic method for preimplantation genetic major predisposition factor for high-grade serous
diagnosis. M. Zamani Esteki, E. Dimitriadou, L. ovarian cancer. A. Dobrovic, T. Mikeska, K. Alsop, G.
Mateiu, C. Melotte, N. Van der Aa, P. Kumar, R. Das, K. V. Zapparoli, I. L. Candiloro, J. George, G. Mitchell, D.
Theunis, J. Cheng, E. Legius, Y. Moreau, S. Debrock, Bowtell, Australian Ovarian Cancer Study.
T. D’Hooghe, P. Verdyck, M. De Rycke, K. Sermon, J.
R. Vermeesch, T. Voet. 336/4:45 Candidate causal variants from three
independent genetic signals at the 5q11.2 breast
328/4:45 Targeted locus amplification for cancer risk locus regulate MAP3K1. D. M. Glubb, K.
hypothesis neutral next-generation sequencing and A. Pooley, K. Michailidou, M. J. Maranian, K. B. Meyer,
haplotyping of selected genomic loci. M. J. van Min, J. A. Betts, K. M. Hillman, S. Kaufmann, G. Chenevix-
P. J. P. de Vree, W. de Laat, E. de Wit, M. Yilmaz, M. Trench, D. F. Easton, A. M. Dunning, S. L. Edwards, J.
van de Heijning, P. Klous, P. ter Brugge, J. Jonkers, J. D. French, Breast Cancer Association Consortium.
Foekens, J. Martens, H. K. Ploos van Amstel, P. P. Eijk,
D. Sie, B. Ylstra, M. Ligtenberg, M. F. van Dooren, L. J. 337/5:00 A profile of inherited predisposition to
C. M. van Zutven, E. Splinter, S. Verbeek, K. Willems breast cancer among Nigerian women. Y. Zheng,
van Dijk, M. Cornelissen, A. T. Das, B. Berkhout, B. T. Walsh, F. Yoshimatsu, M. Lee, S. Gulsuner, S.
Sikkema Radatz, E. van den Berg, P. van der Vlies, Casadei, A. Rodriguez, T. Ogundiran, C. Babalola, O.
Y. Wan, J. T. den Dunnen, M. Lamkanfi, Hubrecht Ojengbede, D. Sighoko, R. Madduri, M.-C. King, O.
Institute. Olopade.
329/5:00 Saturation genome editing by multiplex 338/5:15 Estimates for inherited mutations in breast
homologous donor repair. G. M. Findlay, E. A. Boyle, cancer susceptibility genes among triple-negative
R. J. Hause, J. Klein, J. Shendure. breast cancer patients. F. Couch, S. N. Hart, P.
Sharma, A. Ewart Toland, X. Wang, P. Miron, J. E.
330/5:15 Metagenomic deconvolution and species Olson, A. Godwin, V. S. Pankratz, C. Olswold, M. W.
discovery in microbiomes using contact probability Beckmann, W. Janni, B. Rack, A. Ekici, D. J. Slamon, I.
maps. J. N. Burton, I. Liachko, M. J. Dunham, J. Konstantopoulou, F. Fostira, G. Fountzilas, L. Pelttari,
Shendure. S. Yao, J. Garber, A. Cox, H. Brauch, C. Ambrosone,
H. Nevanlinna, D. Yannoukakos, S. L. Slager, C. M.
331/5:30 Deep whole-genome sequencing based Vachon, D. M. Eccles, P. A. Fasching.
analysis of mosaic transposable mobile element
insertions in adult human tissue. X. Zhu, A. Fiston- 339/5:30 Inherited mutations in ovarian cancer
Lavier, D. Petrov, M. Snyder, D. Levinson, A. Urban. - PALB2 and BARD1 are likely ovarian cancer
susceptibility genes. B. Norquist, M. I. Harrell, M.
332/5:45 Increased complexity of the human F. Brady, T. Walsh, M. K. Lee, S. Gulsuner, Q. Yi, S.
genome revealed by single-molecule sequencing. Casadei, S. Bernards, S. A. Davidson, R. S. Mannel, P.
M. J. P. Chaisson, J. Huddleston, P. H. Sudmant, A. DiSilvestro, M. C. King, M. J. Birrer, E. M. Swisher.
M. Malig, F. Hormozdiari, U. Surti, R. Wilson, M.
Hunkapiller, J. Korlach, E. E. Eichler. 340/5:45 Implementing PALB2 gene testing in
breast and ovarian cancer patients in UK. N.
333/6:00 In situ genome-wide expression profiling Rahman, E. Ruark, S. Seal, A. Renwick, E. Ramsay,
of individual cell types. C. Kodira, A. Sood, L. S. Powell, M. Warren-Perry, H. Hanson, C. Lord, C.
Newberg, A. Miller, F. Ginty, E. McDonough, Y. Sui, A. Turnbull.
Bordwell, Q. Li, S. Kaanumalle, K. Desai, Z. Pang, E.
Brogi, S. Larson, I. Mellinghoff. 341/6:00 Functional variant assays for predicting
breast cancer risks of genetic variants in the DNA
334/6:15 Whole-genome sequencing characterizes double-stranded break repair pathway. H. Ostrer, A.
multiple mutational mechanisms resulting from Pearlman, K. Upadhyay, Y. Shao, J. Loke.
off-target effects of CRISPR-Cas9 and TALEN
treatments in human embryonic stem cells. R. L.
Collins, A. Veres, H. Brand, A. Ragavendran, S. Erdin,
Q. Ding, B. S. Gosis, K. Musunuru, M. E. Talkowski.
Concurrent Platform Session E
342/6:15 Genome-wide association study of 61. Genomic Studies of Schizophrenia and Bipolar
progression-free survival in ovarian cancer patients Disorder
treated with carboplatin and paclitaxel identifies Room 6CF, Upper Level, Convention Center
an enhancer that regulates three nearby genes. Moderators: Michael Epstein, Emory Univ, Altanta;
G. Chenevix-Trench, Y. Lu, J. Beesley, K. Hillman, Laura Scott, Univ Michigan, Ann Arbor
S. Edwards, S. Johnatty, S. Macgregor, B. Gao, J.
French, A. deFazio, on behalf of Ovarian Cancer 343/4:30 Emerging patterns of schizophrenia risk
Association Consortium. conferred by de novo mutation. D. Howrigan, B.
Neale, K. Samocha, J. Moran, K. Chambert, S. Rose,
M. Fromer, S. Chandler, N. Laird, H. G. Hwu, W. J.
Chen, S. Faraone, S. Glatt, M. Tsuang, S. McCarroll.
344/4:45 Discoveries from a genome-wide analysis

of CNVs in the PGC study of schizophrenia. J.
Sebat, C. R. Marshall, D. Howrigan, D. Merico, B.
Thiruvahindrapuram, W. Wu, M. O’Donovan, S.
Scherer, B. Neale, Schizophrenia and CNV analysis
groups of Psychiatric Genomics Consortium.
345/5:00 A functional role for non-coding variation

in schizophrenia genome-wide significant loci.
P. Sklar, A. Mitchell, G. Voloudakis, V. Pothula, E.
Stahl, A. Georgakopoulos, D. Ruderfer, J. Fullard, A.
Charney, Y. Okada, K. Siminovitch, J. Worthington,
L. Padyukov, L. Klareskog, P. Gregersen, R. Plenge,
S. Raychaudhuri, M. Fromer, S. Purcell, K. Brennand,
M. Fromer, N. Robakis, E. Schadt, S. Akbarian, P.
Roussos.
346/5:15 Comprehensive, integrative and

hypothesis-free pathway analysis of genome-wide
association data highlights synaptic transmission,
dendritic spines and the post-synaptic density in
schizophrenia. T. H. Pers, S. Ripke, L. Franke, J. N.
Hirschhorn, for the Psychiatric Genetics Consortium.
347/5:30 Integrating network analyses and genetics

with large-scale RNA-sequencing of schizophrenia
brains. M. Fromer, for CommonMind Consortium,
Swedish Schizophrenia Consortium, Schizophrenia
Working Group of PGC.
348/5:45 RNAseq transcriptome study implicates

immune-related genes in schizophrenia. A. R.
Sanders, E. I. Drigalenko, J. Duan, W. Moy, J. Freda,
MGS Collaboration, H. H. H. Göring, P. V. Gejman.
349/6:00 A rare regulatory noncoding variant

in GWAS-implicated MIR137/MIR2682 locus
potentially confers risk to both schizophrenia
and bipolar disorder. J. Duan, J. Shi, A. Fiorentino,
C. Leites, J. Chen, W. Moy, B. Alexandrov, D. He,
J. Freda, A. Bishop, N. L. O’Brien, MGS, GPC, X.
Chen, A. Usheva, A. McQuillin, A. R. Sanders, H. M.
D. Gurling, M. T. Pato, K. S. Kendler, C. N. Pato, P. V.
Gejman.

350/6:15 GWAS of bipolar 1 disorder in a multi- 62. From Association to Function in Complex Traits
ethnic cohort of 72,823 identifies four novel loci. C. Room 6DE, Upper Level, Convention Center
Schaefer, L. Shen, K. Kearney, M. McCormick, S. P. Moderators: Kyle Gaulton, Univ Oxford, UK; Nadav
Hamilton, L. A. McInnes, V. Reus, J. Wall, P.-Y. Kwok, Ahituv, UC San Francisco
M. Kvale, T. J. Hoffmann, E. Jorgenson, N. Risch.
351/4:30 Partitioning heritability by functional
category using summary statistics. H. Finucane,
B. Bulik-Sullivan, A. Gusev, G. Trynka, P. Loh, H. Xu,
C. Zang, S. Ripke, S. Purcell, M. Daly, E. Stahl, S.
Raychaudhuri, S. Lindstrom, N. Patterson, B. Neale,
A. Price, Schizophrenia Working Group of Psychiatric
Genetics Consortium.
352/4:45 Identification of multiple regulatory

variants at the GALNT2 human high-density
lipoprotein cholesterol locus. T. S. Roman, A.
F. Marvelle, M. P. Fogarty, S. Vadlamudi, M. L.
Buchkovich, J. R. Huyghe, C. Fuchsberger, A. U.
Jackson, K. J. Gaulton, A. J. Gonzalez, P. Soininen, A.
J. Kangas, J. Kuusisto, M. Ala-Korpela, M. Laakso, M.
Boehnke, K. L. Mohlke.
353/5:00 A PAX1 enhancer locus increases risk of

idiopathic scoliosis in females. C. Wise, S. Sharma,
D. Londono, W. Eckalbar, X. Gao, I. Kou, A. Takahashi,
M. Matsumoto, J. A. Herring, D. K. Burns, S. Ikegawa,
N. Ahituv, D. Gordon.
354/5:15 Characterization of the type 2 diabetes-

associated KLF14 trans-regulatory network. K.
Small, L. Quaye, A. Hough, M. Todorcevic, A. Mahajan,
M. Horikoshi, A. Buil, A. Vinuela, C. Glastonbury, A.
Brown, J. Bell, A. Gloyn, R. Cox, F. Karpe, M. McCarthy.
355/5:30 mRNA-seq of 278 diverse skeletal muscle

biopsies reveals mechanistic insights about type 2
diabetes genetic risk and identifies disease state
specific eQTLs. J. R. Huyghe, S. C. J. Parker, M. R.
Erdos, H. Koistinen, P. S. Chines, R. Welch, X. Wen, H.
Jiang, N. Narisu, L. Taylor, B. Wolford, L. J. Scott, H.
Stringham, L. Kinnunen, T. Blackwell, A. U. Jackson,
Y. Lee, A. J. Swift, L. Bonnycastle, M. L. Stitzel, R.
M. Watanabe, K. Mohlke, T. Lakka, M. Laakso, J.
Tuomilehto, F. S. Collins, M. Boehnke.
356/5:45 Genetic analyses of hepatic steatosis

GWAS associated loci. E. K. Speliotes, Y. Chen, A.
W. Tai.
357/6:00 FOXO3 regulates fetal hemoglobin levels

in sickle cell anemia. V. Sheehan, Y. Zhang, J.
Crosby, R. Ware, E. Boerwinkle.
358/6:15 Susceptibility to tuberculosis is associated

with the ASAP1 gene that regulates dendritic
cell migration. Y. Luo, J. Curtis, H. L. Zenner, D.
Cuchet-Lourenco, C. Wu, K. Lo, M. Maes, A. Alisaac,
E. Stebbings, J. Z. Liu, O. Ignatyeva, Y. Balabanova,
V. Nikolayevskyy, P. Nürnberg, R. Horstmann, F.
Drobniewski, V. Plagnol, J. C. Barrett, S. Nejentsev.
4:30 PM–6:30 PM 4:30 PM–6:30 PM
63. Therapy for Genetic Disorders 64. Exome Sequencing as Standard of Care in Clinical
Room 20A, Upper Level, Convention Center Genetics
Moderators: Gerald Raymond, Univ Minnesota, Room 20BC, Upper Level, Convention Center
Minneapolis; Michael J. Gambello, Emory Univ Sch Moderators: Livija Medne, CHOP, Philadelpia; Carol
Med, Atlanta Saunders, Children’s Mercy Hosp, Kansas City
359/4:30 Targeting calpains: A therapeutic strategy 367/4:30 Transition from clinically fully validated
for the treatment of TGF␤-mediated mesenchymal panels to medically relevant exome. L. Wong, V. W.
transition and associated pathologies. D. Kim, R. Zhang, E. S. Schmitt, J. Wang.
Gould, J. Butcher, H. Dietz.
368/4:45 How well do whole exome sequencing
360/4:45 Metabolic regulation by the MeCP2/ results correlate with clinical findings? A study of
HDAC3 transcriptional corepressor complex points 89 Mayo Clinic biobank samples. S. Middha, N. M.
to new therapeutic targets in Rett syndrome. S. M. Lindor, S. K. McDonnell, K. J. Johnson, J. E. Olson, E.
Kyle, C. M. Buchovecky, M. J. Justice. D. Wieben, G. Farrugia, J. R. Cerhan, S. N. Thibodeau.
361/5:00 Increasing IKAP expression by mRNA 369/5:00 Clinical whole exome sequencing reveals
splicing modification improves phenotype in a contribution of rare genetic events to undiagnosed
mouse model of familial dysautonomia. E. Morini, P. disease. C. M. Eng, D. Muzny, F. Xia, Z. Niu, R.
Dietrich, M. Salani, F. Urbina, M. Nilbratt, I. Dragatsis, Person, Y. Ding, P. Ward, A. Braxton, M. Wang, C.
S. Slaugenhaupt. Buhay, N. Veeraraghavan, A. Hawes, T. Chiang, M.
Leduc, J. Beuten, J. Zhang, W. He, J. Scull, A. Willis,
362/5:15 Impact of early hormonal therapy on M. Landsverk, W. Craigen, M. Bekeirnia, P. Liu, S. Wen,
the neurobehavioral profile of boys with 47, W. Alcaraz, H. Cui, M. Walkiewicz, M. Bainbridge, E.
XXY (Klinefelter syndrome) at 9 years of age. C. Boerwinkle, A. L. Beaudet, J. R. Lupski, S. E. Plon, R.
Samango-Sprouse, D. C. Gibbs, E. Stapelton, T. A. Gibbs, Y. Yang.
Sadeghin, A. L. Gropman.
370/5:15 Clinical exome sequencing at UCLA:
363/5:30 A causative role for oxytocin in Diagnosis rate, variant spectrum and novel gene
pregnancy-induced aortic dissection in Marfan discoveries. H. Lee, J. L. Deignan, N. Dorrani, S.
syndrome mouse models. J. P. Habashi, E. M. Gallo, Strom, N. Ghahramani, S. Kantarci, F. Quintero-Rivera,
N. Huso, Y. Chen, D. Bedja, D. Huso, H. C. Dietz. K. Das, M. Fox, W. W. Grody, E. Vilain, S. F. Nelson.
364/5:45 Most participants in the agalsidase beta 371/5:30 Medical exome: Towards achieving
phase 3 clinical trial in patients with classic Fabry complete coverage of disease related genes. A.
disease experienced no severe clinical events Santani, K. McDonald, D. Mandelkar, A. Ankala, C. da
during a 10-year follow-up period. D. P. Germain, Silva, Z. Yu, K. Cao, H. Sharma, R. Shakbatyan, M.
J. Charrow, R. J. Desnick, J. T. Ebels, N. Guffon, J. Lebo, B. Funke, M. Hegde.
Kempf, R. H. Lachmann, R. Lemay, G. E. Linthorst, S.
Packman, C. R. Scott, S. Waldek, D. G. Warnock, N. J. 372/5:45 Look before you leap, and list before you
Weinreb, W. R. Wilcox. look: The use of a priori curated gene lists to guide
exome analysis. B. C. Powell, A. K. M. Foreman, J.
365/6:00 ENGAGE: A phase 3, randomized, double M. O’Daniel, K. Lee, L. Boshe, K. R. Crooks, M. Lu, Z.
blind, placebo-controlled, multi-center study to Fan, J. K. Booker, K. E. Weck, J. P. Evans, J. S. Berg.
investigate the efficacy and safety of eliglustat
in adults with Gaucher disease type 1: 18-month 373/6:00 Validation of small-molecule metabolomic
results. M. Balwani, D. Amato, M. Dasouki, G. profiling for the clinical screening of inborn errors
Pastores, S. Packman, S. Assouline, P. Mistry, A. of metabolism. M. J. Miller, A. D. Kennedy, A. D.
Ortega, S. Shankar, M. Solano, J. Angell, L. Ross, J. Eckhart, J. E. Wulff, M. V. Milburn, J. A. Ryals, A. L.
Peterschmitt. Beaudet, Q. Sun, V. R. Sutton, S. H. Elsea.
366/6:15 Effective treatment of mitochondrial 374/6:15 Free the data: EmBase and EmVClass
myopathy by nicotinamide riboside, a vitamin B3. facilitate storage, interpretation, curation, and
N. Khan, M. Auranen, I. Paetau, E. Pirinen, L. Euro, C. sharing of over 11,000 sequence variants identified
Carroll, J. Auwerx, A. Suomalainen. through clinical testing. L. J. H. Bean, S. W. Tinker,
C. da Silva, M. R. Hedge.
Tuesday, October 21
4:30 PM–6:30 PM
65. Beyond the Sequence: Genomic Regulation and 382/6:15 Imputation and subset based association
Disease analysis across different cancer types identifies
Room 20D, Upper Level, Convention Center multiple independent risk loci in the TERT-
Moderators: Stephen Meyn, Hosp for Sick Children, CLPTM1L region on chromosome 5p15.33. Z. Wang,
Toronto; Peter Scacheri, Case Western Reserve Univ, M. Zhang, B. Zhu, H. Parikh, J. Jia, C. C. Chung, J. N.
Cleveland Sampson, J. W. Hoskins, A. Hutchinson, L. Burdette,
L. Mirabello, S. A. Savage, P. Kraft, S. J. Chanock,
375/4:30 The role of TET1-mediated demethylation M. Yeager, M. T. Landi, J. Shi, N. Chatterjee, L. T.
in gene regulation and memory formation. A. J. Amundadottir.
Towers, X.L. Li, A. L. Bey, P. Wang, Y.H. Jiang.
376/4:45 DNA methylation in the central nucleus of

the amygdala contributes to anxious temperament
in young primates. R. S. Alisch, P. Chopra, A. S. Fox,
K. Chen, A. T. J. White, P. H. Roseboom, S. Keles, N.
H. Kalin.
377/5:00 MicroRNA-486 overexpression delays

the disease pathology of muscular dystrophy. M.
S. Alexander, J. C. Casar, N. Motohashi, N. M. Vieira,
I. Eisenberg, J. L. Marshall, M. J. Gasperini, A. Lek,
J. A. Myers, E. A. Estrella, P. B. Kang, F. Shapiro, F.
Rahimov, G. Kawahara, J. J. Widrick, L. M. Kunkel.
378/5:15 Mutations in nuclear envelope change

myogenic epigenomic programs and normal cell
fate. J. Perovanovic, S. Dell”orso, V. Sartorelli, K.
Mamchaoui, V. Mouly, C. Vigouroux, G. Bonne, E. P.
Hoffman.
379/5:30 Aberrant DNA hypermethylation of SDHC:

A novel mechanism of tumor development in
Carney Triad. F. Faucz, F. Haller, E. A. Moskalev,
S. Batthelmeb, S. Wiemann, M. Bieg, G. Assie, J.
Bertherat, I.-M. Schaefer, C. Otto, E. Rattenberry,
E. R. Maher, P. Strobel, M. Werner, J. A. Carney, A.
Hartmann, A. Agamy, C. A. Stratakis.
380/5:45 A screen-informed candidate gene

approach identifies a large human telomere
maintenance network. B. Holohan, W. Wright, J.
Shay.
381/6:00 Association between telomere length

SNPs and five cancer types: A Mendelian
randomization study from the GAME-ON post-
GWAS consortium. C. Zhang, S. Burgess, P. Kraft, S.
Lindstrom, R. Hung, U. Peters, H. Ahsan, T. Sellers, A.
Monteiro, G. Trench, J. Doherty, B. Pierce, on behalf of
CORECT, DRIVE, ELLIPSE, OCAC, and TRICL studies
and GAME-ON Network.
4:30 PM–6:30 PM 4:30 PM–6:30 PM
66. A Clear Vision for Genetic Eye Diseases 67. Autoimmune Genes: Discovery and Function
Moderators: Lucia Sobrin, Harvard Univ, Cambridge; Moderators: Yukinoki Okada, Tokyo Med and Dent
Anand Swaroop, NEI/NIH, Bethesda Univ, Japan; Lisa Barcellos, UC Berkeley
383/4:30 Genome-wide analysis of mitochondrial 391/4:30 A trans-ethnic genome-wide association

single nucleotide polymorphism (mtSNP)- study of 21,483 cases and 97,977 controls identifies
nuclear SNP interaction in age-related macular 27 genetic susceptibility variants for atopic
degeneration. P. J. Persad, M. D. Courtenay, G. dermatitis. L. Paternoster, M. Standl, H. Baurecht,
Wang, P. W. Gay, W. Cade, A. Agarwal, S. G. Schwartz, J. Waage, M. Hotze, J. A. Curtin, K. Bønnelykke, D.
J. L. Kovach, M. A. Brantley, R. J. Sardell, J. N. Cooke Glass, D. A. Hinds, E. Melen, P. Sleiman, B. Feenstra,
Bailey, J. L. Haines, M. A. Pericak-Vance, W. K. Scott. M. Pino-Yanes, H. T. den Dekker, M. Bustamante, I.
Marenholz, B. Jacobsson, A. D. Irvine, A. C. Alves, M.
384/4:45 Unravelling the complex genetics of age- M. Groen-Blokhuis, A. Franke, M. Ferreira, M. Tamari,
related macular degeneration — The International N. Probst-Hensch, K. Williams, D. P. Strachan, S. J.
AMD Genomics Consortium. V. Cipriani, on behalf of Brown, J. Heinrich, D. M. Evans, S. Weidinger, on
International A M D Genomics Consortium. behalf of EAGLE Eczema Consortium.
385/5:00 Whole-genome sequencing study 392/4:45 Trans-ancestral ImmunoChip: SLE risk

of ~6,000 samples for age-related macular loci show enrichment for NK cytotoxicity and cell
degeneration. A. Kwong, X. Zhan, L. G. Fritsche, adhesion pathways. D. S. Cunninghame Graham, J.
J. Bragg-Gresham, K. E. Branham, M. Othman, A. A. Kelly, C. D. Langefeld, R. R. Graham, P. M. Gaffney,
Boleda, L. Gieser, R. Ratnapriya, D. Stambolian, E. Y. T. J. Vyse, SLE ImmunoChip Consortium.
Chew, A. Swaroop, G. Abecasis.
393/5:00 Eight amino acid positions in five HLA
386/5:15 Examining the casual role of central class I and II genes explain the MHC association
corneal thickness in glaucoma: A Mendelian to type 1 diabetes risk. X. Hu, B. Han, S. Onengut-
randomization approach. C. Y. Cheng, T. H. Tham, J. Gumuscu, W. Chen, A. J. Deutsche, T. L. Lenz, P. I. W.
M. Liao, T. Y. Wong, T. Aung. de Bakker, S. S. Rich, S. Raychaudhuri.
387/5:30 The role of rare TIMP3 mutations in 394/5:15 Increased risk of rheumatoid arthritis
age-related macular degeneration. L. G. Fritsche, among shared epitope-negative mothers with
International AMD Genomics Consortium. shared epitope-positive children: Results from
the mother-child immunogenetic study in
388/5:45 High-throughput screening of 51 known autoimmunity. G. I. Cruz, L. A. Criswell, X. Shao, H.
causative genes in families with congenital Quach, J. A. Noble, N. A. Patsopoulos, M. P. Busch, L.
cataract. S. Javadiyan, J. Craig, S. Sharma, K. Lower, F. Barcellos.
K. Burdon.
395/5:30 Steroid-responsive genes play a major
389/6:00 Primary cilia mediate retinal development role in the genetic basis of sexual dimorphism in
and photoreceptor homeostasis. C. Carter, A. complex human disease. L. A. Weiss, K. M. Tsang, B.
Drack, Q. Zhang, N. Nuangchamnong, C. Searby, V. C. Adviento, K. A. Aldinger, H. Lee, K. Kim, R. J. Schmidt,
Sheffield. S. F. Nelson, P. Levitt, D. G. Amaral, I. Hertz-Picciotto,
C. Ladd-Acosta, M. D. Fallin, L. A. Croen, N. Zaitlen.
390/6:15 Using zebrafish to assess novel
therapeutics and model the eye disease of cblC 396/5:45 Functional characterization of a multiple
disease. N. P. Achilly, J. L. Sloan, K. Bishop, M. S. sclerosis associated variant in IL7Ra. S. G. Gregory,
Jones, R. Sood, C. P. Venditti. G. Galarza-Muñoz, F. B. Briggs, L. Bergamaschi, S.
Arvai, X. Shao, L. F. Barcellos, M. A. Garcia-Blanco.
397/6:00 UBE2L3 polymorphism amplifies NF-

kB activation and promotes B cell development
linking linear ubiquitination to multiple autoimmune
diseases. M. J. Lewis, S. Vyse, A. M. Shields, S.
Boeltz, D. Leirer, P. A. Gordon, T. D. Spector, P. J.
Lehner, H. Walczak, T. J. Vyse.

398/6:15 A recombination allele of the lipase gene 68. Pharmacogenetics: From Association to Action
CEL and its pseudogene CELP encodes a hybrid Room 30, Upper Level, Convention Center
protein and is a genetic risk factor for chronic Moderators: Bill Nyhan, UC San Diego; Cornelia Van
pancreatitis. K. Fjeld, J. Rosendahl, J. M. Chen, D. Duijn, Erasmus MC, Rotterdam, Netherlands
Lasher, M. Cnop, B. B. Johansson, M. Ringdal, E.
Masson, J. Mayerle, J. Mössner, C. Ruffert, S. Steine, 399/4:30 Clozapine-induced agranulocytosis/
E. Tjora, J. Torsvik, C. Ferec, F. U. Weiss, H. Witt, M. granulocytopenia is associated with rare HLA-
M. Lerch, P. R. Njølstad, S. Johansson, A. Molven. DQB1 and HLA-B alleles. J. I. Goldstein, L. F.
Jarskog, I. Cascorbi, M. Dettling, A. K. Malhotra,
J. Nielsen, D. Rujescu, T. Werge, D. L. Levy, R. C.
Josiassen, J. L. Kennedy, J. A. Lieberman, M. J. Daly,
P. F. Sullivan, Clozapine Induced Agranulocytosis
Consortium.
400/4:45 New susceptibility gene IKZF1 for cold

medicine-related Stevens-Johnson syndrome/
toxic epidermal necrolysis with severe mucosal
involvement. M. Ueta, H. Sawai, C. Sotozono, Y.
Hitomi, N. Kaniwa, M.K. Kim, K.Y. Seo, K.C. Yoon, C.K.
Joo, C. Kannabiran, T.H. Wakamatsu, V. Sangwan, V.
Rathi, S. Basu, T. Ozeki, T. Mushiroda, E. Sugiyama, K.
Maekawa, R. Nakamura, M. Aihara, K. Matsunaga, A.
Sekine, J.A.P. Gomes, J. Hamuro, Y. Saito, M. Kubo, S.
Kinoshita, K. Tokunaga.
401/5:00 Prospective participant selection and

ranking to maximize actionable PGx variants and
discovery in the eMERGE Network. D. Crosslin,
A. Gordon, P. Robertson, D. Hanna, D. Carrell, A.
Scrol, I. Kullo, M. de Andrade, E. Baldwin, J. Grafton,
K. Doheny, P. Crane, R. Li, S. Stallings, S. Verma,
J. Wallace, M. Ritchie, M. Dorschner, E. Larson, D.
Nickerson, G. Jarvik, electronic Medical Records and
Genomics (eMERGE) Network.
402/5:15 Real-time pharmacogenomics: Genetic

factors impacting phenylephrine response during
surgery. J. M. Jeff, T. Joesph, K. Slivinski, M. Yee,
A. Owusu Obeng, S. B. Ellis, E. P. Bottinger, O.
Gottesman, M. A. Levin, E. E. Kenny.
403/5:30 PGRN Network-wide Project:

Transcriptome analysis of pharmacogenes in
human tissues. C. E. French, A. Chhibber, E. R.
Gamazon, S. W. Yee, X. Qin, E. Theusch, A. Webb, S.
T. Weiss, M. W. Medina, E. G. Schuetz, A. L. George,
R. M. Krauss, C. Q. Simmons, S. E. Scherer, N. J. Cox,
K. M. Giacomini, S. E. Brenner.
404/5:45 Transcriptome prediction in relevant

tissues reveals mechanisms of drug-induced
peripheral neuropathy. H. E. Wheeler, B. P. Schneider,
D. L. Kroetz, K. Owzar, D. L. Hertz, H. L. McLeod, E. R.
Gamazon, K. P. Shah, K. D. Miller, G. W. Sledge, N. J.
Cox, M. E. Dolan, H. K. Im.
Tuesday, October 21
4:30 PM–6:30 PM (SESSION 68, continued)
405/6:00 Evidence for extensive pleiotropy among

pharmacogenes. M. T. Oetjens, W. S. Bush, J. C.
Denny, K. A. Birdwell, H. H. Dilks, S. A. Pendergrass,
M. D. Ritchie, D. C. Crawford.
406/6:15 Identifying risk variants for

dihydropyrimidine dehydrogenase deficiency using
an isogenic system of expression. S. M. Offer, S.
Shrestha, C. R. Jerde, R. B. Diasio.
Wednesday, October 22 Wednesday, October 22

9:00 AM–11:00 AM 9:00 AM–11:00 AM
Concurrent Invited Session II Concurrent Invited Session II
69. Circulating Cell-Free Nucleic Acids as Clinical 70. Genomic Medicine Case Conference: Illustrative
Biomarkers Clinical Examples
Room 6AB, Upper Level, Convention Center Room 20D, Upper Level, Convention Center
Moderators: Glenn E. Palomaki, Women & Infants Moderators: Ian Krantz, Children’s Hosp, Philadelphia;
Hosp/Alpert Med Sch at Brown Univ, Providence; YMD Gail P. Jarvik, Univ Washington, Seattle
Lo, Chinese Univ Hong Kong
The advent of high-throughput and genomic medicine
Circulating cell-free nucleic acids were reported in has abruptly changed clinical practice. We hope to
1948, and by 1996 it was clear that cancer patients provide an educational session that uses a case
had tumor-specific DNA in circulation. In 1997, cell- conference style to outline issues relevant to the
free fetal DNA was identified in maternal circulation, clinical application of genomics. Each speaker
and subsequent studies have found circulating RNA as will present 1-3 informative cases. Taken together,
well as micro RNA. With the advent of next-generation these cases will demonstrate facets that include
sequencing, circulating cell-free nucleic acids the challenges of patient education and consent,
(ccfNA) have been explored as clinical biomarkers variant interpretation and annotation, novel variant
for a wide variety of clinical conditions such as fetal detection, incidental findings, incorporation of direct
chromosomal or genetic disorders, cancer diagnosis/ to consumer results, involvement of multiple medical
prognosis, transplantation medicine and coronary specialists to evaluate patients and family members
heart disease. In this session, four disparate methods for manifestations of incidental findings, and other
for testing and interpreting ccfNA biomarkers will be counseling issues. Each speaker’s talk will be limited
presented, for the four clinical conditions listed. to 15-20 minutes of the 30 minute block, to maximize
discussion from the audience and the other speakers.
9:00 A M Sequencing circulating cell-free DNA in The moderator will provide a very brief overview and
maternal plasma to identify Down syndrome. G. E. introduce the speakers.
Palomaki. Women & Infants Hosp/Alpert Med Sch at
Brown Univ, Providence. 9:00 A M Variant interpretation challenges in WGS
cases from the MedSeq Study. H. Rehm. Harvard
9:30 A M Circulating cell-free DNA enables the Univ, Cambridge.
non-invasive diagnosis of rejection and infection in
organ transplantation. I. De Vlaminck. Stanford Univ, 9:30 A M Genomic tests in pediatric patients. C.
Palo Alto. Eng. Baylor Col Med, Houston.
10:00 A M Circulating microRNAs as biomarkers for 10:00 A M Return of “actionable”, uncertain, and
cardiovascular risk. A. Zampetaki. Kings Col London, incidental findings in cancer. L. A. Garraway. Harvard
London, United Kingdom. Med Sch, Broad Inst, Boston.
10:30 A M Genome-wide plasma DNA sequencing 10:30 A M Cases demonstrating counseling issues
as a universal approach for cancer detection. in genomic medicine. L. Amendola. Univ Washington,
Y.M.D. Lo. Chinese Univ Hong Kong. Seattle.
9:00 AM–11:00 AM 9:00 AM–11:00 AM
71. Genomic Variation: Interpreting the Uninterpreted 72. Genetics of Sleep and Circadian Disorders
Room 20A, Upper Level, Convention Center Room 30, Upper Level, Convention Center
Moderator: Douglas M. Fowler, Univ Washington, Moderators: Juliane Winkelmann, Stanford Univ, Palo
Seattle Alto; Emmanuel Mignot, Stanford Ctr Sleep Sci and
Med, Palo Alto
The advent of high-throughput DNA sequencing has
revealed an immense amount of variation in human This symposium will be focused on the genetics of
genomes. The use of exome and genome sequencing sleep and circadian disorders, including common and
in the clinic and the proliferation of direct-to-consumer rare sleep disorders. It will first cover current topics in
genetic testing has intensified the pressure to human sleep genetics by providing examples of recent
understand how variation impacts health and other GWAS findings with consecutive resequencing of loci.
traits. Adding to the challenge is the fact that much We will specifically discuss how common non-coding
of the variation in the genome is rare or complex, variants contribute to gene regulation in particular cell
making it difficult to interpret using association- types, and how this knowledge has changed our basic
based methods. Consequently, new approaches understanding of some sleep disorders. We will also
for interpreting variation are being developed, and discuss new findings demonstrating an important role
established methods are being improved. These for immunological genetics in sleep disorders, and will
methods are disparate, including model-based and describe new developments in the design, content
high-throughput approaches for directly measuring the and complementation for exome sequencing that lead
effects of variation and computational approaches that to these findings. Finally, we will review our current
rely on inference. Each has strengths and weaknesses knowledge about the role of epigenetics of circadian
in terms of scale, accuracy and clinical relevance, but rhythms, and the latest findings on epigenetic
they are unified by a common goal: understanding the modification in mice.
consequences of changes in the genome. This session
seeks to bring together these disparate communities 9:00 A M Genetic predisposition, molecular
to explain how these methods are making inroads into mimicry to 2009 H1N1 influenza and resulting CD4+
variant interpretation, discuss the prospects for solving T-cell autoimmunity towards hypocretin/orexin in
the variant interpretation problem on a genomic scale narcolepsy. E. Mignot. Stanford Ctr Sleep Sci and
and stimulate a discussion on new ways to approach Med, Palo Alto.
this critical problem.
9:30 A M Genetics of restless legs syndrome. J.
9:00 A M Population and personal transcriptomics Winkelmann. Stanford Univ, Palo Alto.
to elucidate disease mechanisms. E. Dermitzakis.
Univ Geneva Med Sch, Geneva, Switzerland. 10:00 A M Genetics of circadian disorders. L. J.
Ptacek. Howard Hughes Med Inst., UCSF.
9:30 A M High-throughput screening for causal
non-coding variants. T. Mikkelsen. Broad Inst, 10:30 A M Transcriptional architecture and
Cambridge. chromatin landscape of the circadian clock in
mammals. J. S. Takahashi. Univ Texas Southwestern
10:00 A M Calibration of multiple in silico tools for Med Ctr, Dallas.
predicting pathogenicity of unclassified variants in
DNA repair pathway genes. S. V. Tavtigian. Univ Utah
Sch Med, Salt Lake City.
10:30 A M Sequence-function mapping to

determine the impact of coding variation. D. M.

Fowler. Univ Washington, Seattle.

9:00 AM–11:00 AM 9:00 AM–11:00 AM
73. Heritability and Risk Prediction for Complex Traits: 74. Stakeholder Engagement in Genomics Policy
Regulatory Variants and Polygenic Models Development: What Is It? Why Do It? How?
Room 20BC, Upper Level, Convention Center Room 29, Upper Level, Convention Center
Moderators: Manolis Kellis, MIT / Broad Inst, Moderators: Julie N. Harris, Kaiser Permanente,
Cambridge; Joel Hirschhorn, Harvard Med Sch, Oakland; Amy A. Lemke, Univ Washington, Seattle
Boston
There has been a proliferation of national and
Heritability and risk prediction studies have revealed international policies governing genomic data and
that the genetic architecture of many complex traits clinical technologies over the past three years.
involves a very large number of variants of small Alongside this trend, there is also increasing
effect. Although common variants jointly explain recognition from the Institute of Medicine and other
more than half of narrow-sense heritability, the bodies that engaging key stakeholders in developing
source of their effects remains elusive. This can be clinical and research policies is essential to creating
remedied by exploiting genome-wide annotations sound, transparent, and trusted health policy.
of functional non-coding regions and partitioning However, in practice, the process of stakeholder
heritability across different functional classes of engagement is sometimes loosely defined, resulting
regulatory elements. Moreover, regulatory networks in feedback of variable quality and utility, and there is
linking regulatory variants to their likely target genes lack of clarity on how feedback is incorporated. With
and the biological pathways that connect them can the complex and evolving landscape of genomics,
shed light on underlying disease mechanisms and a re-examination of current methods for identifying
inform association studies and fine-mapping. This and incorporating stakeholder voices in policy and
session will discuss recent work in understanding guideline development is critical. Key questions to
the relative contribution of common SNPs vs. family examine include: 1) Why and when is it important
history, exploiting epigenomics and regulatory to engage key stakeholders in genomics policy
genomics information to understand the role of issues? 2) What roles can stakeholders play in
regulatory information, partitioning the heritability of different stages of policy development? 3) What does
complex traits across genome annotation classes, stakeholder engagement mean to different groups
and polygenic score heritability estimates and risk such as clinicians, payors, and patients? 4) How
prediction. do we practically engage diverse stakeholders in a
cost-effective manner? In this session, we will present
9:00 A M Insights on complex disease architecture novel engagement models, and describe unresolved
from epigenomics and regulatory genomics questions and challenges in stakeholder engagement
studies. M. Kellis. MIT / Broad Inst, Cambridge. and their implications for genomic policy-making.
Topics include: methods for identifying, recruiting
9:30 A M Heritability of functional variant classes and involving stakeholders in policy debate, current
in schizophrenia and other traits: Regulatory issues and models for prioritizing and incorporating
elements explain more heritability than coding stakeholder data, and strategies for evaluating
variants. A. Price. Harvard Sch Publ Hlth, Boston. engagement processes.
10:00 A M Studies of Low Frequency Variation in 9:00 A M Setting priorities for stakeholder
Polygenic Disease and Traits. E. Zeggini. Wellcome engagement in genomics. W. Burke. Univ
Trust Sanger Inst, Hixton, UK. Washington, Seattle.
10:30 A M Explaining heritability and predicting risk 9:30 A M Harnessing social networking to
with polygenic scores. F. Dudbridge. London Sch empower engagement. S. Terry. Genet Alliance,
Hyg & Trop Med, UK. Washington, DC.
10:00 A M Participatory governance and public

deliberative engagement for health and science
policy. M. Burgess. Univ British Columbia, Kelowna,
Canada.
10:30 A M Challenges and opportunities for

stakeholder engagement: Strategies for
incorporating public feedback into biobank policy-
making. B. A. Koenig. UCSF Inst Hlth & Aging.
9:00 AM–11:00 AM 9:00 AM–11:00 AM
75. Variation, Mutation, and Selection through the 76. Viruses, Genomic Instability, and the Pathogenesis
Lens of Regulatory Genomics of Human Cancers
Room 6CF, Upper Level, Convention Center Room 6DE, Upper Level, Convention Center
Moderators: Lucas D. Ward, MIT, Cambridge; Alexis Moderator: David E. Symer, The Ohio State Univ,
Battle, Stanford Univ, Palo Alto Columbus
Comparative studies have shown that the majority of For more than a century, researchers have studied how
sequence conserved across species is noncoding, diverse viruses can cause cancers. Groundbreaking
and that evolutionarily constrained sequence is recent molecular genetics and genomics studies
strongly enriched for regulatory elements defined have dramatically shifted our understanding of
by functional genomics. Experimental work also the molecular mechanisms and consequences of
suggests that epigenetic state is a determinant of such viruses in disrupting genetic pathways and
mutation rate variability across the genome. Both of causing genomic instability in human cancers. The
these observations suggest that regulatory elements, presentations in this session will address the latest
including sequences that dictate chromatin state and breakthroughs in genetics and genomics research,
gene expression, play a pivotal role in shaping the addressing how several types of viruses can cause
landscape of mutation and selection, resulting in the human cancers, and conversely how genomic “safe
sequence diversity patterns we see across and within harbors” may be defined in order to improve virus-
species. This noncoding selection acts on variation mediated gene therapy. Included in the session will be
that is consequential to human health and disease. discussions of state-of-the-art research approaches
This session will highlight work in regulatory genomics using long-range genome sequencing methods,
that explores the relationship between natural analysis of limiting numbers of cells, characterization
sequence variation, chromatin state, expression, and of transcriptomes, identification of novel viral
selection. sequences, and the characterization of genomic
cancer-free zones. Such advances have led to the
9:00 A M The impact of chromatin on mutation discovery of novel viruses in cancers, and are driving
rate. P. Polak. Massachusetts Gen Hosp, Charlestown. current investigations into the biological and clinical
significance of virus-associated genomic instability
9:30 A M Recent purifying selection on enhancer- and the disruption of genetic pathways which
associated motifs. L. D. Ward. MIT, Cambridge. contribute to cancer formation.
10:00 A M Genetic control of chromatin state. G. 9:00 A M Human papillomavirus induces genomic
McVicker. Dana-Farber Cancer Inst / Stanford Univ, instability and disrupts cancer-causing genes
Boston. in human cancers. D. E. Symer. Ohio State Univ,
Columbus.
10:30 A M Mechanism and impact of regulatory
genetic variation from chromatin state to protein 9:30 A M New methods for haplotype resolution
expression. A. Battle. Stanford Univ, Palo Alto. and the reconstruction of complex virus-
associated cancer genomes. J. A. Shendure. Univ
Washington, Seattle.
10:00 A M High resolution analysis of hepatitis B

virus integration in the liver cancer genome. Z.
Zhang. Peking Univ, Beijing, China.
10:30 A M Virus-mediated gene therapy and

the definition of cancer-free safe harbors in the
human genome. F. D. Bushman. Univ Pennsylvania,
Philadelphia.
Wednesday, October 22
11:15 AM–12:30 PM
77. ASHG Membership/Business Meeting and

Announcement of the C.W. Cotterman Award Winners
and the Charles J. Epstein Trainee Awards for
Excellence in Human Genetics Research Winners
Room 20BC, Upper Level, Convention Center
Reports highlighting current Society business will

be presented. This is an opportunity for members to
learn about recent ASHG activities and to provide
suggestions to leaders. There will be a moment of
silence for those members and colleagues we have
lost in 2014. Discussion from the floor is encouraged.
Announcement of the winners of the C.W. Cotterman
Awards and the Charles J. Epstein Trainee Awards for
Excellence in Human Genetics Research will be made
at the start of the Business Meeting.
103
POSTER SESSIONS
Exhibit Hall, Ground Level
POSTER SESSIONS
The program and abstract/poster board number next to each listing is followed by an S (Sunday), M
(Monday), or T (Tuesday) to indicate the day on which authors must be present at their poster boards. Refer
to the schedule below for presentation times and for the poster mounting/removal schedule.
Poster Mounting and Removal

Authors must put up and take down their posters according to the schedule below. Authors must be
present at their boards based on their odd or even abstract/program/board number, and must remain at
their boards for the duration of their scheduled presentation times. Posters should remain on the boards
for all three days.
Sunday, October 19
11:00 am-1:00 pm All poster authors (Sunday, Monday, and Tuesday) place posters on boards
11:00 am-7:00 pm Posters available for general viewing
4:00 pm-6:00 pm Poster Session I (Sunday Authors Present)
4:00 pm-5:00 pm (odd poster board numbers; author must be present)
5:00 pm-6:00 pm (even poster board numbers; author must be present)
Monday, October 20
2:00 pm-4:00 pm Poster Session II (Monday Authors Present)
Tuesday, October 21
2:00 pm-4:00 pm Poster Session III (Tuesday Authors Present)
4:00 pm Posters closed
4:00 pm-4:15 pm All authors remove posters from boards
4:15 pm Exhibit Hall closed
IMPORTANT NOTE:
For safety reasons, no registrant will be admitted into the Exhibit Hall or poster area for any
reason before 11:00 am on Sunday or after 4:00 pm on Tuesday. No exceptions can be made to
this policy.
Do not leave materials or belongings under poster boards or in the poster area. ASHG is not
responsible for any articles left in the poster area or any other area.
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
104 POSTER SESSIONS
POSTER WALKS
Three posters from the topic areas listed below are being highlighted in poster walks led by a prominent
scientist in the field. Registration for the poster walks was by advance registration only.
The leader of each walk selected the posters based on abstract content and will provide context as well as
will highlight some of the more significant and thought-provoking aspects of the research described in the
posters. Poster authors are not required to be at their boards during the walks.
Poster Walk I: Monday, October 20, 12:45 – 1:45 pm

Epigenetics: Leader Haig Kazazian
Poster #s: 437, 481, 489
Bioinformatics and Genomic Technology: Leader Ross Hardison
Poster #s: 1387, 1492, 1651
Clinical Genetic Testing: Leader David Ledbetter
Poster #s: 2442, 2577, 2580
Clinical Genetics and Dysmorphology: Leader Judy Hall
Poster #s: 2769, 2772, 2781
Poster Walk II: Tuesday, October 21, 12:45 – 1:45 pm

Statistical Genetics and Genetic Epidemiology: Leader Aravinda
Chakravarti
Poster #s: 1766, 1787, 1814
Metabolic Disorders: Leader David Valle
Poster #s: 2267, 2279, 2297
Molecular Basis of Mendelian Disorders: Leader Lou Kunkel
Poster #s: 2964, 2967, 3012
Ethical, Legal, Social, and Policy Issues in Genetics:
Leader Wylie Burke Look for this symbol on the poster
Poster #s: 2339, 2347, 2353 boards of authors selected.
CONGRATULATIONS TO THE POSTERS AUTHORS SELECTED
See website for a list of authors.
POSTER SESSIONS 105
The program number and the abstract/poster board number are one and the same.
It appears in bold print followed by the letter S (Sunday), M (Monday), or T (Tuesday).
The title and first author’s name follow.
POSTER SESSIONS
Abstract/Poster Page
Session Topic/Title Board Numbers Numbers
Start # End #
Epigenetics 407 510 106
Genome Structure, Variation, and Function 511 678 109
Pharmacogenetics 679 741 114
Complex Traits and Polygenic Disorders 742 1119 116
Psychiatric Genetics, Neurogenetics, and 1120 1361 127
Neurodegeneration
Bioinformatics and Genomic Technology 1362 1721 135
Statistical Genetics and Genetic Epidemiology 1722 1890 145
Evolutionary and Population Genetics 1891 2034 150
Cardiovascular Genetics 2035 2168 154
Therapy for Genetic Disorders 2169 2213 158
Metabolic Disorders 2214 2302 160
Genetics/Genomics Education 2303 2329 163
Ethical, Legal, Social, and Policy Issues in 2330 2383 163
Genetics
Genetic Counseling 2384 2402 165
Health Services Research 2403 2419 166
Clinical Genetic Testing 2420 2599 166
Clinical Genetics and Dysmorphology 2600 2785 172
Prenatal, Perinatal, and Reproductive Genetics 2786 2865 177
Molecular Basis of Mendelian Disorders 2866 3128 180
Development 3129 3157 188
Cytogenetics 3158 3223 189
Cancer Genetics 3224 3509 191
106 POSTER SESSIONS
422T Applying the Infinium HumanMethylation450

Epigenetics BeadChip assay to archival formalin-fixed paraffin
embedded material for large epidemiological studies.
E. M. Wong.
407M 5-hydroxymethylcytosine Dysregulation in
Neurodegenerative Disorders. B. Yao. 423M Allele-specific distribution of
5-hydroxymethylcytosine at imprinting control regions.
408T Modeling DNA methylation dynamics with K. Yamazawa.
approaches from phylogenetics. J. Capra.
424T Obesity accelerates epigenetic aging of human
409M Genome-wide Methyl-seq analysis reveals liver. J. E. Hampe.
changes in hypothalamic DNA methylation patterns in
response to the enhanced maternal care paradigm. D. 425M Epigenome-wide association study to identify
H. Yasui. new biomarkers for heart failure. U. Afzal.
410T Whole blood DNA methylation changes are 426T X chromosome dosage may cause epigenetic sex
associated to malignant pleural mesothelioma. E. differences in asthma region 17q12-q21. A. Altuwaijri.
Casalone.
427M Epigenome-wide DNA methylation and body
411M UHRF1 as an epigenetic regulator of CDH1 mass index in monozygotic twins. J. T. Bell.
(E-cadherin) in human breast cancer cell invasion and
metastasis. S. Y. Jang. 428T DNA-methylation and the Down Syndrome
phenotype. A. Bouman.
412T Analyses and characterization of adjacent CpG
sites of TCGA BRCA HM450K methylation data. M. P. 429M Low-input Detection of Whole Genome
Lee. Hydroxymethylation. J. Burgess.
413M Sports Related Concussions Induce DNA 430T Full resolution DNA methylome analysis in
Methylation Changes in Immune Cell Trafficking and multiple tissues from twins. S. Busche.
Cell Survival Pathways. H. Kim.
431M Monoamine oxidase A (MAOA) expression level
414T Genome-wide DNA methylation analyses identify predicts alcohol consumption in Rhesus macaques. R.
loci influencing recurrent stroke risk in samples from P. Cervera Juanes.
the Vitamin Intervention for Stroke Prevention clinical
trial. K. L. Keene. 432T Genome-wide DNA methylation study in
American Indians identifies five genes associated with
415M Vitamin B deficiency and gestational intrauterine diabetes exposure. P. Chen.
programming of genes related to Alzheimer’s disease.
V. C. Silva. 433M DNA enrichment as a cost effective tool to
examine DNA methylation at single nucleotide
416T Global Methylation of Fracture Risk in a Cohort resolution. A. Czyz.
of Young African Americans with Forearm Fractures.
C. Sprouse. 434T Genapha/dbASM: web based tools to investigate
allele-specific methylation. D. Daley.
417M Whole-blood DNA methylation patterns and
glycemic traits in the KORA F4 study. J. Kriebel. 435M DNA Methylome Modifications Associated with
HPA Axis Differences in Chronic Fatigue Syndrome. W.
418T The effect of fertility treatments on differential C. de Vega.
DNA methylation in autism spectrum disorder. M. T.
Siu. 436T Smoking Associated DNA Methylation Changes
in Peripheral Blood Mononuclear Cells from African
419M Distinct Patterns of DNA Methylation in Labial American Women and Weighted Protein-Protein
Salivary Gland Tissue Based on Sjögren’s Syndrome Interaction Networks. M. V. Dogan.
Disease Status. M. B. Cole.
437M Epigenome-wide meta-analysis of over 10,000
420T Age and aging dependent epigenetic drift in individuals reveals extensive perturbations in DNA
Danish twins. Q. Tan. methylation associated with adiposity. A. W. Drong.
421M Differentially co-methylated genes in 438T Hypomethylation of Synaptic Genes revealed in

postmortem prefrontal cortex of individuals with Dup15q Autism. K. Dunaway.
alcohol use disorders. H. Zhang.
439M Genome-wide DNA methylation study identifies
genes associated with GDF-15 levels. W. E. Ek.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author.
The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will
present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly
prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 107
440T Black-white difference in regional patterns of 457M DNA methylation of lipid-related genes affects
DNA methylation: the Bogalusa Heart Study. X. Fu. blood lipid levels: a genome-wide screen. L. Pfeiffer.
441M Identification of epigenetic signatures of 458T The Genome Wide DNA Methylation Signature of
childhood socioeconomic-related adversity. S. J. Subjects as They Enter and Exit Short Term Alcohol
POSTER SESSIONS
Goodman. Treatment. R. Philibert.
442T Methylation patterns are associated with 459M genome wide analysis to find epigenetically
chronological age in the Khomani San of South Africa. inactivated regions associated with Thyroid hormones
S. Gopalan. - A population based crosssectional study. R. Rawal.
443M Characterizing a genomic map of 460T DNA methylation profiles that distinguish
5-hydroxymethylcytosine in human brain at single rheumatoid arthritis (RA) from osteoarthritis in
base resolution through next-generation sequencing. fibroblast-like synoviocytes can be detected in
J. Gross. immune cells from peripheral blood. B. Rhead.
444T Global DNA hypermethylation is associated with 461M Epigenome-wide analysis identified highly
increased myopia risk. E. Hsi. significant age-related DNA methylation changes. A.
Russo.
445M Micoarray approach reveals the differentially
methylated regions as potential epigenetic markers in 462T Characterizing Functional Methylomes in Human
preeclampsia. H. J. KIM. Populations Using Novel Next-Generation Capture
Sequencing Approach. X. Shao.
446T Quantification of the placental epigenetic
signature of the maspin gene in maternal plasma of 463M Facioscapulohumeral muscular dystrophy
pregnancies complicated by small for gestational age. 2 (FSHD2) testing - a UK pilot study and a clinical
S. Y. Kim. diagnostic service. D. J. Smith.
447M Methylation levels in peripheral blood may reflect 464T Sex specific epigenetic and transcriptional
central mechanisms mediating GxE associations with responses of peripheral blood leukocytes (PBLs) to
cardiovascular outcomes. L. C. Kwee. lipopolysaccharide (LPS). M. Stein.
448T Genome-wide Association Study of DNA- 465M CpG Methylation and G-quadruplex structure
methylation identifies 9.8 million SNP-methylation influence genotyping of the imprinted MEST gene
associations and provides insight into global promoter. A. J. Stevens.
regulatory pathways. B. Lehne.
466T Dose-dependent changes in DNA methylation
449M Birth weight and DNA methylation. S. Li. identified in Williams syndrome and the reciprocal
7q11.23 duplication syndrome. E. Strong.
450T Maternal age-related changes in DNA
methylation in newborns and adults. C. A. Markunas. 467M Race-specific association between DNA
methylation and body mass index: the Bogalusa Heart
451M Genetic control of the human blood methylome. Study. D. Sun.
J. L. McClay.
468T Genome-wide association scans identify
452T DNA methylation profiles of ten patients with differentially methylated and expressed regions related
Attention deficit hyperactivity disorder: a proof-of- to smoking in adipose tissue. P.-C. Tsai.
principle study. C. Milani.
469M Downstream analyses and Mendelian
453M Age-related DNA methylation profiling in randomization study on methylome-wide associations
CD4 and CD8 T-cells reveals changes in infection- with BMI reveal biological pathways underlying obesity
associated and lineage regulator genes. L. Milani. and related metabolic consequences. S. Wahl.
454T Influence of maternal nutrition on ancestry- 470T Epigenome-wide association study identifies
dependent gene methylation in newborns. K. Mozhui. epigenetic markers for asthma and allergic disease in
the MeDALL study. C. J. Xu.
455M Self-report is a valid measure of maternal
smoking during pregnancy and its epigenetic effects 471M Epigenome-wide DNA methylation changes in
are modified by local (cis) genomic ancestry. S. S. Oh. blood from infants with facial clefts in the Norway
Facial Clefts Study. Z. Xu.
456T Schizophrenia EWAS Supports Findings of GWAS.
A. P. S. Ori. 472T Multiplexed and Quantitative DNA Methylation
Analysis Using Long-Read Single-Molecule Real-Time
(SMRT) Bisulfite Sequencing. Y. Yang.
108 POSTER SESSIONS
473M DNA methylation in preeclamptic versus 490T Random monoallelic expression in neural stem
normotensive placentas. K. R. Yeung. cells, induced pluripotent stem cells and neural
committed cells. A. R. Jeffries.
474T Analysis of DNA methylation by 450K BeadChip
to characterize effects of early life exposures in 491M Somatic and genetic variations in regulatory
children. P. Yousefi. regions revealing discordance between monozygotic
twins. K. Kim.
475M Comparing Statistical Methods for Differential
Methylation Identification Using Bisulfite Sequencing 492T Deciphering the role of DNA methylation in
Data. X. Yu. osteoporosis using MeDIP-seq: A twin-based study
design. J. A. Morris.
476T Potential susceptibility factors of congenital heart
disease identified by epigenome-wide association 493M Epigenome-wide association study of sexual
study of placenta. C. Zeng. orientation in monozygotic twins. T. C. Ngun.
477M An epigenetic map of age-associated autosomal 494T Genes that escape from X inactivation vary in
loci in Northern European families at high risk for the mouse tissues. C. Disteche.
Metabolic Syndrome. Y. Zhang.
495M Male Rett syndrome: Clinical profiling and
478T A microRNA self-regulatory network in testicular insights into epigenomics. J. Duis.
germ cell tumor. W. Chan.
496T Examining Escape from X Chromosome
479M Genetic and epigenetic control of regulation of Inactivation and Sex-Differential Gene Expression. P.
miR-9 expression by alcohol. A. Pietrzykowski. G. Bronson.
480T DNA methylation patterns of specific L1 loci on 497M Placental microRNAs as potential biomarkers for
the short arm of chromosome 21. S. Tincher. noninvasive detection of trisomy 21. H. M. Ryu.
481M Inter-individual Variation in Epigenetic 498T Detection of in vivo G-quadruplex structure of

Susceptibility to D4Z4 Chromatin Relaxation Explains the ANXA5 promoter that contributes to the recurrent
Clinical Variability in FSHD1 and FSHD2. R. J. L. F. pregnancy loss. H. Inagaki.
Lemmers.
499M An epigenetically regulated expression-variable
482T Identification of tumor supressor genes class of genes depleted in neurodevelopmental CNVs.
modulated by histone acetylation in gastric cancer. F. A. Gimelbrant.
Wisnieski.
500T Defining the role of CGGBP1 protein in FMR1
483M KDM5C SINEUP activates an epigenetic path gene expression. M. Goracci.
damaged in XLID/Epilepsy diseases. L. Poeta.
501M Epigenomic Analysis for Single Cells and Small
484T The impact of antisense transcription on Quantities of Cells. X. Pan.
epigenetic signals. C. Wadelius.
502T RNA-Seq revealed canonical RNA editing
485M Methylation analysis and diagnostics of in mouse retina with laser-induced choroidal
Beckwith-Wiedemann syndrome in 1000 subjects. A. neovascularization. J. Chen.
Ibrahim.
503M The influence of Microvesicles carrying
486T Identification of imprinted 4q35 variant microRNA on cross talk between FOXP3 and EZH2 in
associated with the combined asthma-plus-rhinitis multiple sclerosis. A. Hossein-nezhad.
phenotype using both genetic and epigenetic data. C.
Sarnowski. 504T Analysis of miRNAs in MELAS mutant cells. R. Li.
487M Prediction of imprinted genes based on the 505M Genome-wide microRNA expression profiling in
genome-wide methylation analysis. N. Tšernikova. fetal trisomy 21 placenta. J. H. Lim.
488T Characterizing the processing, localization, and 506T Regulation of COL1A1 by miRNAs in scleral
function of Snord116 noncoding RNAs at the Prader- fibroblasts: Implications for myopia control. R.
Willi locus. R. Coulson. Metlapally.
489M Evolutionarily-conserved Imprinting Between 507M Human neural stem dell in the form of
Mouse and Human Orthologs Identified 17 Novel neurosphere: microRNA expression profile. M.
Candidate Genes for Human Imprinting Disorders. E. Palacios-Reyes.
J. Bhoj.
POSTER SESSIONS 109
508T Epigenetic factors regulating DUX4 expression in 523S Studies on the function of HCMV-encoded
muscle cells. J. Balog. essential gene UL49. H. LI.
509M Integrative analysis reveals enhanced regulatory 524M Deep genetic, transcriptomic and epigenetic
effects of human large intergenic noncoding RNAs in
POSTER SESSIONS
maps of human blood elements. L. Chen.
lung adenocarcinoma. X. Kong.
525T Analysis of monoallelic expression in human
510T A Neuroepigenomic Model of the Fetal Alcohol individual cells revealed novel imprinting genes. F.
Exposure Spectrum. B. I. Laufer. Santoni.
526S Somatic Rhodopsin transcriptional repression

Genome Structure, Variation by artificial DNA-binding proteins targeted to cis-
and Function regulatory elements. S. Botta.
527M Epigenetic promoter silencing in Friedreich

511S Allele-aware ChIP-seq alignments identify allelic ataxia is dependent on the length of the GAA triplet-
differences in transcription factor binding at disease- repeat mutation. Y. Chutake.
associated loci. M. L. Buchkovich.
528T Characterizing the predictive features of
512M Functional genomics approaches reveal novel regulatory genetic variants. N. M. Ioannidis.
role of a key hematopoietic transcription factor in
blood disorders. M. Byrska-Bishop. 529S Characterization of enhancer gene interactions
using DNaseI and gene expression data across 110 cell
513T Identifying rare, non-coding DNA variants in types. P. Kheradpour.
Systemic Lupus Erythematosus. S. J. White.
530M Allele-specific gene expression analysis of
514S Coordinated Regulatory Variation Associated RNA-seq data in 471 healthy prostate tissue samples
with Maternal Glycemic Traits Regulates HKDC1 identifies extensive aseQTLs in the human prostate
Expression. T. E. Reddy. transcriptome. N. B. Larson.
515M HyCCAPP for functional proteomic analysis of 531T Uncovering SMCHD1 regulation of the
promoter variants associated with plasma lipid levels Protocadherin Cluster. A. G. Mason.
and gene expression in Mexican Americans. H. Guillen
Ahlers. 532S Allelic expression in single human primary
fibroblasts. C. Borel.
516T Single cell allele specific expression (ASE)
in Down syndrome and common aneuploidies. G. 533M Exploring the Human Genome for Functional,
Stamoulis. Non-Coding Variation: Implications for Diseases of the
Peripheral Nerve. W. Law.
517S Analysis of long-range interactions in primary
human cells reveals CFTR new regulatory elements. S. 534T Sex-specific Association of Alu Retrotransposons
Moisan. with Gene Expression. S. Linker.
518M Assessing the functional significance of 535S MicroRNA Expression, APOE and TOMM40. L. M.
disease-associated cis-regulatory variants in vivo Bekris.
using a versatile dual colour transgenesis strategy in
zebrafish. S. Bhatia.
536M Gene silencing mediated by endogenous
miRNAs under heat stress conditions in mammalian
519T Systemic Lupus Erythematosus-associated cells. M. Fukuoka.
functional variants influence the gene expression
of UBE2L3 through the regulation of promoter and
537T MicroRNA profiling of human lymphoblastoid,
enhancer activities. S. Wang.
iPS and neural stem cell lines shows overlapping but
distinct expression patterns. S. Kumar.
520S Comparative genomics and abstraction of DNA
sequences allow the identification of cis-regulatory
538S The AGO3 Slicer controls the dynamic
signatures. P.EM. Guimaraes.
mitochondria-nuage localization of Armitage and
contributes to piRNA biogenesis. Y. Li.
521M Detecting gene-by-environment interactions
using allele specific expression. D. A. Knowles.
539M The functional role of lncRNAs in breast tissue-
specific gene regulation. E. Wagner.
522T An investigation of the correlation between
cis-genetic and environmental factors regulating
540T Genome-wide discovery of tissue specific
gene expression between cell types, exposures, and
properties of human small non-coding RNAs. Y. Y.
populations. N. Zaitlen.
Leung.
110 POSTER SESSIONS
541S A tissue-specific lincRNA in the TRAF1-C5 risk 557M Analysis of Genome-Wide RNA-Sequencing Data
locus as a putative cis-regulator bridging genetics and Reveals Age of the CEPH/Utah (CEU) Lymphoblastoid
disease. T. Messemaker. Cell Lines Systematically Biases Gene Expression
Profiles. Y. Yuan.
542M Conservation and Novel Functions of Non-
coding RNAs. T. R. Gingeras. 558T Transcriptome analyzes in human corneas
derived from keratoconus and control individuals from
543T The landscape of retrotransposon expression in Poland. M. Gajecka.
human lung adenocarcinomas. A. Biton.
559S Defining tissue compartment gene expression
544S Overexpression of the FMR1 mRNA in dysregulation in asthma by multi-tissue whole
premutation carriers is isoform specific. C. Yrigollen. transcriptome sequencing. A. Wesolowska-Andersen.
545M High throughput identification of exonic 560M Identification of Gene Expression Signatures in
sequence variation that exhibits allelic imbalance in Alopecia Areata. J. Cerise.
RNA splicing. R. Soemedi.
561T Dynamic Transcriptome Changes in Cell-free
546T Impact of microRNA binding site polymorphisms Synovial Fluid following Meniscal Injury Suggests the
on gene expression variation. T. Annilo. Potential for Early Intervention. D. D. Vance.
547S High-Resolution Genomic Analysis of Human 562S Defining the transcriptional landscape of
Mitochondrial RNA Sequence Variation Reveals microRNAs in human peripheral blood. G. Hemmrich-
Genetic Determinants of Post-transcriptional Stanisak.
Modification and Interplay with the Nuclear Genome.
A. Hodgkinson. 563M Systematic Analysis of Age and Sex Effect
Identified Different Behaviors between Coding and
548M RCARE: RNA-Sequence Comparison and Non-coding Genes and Two Age-dependent Patterns
Annotation for RNA Editing. SY. LEE. of Gene Expression. M. Narahara.
549T The RNA Editing Landscape in Acute Myeloid 564T Whole Transcriptome Sequencing in Alzheimer’s
Leukemia. E. Meduri. Disease Reveals Gene Expression Differences Related
To ;.-ʹ Pathway. K. Nho.
550S Global identification of binding sites for the
splicing regulatory factors SRSF5 and hnRNPA1. G. H. 565S Predictive Gene Markers of Multipotent Stromal
Bruun. Cell Proliferation. I. H. Bellayr.
551M Recursive splicing: a novel regulatory 566M Transcriptome applied to a bloom’s syndrome:
mechanism in the human brain that contributes to the immunological insigths. M. M. Montenegro.
processing of long genes. W. A. Emmett.
567T Significant transcriptional changes in 15q
552T Complex alternative splicing patterns in human duplication but not Angelman syndrome deletion
hematopoietic cell subpopulations revealed by third- dental pulp stem cell derived neurons. L. Reiter.
generation long reads. A. Deslattes Mays.
568S Viral RNA detection with RNA-Seq using capture
553S Analysis of the expression levels of chitinase-like technology. S. M. Gross.
proteins, Ym1, Ym2 and breast regression protein-39,
in mouse tissues. M. Ohno. 569M Identifying conserved genomic responses
to inflammation in vascular endothelial cells. L.
554M Cross-species gene expression analysis of Antounians.
chitinase-like proteins with mammalian chitinases
using qPCR in mouse and human tissues. F. Oyama. 570T Transcriptional and Epigenetic Landscape
of Megakaryocytes derived from Human Induced
555T Transcriptome Profiling of Gamma Secretase Pluripotent Stem Cells. L. J. Vasquez.
Inhibition in Breast and Ovarian Cancer Cells. A.
Mannermaa. 571S BRF1 mutations alter RNA polymerase
III-dependent transcription and cause
556S Understanding cellular heterogeneity of neurodevelopmental anomalies. P. L. Tan.
pancreatic islets of Langerhans using single-cell RNA-
seq. M. Garieri. 572M Association study of the Human Leukocyte
Antigen-G and gallstone disease in Han Chinese. H.
Yang.
POSTER SESSIONS 111
573T Structural Variation Analysis Using Nanochannel 590M Deletions of Regulatory Boundaries are
Genome Mapping to Evaluate Genome Integrity after Associated with Congenital Disease. M. Spielmann.
Induction of Pluripotency of Human Fibroblasts. E. H.
Cho. 591T Sensitive and efficient analysis of somatic
POSTER SESSIONS
mosaicism using genomewide SNP arrays and
574S An exercise filled lifestyle may alter the gut haplotypes. S. Vattathil.
metagenome exposed to polychlorinated biphenyl. E.
Rampersaud. 592S Monozygotic Twin Pairs: CNV and sequence
concordance. A. Abdellaoui.
575M Characterizing gut microbiota variation across
diverse rural African populations. M. E. B. Hansen. 593M Even and odd: defining the structure of variation
at the human amylase CNVs. J. A. L. Armour.
576T Interactions between host genetics and diet
affect gut microbiota and influence metabolic traits in 594T Genome-wide analysis of copy number variants
mouse and human. E. Org. and their association with kidney transplantation
outcomes. L. Bassaganyas.
577S Drosophila fragile X mental retardation protein is
associated with chromatin and regulates replication 595S Inverted repeats mediate complex genomic
stress-induced DNA damage response. Y. Cheng. rearrangements including quadruplication. C. R. Beck.
578M Impact of Structural Variants on the three- 596M Deciphering the complex effect of the 16p11.2
dimensional multi-scale chromatin conformation of the duplication using large family-based cohorts. W. K.
human genome. D. Plewczynski. Chung.
579T Higher order chromatin structure and CFTR gene 597T Population genetics and mutation analysis of an
regulation: roles of cis-regulatory elements and CTCF/ exceptionally copy number variable sperm gene. A.
cohesin complex. R. Yang. Davis.
580S The Chromatin Architecture of a Haploid Human 598S Functional Effects of Copy Number Variant
Cell Line. D. A. Cusanovich. Junctions. K. Dumas.
581M A Computational Pipeline for Characterization, 599M Identifying Population-Specific Structural

Identification, and Significance Analysis of the Somatic Variation in Human Blood Group Genes. K. Fox.
Copy Number Variations from Genome Sequencing
Datasets. A. Harmanci. 600T Characterization of Copy Number Variation and
Loss of Heterozygosity Using high resolution SNP
582T Method for classifying candidate structural MicroArray -The Miami Experience. G. Ghaffari.
variants into true positives and false positives. H.
Parikh. 601S The role of the genomic architecture of
transposable elements in the formation of copy
583S Genomic CNVs can cause sudden infant death number variants: evidence from one schizophrenia
syndrome (SIDS). A. Pfeufer. family. G. Guffanti.
584M In vivo dissection, causality identification, and 602M De novo Germline Variants from WGS of Autism
network analysis of copy number variants associated Spectrum Disorder Trios. M. Gujral.
with autism spectrum disorders. C. Golzio.
603T Multi-allelic copy number variation humans. R.
585T Increased relative mitochondrial DNA content in Handsaker.
Keratoconus patients. A. Kondkar.
604S Comparative performance analysis of high-
586S Structural haplotypes of the human amylase resolution, genome-wide array platforms for copy
locus and their relationship to obesity. C. L. Usher. number variation detection. R. R. Haraksingh.
587M Constitutional chromothripsis: A novel 605M Discovering Copy Number Variations in

phenomenon in congenital disorders. A. Alhariri. ClinSeq®: A Large-Scale Whole Exome Sequencing
Study. C. S. Hong.
588T End-point zygosity and CNV determination from
crude samples. C. Liu. 606T Optimization of a High-Throughput, Cost-
effective, Reliable Method for Large-Scale Screening
589S Sequencing the genomes of single cells. P. of CNVs at Candidate Loci using qPCR. C. Kao.
Ribaux.
112 POSTER SESSIONS
607S SVA retrotransposon insertion-associated 625S The role of the host genetic variability in the
deletion represents a novel mutational mechanism influenza-A virus susceptibility. A. C. Arcanjo Silva.
underlying large genomic copy number changes with
non-recurrent breakpoints. H. Kehrer-Sawatzki. 626M The European Genome-phenome Archive (EGA)
as a federated effort to provide secure global access
608M Genome-wide association study of copy number to genome and phenotype data for hundreds of
variation with hematological traits using family-based thousands of samples. I. Lappalainen.
Samples. B. Kim.
627T Integrative Japanese Genome Variation Database
609T Comprehensive analysis of large structural from the cohort study of Tohoku Medical Megabank
variants in well-characterized human genomes. E. Lam. Organization (ToMMo). Y. Yamaguchi-Kabata.
610S Estimating the parental haplotype source of 628S Complete haplotypes of the human light chain
germline-transmitted de novo duplications. Y. Liu. immunoglobulin loci from a hydatidiform mole BAC
library provide insights into locus-specific signatures
611M Copy number variants identified in Japanese of genetic diversity. K. Meltz Steinberg.
women. O. Migita.
629M Defining Variation Sensitive Regions in Genes
612T Rare large CNVs are associated with intellectual Associated with Hearing Loss. A. N. Abou Tayoun.
disability, education level, and female fertility in
general population. K. Männik. 630T Deep targeted sequencing of SLE associated LD
blocks reveals multiple putatively functional variations
613S The impact of smaller CNVs and inherited gene- in strong LD with SLE GWA SNPs: A haplotype based
disruptive SNVs in sporadic autism. T. Turner. assessment of disease risk. P. Raj.
614M Somatic Copy Number Variation at Birth. A. 631S Mutation characteristics in families with two or
Valind. more siblings with Autism Spectrum Disorder. R. K. C.
Yuen.
615T Complex structural variant in a family with Autism
Spectrum Disorder discovered by whole genome 632M Identifying candidate genes and domains for
sequencing. S. Walker. X-linked diseases using population exome data. X. Ge.
616S Genome-wide copy number variants analysis 633T A15924G mt-tRNAT Gene Mutation is not the
identifies deletion variants associated with ankylosing Primary Cause of Mitochondrial Myopathies. A. Cakiris.
spondylitis. S. Yim.
634S A Mouse Mutagenesis Scheme to Isolate Lethal
617M Correction of artefacts in estimation of rare X-Linked Recessive Mutations. F. J. Probst.
copy number variants for analyses of burden and
association in type 1 diabetes. N. J. Cooper. 635M The relative impact of DNA mutation and RNA
editing as sources of somatic sequence variation in the
618T The structural architecture of SNP effects on transcriptomes of normal adult tissues. D. Conrad.
complex traits. L. Davis.
636T Distinct variation in the LILRB3 and LILRA6 genes
619S Genetic variation in introns that flank alternatively encoding a myeloid inhibitory and activating receptor
spliced exons: A new way to look for disease-related pair. A. Bashirova.
variants. A. Neininger.
637S Finding effectively neutral sequence in the
620M Expression of human acidic mammalian presence of coding and noncoding conserved
chitinase in Escherichia coli and analysis of its elements. A. E. Woerner.
properties. K. Okawa.
638M The associations of multiple genes with systemic
621T Beyond the 1000 Genomes Project. L. Clarke. sclerosis by next generation sequence technology. H.
Li.
622S Empirical and computational survey of functional
regulatory genetic variants. G. A. Moyerbrailean. 639T Evolutionary constraint and disease associations
of post-translational signaling sites in human
623M The success of whole exome sequencing genomes. J. Reimand.
diagnosis in a large cohort of patients with Mendelian
disorders. T. Roscioli. 640S Genetic analysis of dendritic cell responses
to influenza using RNA sequencing reveals novel
624T Identifying tagging SNPs for African specific genotype by stimulation effects on alternative splicing.
variation from the African Diaspora Genome. H. R. C. J. Ye.
Johnston.
POSTER SESSIONS 113
641M Expression quantitative trait analysis in human 659M Quantifying Context Specificity of Gene
platelets. L. Simon. Regulation using Predicted Gene Expression Levels. S.
V. Mozaffari.
642T Accurate and fast multiple testing correction to
POSTER SESSIONS
identify eGenes in eQTL studies. J. Sul. 660T Genetic architecture of the transcriptome of four
tissues in a twin cohort. A. Buil.
643S Ttn as a likely causal gene for QTL of alcohol
preference on mouse chromosome 2. L. Wang. 661S Genome-Wide Analysis of Expression Short
Tandem Repeats. M. Gymrek.
644M Cross-population Meta-analysis of eQTLs: Fine-
mapping and Functional Study. X. Wen. 662M Cross-platform validation and cross-tissue
activity of expression quantitative trait loci (eQTL). A.
645T Linking systems genetics and co-expression J. Jasinska.
analysis to elucidate diabetic kidney disease regulatory
networks. T. Leak. 663T Transcriptome sequencing of a large human
family identifies the impact of rare non-coding
646S Mediation analysis identifies causal relationships variants. X. Li.
among SNPs, cis-CpG methylation, and cis- and trans-
transcripts. B. Pierce. 664S Allele specific expression and eQTL in diploid
genomes. S. C. Munger.
647M Characterizing the genetic basis of innate
immune response in TLR4-activated human 665M An integrated framework for evaluating the
monocytes. S. Kim. pathogenicity of rare, population-specific non-coding
variation. Z. Zappala.
648T Analysis of genetic and environmental
determinants of gene expression. F. Luca. 666T Modeling uncertainty in RNA-seq analysis:
Beyond differential expression. G. E. Hoffman.
649S Identification of novel trans-acting eQTLs at
SLC25A38-MYRIP-EIF1B and CIITA in subcutaneous 667S Meta-Analysis of Liver eQTL Studies and Cross-
adipose tissue. Y. Wu. tissue eQTL Comparison using GTEx Data. E. L. Seiser.
650M Long intergenic non-coding RNA eQTLs are 668M Functional mapping of eQTL signals for prostate
enriched for complex trait-associated SNPs and do cancer risk SNPs. L. Tillmans.
not distally regulate the expression of protein-coding
genes. I. McDowell. 669T Sex-specific genetic architecture of the
transcriptome. E. R. Gamazon.
651T Massively parallel identification of non-coding
causal alleles driving genetic associations. R. Tewhey. 670S Activating mutations in STIM1 and ORAI1 cause
overlapping syndromes of tubular myopathy and
652S Uncovering expression variability and eQTLs on congenital miosis. M. Kousi.
the X chromosome. K. Kukurba.
671M High-resolution personal genome-wide maps of
653M Universal eQTL: discovery and replication across meiotic double-strand breaks in humans. F. Pratto.
cell type and population. S. A. Shenoy.
672T Investigating the maternal age effect on meiotic
654T Sex-biased genetic effects on the transcriptome recombination in multiple cohorts. H. C. Martin.
of monocytes and T-cells. N. L. Tignor.
673S Mapping of two neurogenetic disorder genomes
655S ERAL1 Stabilization of miRNA: A Novel with a single molecule nanochannel array platform for
Regulatory Mechanism of Gene Expression. K. Aquino- genome-wide structural variation analysis. Y. Y. Y. Lai.
Michaels.
674M Association study of COL11A2 with aspirin
656M Genome-wide Identification of microRNA exacerbated respiratory disease and its FEV1 decline.
Expression Quantitative Trait Loci in the Framingham J. Kim.
Heart Study. T. Huan.
675T Bovine animal model for spermatic and scrotal
657T Dissecting the genetic regulation of exosome alterations: additional clues for an X-chromosome
RNA cargo in a large family. E. K. Tsang. component. P. A. S. Fonseca.
658S Analysis of hypothalamus transcriptome and 676S De novo genome assembly and structural
proteome in 100 strains of mice on high fat diet. Y. variations detection by genome mapping on
Hasin. nanochannel arrays. A. C. Y. Mak.
114 POSTER SESSIONS
677M An integrated platform for the collection of 692M Association study of polycystic ovary syndrome
biospecimens to support the Genotype-Tissue with two single nucleotide polymorphism of follicle
Expression (GTEx) Project. JC. Keen. stimulating hormone receptor in Iranian patients:
rs1394205 and rs6166. B. Dehghan Banadaki.
678T Functional characterization of recent single
nucleotide mutations on HSPA1A, a human Hsp70 693S In Vitro system to assess functional impact of
gene. K. Hess. heterozygous variants and complex combinations of
variants in dihydropyrimidine dehydrogenase. C. R.
Jerde.
Pharmacogenetics
694M In silico gene expression results enhance
understanding of association studies. L. Li.
679S Impact of genetic polymorphisms in FADS1,
FADS2, and FADS3 genes on fatty acid metabolic
695S Mapping histone modifications provides novel
mechanism on methadone therapy in Taiwan. R. Wang.
insights in pharmacogenomic discovery. C. Liu.
680M Drug Metabolizing Enzyme and Transporter

696M Gene Expression Based Models for Cancer Drug
Gene Variation, Nicotine Metabolism, and Cigarette
Sensitivity. U. Ozbek.
Consumption. A. W. Bergen.
697S Statin-induced expression change of INSIG1 in
681S Genetic variation in glutamate signaling
lymphoblastoid cell lines is correlated with plasma
influences response to cognitive behavioral therapy in
triglyceride statin response in men. E. Theusch.
pediatric anxiety. C. G. Bhat.
698M Accelerating Drug Development with
682M Clinical and pharmacogenomic features of
23andMe Phenome-Wide Association Studies. F.
cisplatin-induced ototoxicity in Asian nasopharyngeal
Sathirapongsasuti.
carcinoma patients. S. L. Chan.
699S Association of C677T polymorphism of the
683S Genetic moderators of treatment response to
MTHFR gene with toxicity in breast cancer patients
dexmethylphenidate in children and adolescents with
treated with FEC chemotherapy. A. Ramos-Silva.
ADHD. S. N. Chang.
700M Integration of Genetics into Clinical
684M Genetic vulnerability to adverse child attachment
Development. D. Waterworth.
quality and stress reactivity. E. H. Gail.
701S A genome-wide association study on
685S Genetic variation in mitochondrial pore protein
antipsychotic-induced body weight gain dissecting the
ANT1 predicts antipsychotic-induced weight gain in
CATIE sample. M. Maciukiewicz.
the NIMH RUPP Autism sample. K. J. Hwang.
702M Genome-wide association study of resistant
686M The application of personalized medicine for
hypertension in INVEST. N. El Rouby.
understanding clinical variability in rasagiline response
in early Parkinson’s Disease. J. Knight.
703S Identification of nonresponders through the use
of EMRs identifies MSRA as a potential controller of
687S Evaluation of candidate gene SNPs in the
response of asthmatics to inhaled corticosteroids. M.
International Clopidogrel Pharmacogenomics
E. March.
Consortium (ICPC) reveals genetic variation that
significantly impacts on-treatment platelet reactivity.
704M A genome-wide association study of hepatic
J. Lewis.
toxicity of methotrexate therapy for rheumatoid
arthritis. H. Mo.
688M Genetic variation in the oxytocin/vasopressin
locus is associated with treatment-dependent
705S A genome-wide association study identified
improvement in social functioning in autism spectrum
variants in KCNIP4 associated with ACE inhibitor
disorder. W. Li.
induced cough. J. D. Mosley.
689S Genetic variation in dopaminergic and adrenergic
706M International Clopidogrel Pharmacogenomics
receptor targets moderates weight loss during ADHD
Consortium Genome Wide Association Study Identifies
treatment. N. A. Nguyen.
Novel Variants for Clopidogrel Response. A. Shuldiner.
690M Differential genetic effects of the melanocortin
707S Class II HLA variants are associated with
system in antipsychotic-induced weight gain in
differential antibody response to toxoid vaccinations in
children versus adults. A. K. Subhash.
a cohort of Ugandan infants. A. J. Mentzer.
691S Metformin functional pharmacogenomics: STUB1
functions as an E3 ligase for cyclin A and affects
metformin sensitivity. N. Niu.
POSTER SESSIONS 115
708M A genome-wide meta-analysis of corticosteroid 724M Role of APOE4 genotypes in predicting
response in asthmatics identifies a novel associated cardiometabolic outcomes in individuals with
haplotype on chromosome 4. Q. L. Duan. metformin and metformin-sulfonylurea combination
therapy. G. Priamvada.
709S Additional genetic risk factors for
POSTER SESSIONS
carbamazepine-induced cutaneous adverse drug 725S Genome Liberty: Direct-to-Consumer
reactions detected by conditional analysis using Pharmacogenetics. J. A. Rosenfeld.
HLA-A*31:01 as a covariant in Japanese population. T.
Ozeki. 726M CHRNA4 rs1044396 is associated with smoking
cessation with varenicline therapy. P. C. J. L. Santos.
710M A Phenome-Wide Association Study of
Numerous Laboratory Phenotypes in AIDS Clinical 727S Early drug responses that are followed by an
Trials Group (ACTG) Protocols. S. Pendergrass. acquired drug resistance in non-small cell lung cancer
cells exposed to gefitinib. M. Takahashi.
711S Genome-wide association study of warfarin
maintenance dose in a Brazilian sample. G. Suarez- 728M Modeling the pharmacological response
Kurtz. to advance the research in pharmacogenetics. J.
Bertrand.
712M Swedegene: Genome-wide association study of
drug-induced agranulocytosis. M. Wadelius. 729S “A Tale Of Genetic Variation In The Human
SLC22A1 Gene Encoding OCT 1 Among Type 2
713S DMET platform identifies unique changes in Diabetes Mellitus Population Groups Of West Bengal,
metabolic gene variants in ethnic Arabs. S. MAJID. India”. D. Sur.
714M Selection of cancer patients based on tumor 730M A role for B cells in Progressive Multifocal
AKT1 or PIK3CA mutation status. J. Fox. Leukoencephelopathy revealed by comprehensive
genomic analysis. J. Carulli.
715S Impact of regular physical activity on weekly
warfarin dose requirement. P. Shahabi. 731S Association between CYP2B6 +516 G>T
polymorphism and response to first-line therapy in
716M Comparison of parents’ initial intent and Brazilian HIV-1+ individuals. T. B. Almeida.
reported sharing of their children’s CYP2D6 research
results at three month follow up. C. A. Prows. 732M Identifying Differentially Expressed Genes
Associated with Extreme Blood Pressure Response to
717S Software for the clinical implementation of Hydrochlorothiazide monotherapy. A. C. Costa Sa.
pharmacogenomic testing. R. Ammar.
733S Contribution of rare protein-coding variants to
718M Implementation of pharmacogenomics into anti-TNF treatment response in rheumatoid arthritis
clinical practice: Mayo Clinic experience. P. J. patients. D. Diogo.
Caraballo.
734M Assessing the clinical utility of massively parallel
719S The Kaiser Permanente/UCSF Genetic sequencing for pharmacogenomics research in the
Epidemiology Research Study on Adult Health and ClinSeq® study. D. Ng.
Aging: Characterization of Clinically-Actionable
Pharmacogenetic Alleles in over 100,000 Patients 735S Development of a multiplex genotyping method
with Biobank-linked Electronic Medical Records. N. for CYP2C19 specialized to Korean using the single
Gonzaludo. base extension technique. D. Seo.
720M Evaluating the Application of Star Allele 736M NAT2 polymorphisms in a Brazilian indigenous
Nomenclature for Pharmacogenomics in the Era of group. V. M. Zembrzuski.
High-Throughput Sequencing. A. Gordon.
737S Pharmacogenomic Analysis of the Ashkenazi
721S A sequence-based pharmacogenomic (PGx) Jewish Population by Whole-Genome Sequencing. S.
panel: determining CYP2D6 sequence variants and A. Scott.
copy number variation. A. E. Kwitek.
738M CYP2D6 allele specific copy number analysis
722M Prevalence of CYP2C19 * 2 polymorphism in using TaqMan® SNP Genotyping Assays and digital
the population with a clopidogrel prescription tertiary PCR. T. Hartshorne.
Clinic. J. Martinez.
739S Analysis of CYP1A2 gene non-coding region
723S Clinician Views about Implementation of polymorphisms in Roma and Hungarian population
Pharmacogenomics into Practice. J. F. Peterson. samples. B. Melegh.
116 POSTER SESSIONS
740M Evaluation of DNA extracted from up to 16 years 756T Locating new genes which may be involved in
old post-mortem blood FTA cards using Quantifiler the development of Primary Congenital Glaucoma. D.
Human Plus Quantification Kit. AL. Rahikainen. Bercovich.
741S Utilizing Pharmacometric Modeling in 757S Genome-wide Copy Number Variants in Chronic
Pharmacogenetic Association Tests to Increase Study Obstructive Pulmonary Disease (COPD). F. Begum.
Power. H. Zhou.
758M Investigating the role of salivary amylase copy
number in obesity using low-pass whole genome
Complex Traits and Polygenic sequencing. M. A. Tuke.
Disorders
759T Novel Missense Mutations in ABCC8 and Type 2
Diabetes in Pima Indians. L. J. Baier.
742S Exome sequencing of multiplex oral clefts
families detects recurrent shared rare variants in 9 760S Targeted sequencing of genes associated with
genes. E. R. Holzinger. type 2 diabetes in 6800 individuals. V. Bansal.
743M Candidate gene analysis of non-syndromic tooth 761M Characterizing variation under linkage peaks in
agenesis in Japanese. J. Machida. families. K. L. Edwards.
744T Exome sequencing reveals novel genetic cause 762T An exome-wide sequencing study for type
of hereditary motor Neuropathy. S. Poornima. 2 diabetes-associated kidney disease in African
Americans. M. Guan.
745S Whole Exome Sequencing Analysis of Severe,
Early-Onset COPD in Extended Pedigrees. D. Qiao. 763S Exome chip meta-analysis identifies novel loci
and low-frequency variants contributing to central
746M Whole Exome Sequencing in Severe Chronic body fat distribution. A. E. Justice.
Obstructive Pulmonary Disease. J. Xing.
764M Whole genome sequence based analysis of
747T Autism spectrum disorders and dystrophinopathy thyroid function. NJ. Timpson.
in three non-identical twins. D. P. Moreira.
765T Gene-variants associated with familial mesial
748S Rare variants in high-risk pancreatic cancer temporal lobe epilepsy identified by whole exome
susceptibility genes may increase risk for pancreatic sequencing. R. Secolin.
cancer in some patients with and without CDKN2A
mutations. A. M. Goldstein. 766S Mutations in Human Capicua Gene Found in
Patients with CFD and NTDs. Y. Lei.
749M Whole Exome Sequencing of 75 Hereditary
Prostate Cancer Families. E. Ostrander. 767M Combining linkage analysis and whole-exome
sequencing for the identification of novel ADHD-
750T Identification of genetic variants in a related variants in multi-generation pedigrees. J.
consanguineous family with psychotic cases using Corominas-Galbany.
autozygosity mapping and whole-exome next
generation sequencing. A. Al Amri. 768T Targeted exome sequencing in extended
pedigrees with type 2 diabetes identifies a novel
751S Haploinsufficiency for DLX4 is Associated With diabetic nephropathy susceptibility gene. M. G.
Abnormal Craniofacial Development and Upregulated Pezzolesi.
BMP4. A. L. Choi.
769S Mis-matches between adiposity and metabolic
752M Exome sequencing reveals a novel cubilin traits: A replicated genomewide association study for
missense variant associated with albuminuria in metabolic disparity. L. J. Corbin.
american indians. N. Franceschini.
770M Association analysis of exome chip data of
753T Examining Associations Between Multiple Polycystic Ovary Syndrome in Estonian Biobank. R.
Sclerosis Cognitive Impairment and Genes Previously Magi.
Associated with Cognitive Decline in Other Disease. C.
Holingue. 771T Large-scale exome chip genotyping reveals novel
coding variation associated with endometriosis. A. P.
754S Genetic contribution to cerebral palsy. G. Morris.
McMichael.
772S Association of Rare Variants with Cerebral Palsy
755M Testing the effect of compound heterozygosity by Whole Exome Sequencing. JJ. Connolly.
on anthropometric traits in the general population. S.
Lessard.
POSTER SESSIONS 117
773M Whole Genome Sequencing for Discovery of 789T Whole genome sequencing of two trios
Variants associated with Neuromyelitis Optica. A. Day- identifies mutations in ADNP2 and ZNFP2, candidate
Williams. genetic modifiers for 22q11DS cognitive and cardiac
phenotypes. J. Chung.
774T Whole exome sequencing in a patient with
POSTER SESSIONS
multiple miscarriages identifies a novel candidate 790S Whole exome sequencing of Cold Medicine-
gene. C. Demetriou. Related Stevens-Johnson Syndrome/Toxic Epidermal
Necrolysis (CM-SJS/TEN) with Severe Mucosal
775S The use of exome sequencing to identify single Involvement. Y. Hitomi.
nucleotide variants associated with necrotizing
enterocolitis in premature infants. J. M. Devaney. 791M Identification of putatively causative variants
in three anorexia nervosa multiplex families by whole
776M Whole-exome imputation of sequence variants exome sequencing. D. Li.
identified two novel alleles associated with adult body
height in African Americans. M. Du. 792T Whole exome sequencing implicates novel
rare genetic variants in susceptibility to Legionella
777T Next steps for whole exome sequenced cases: pneumonia. A. Ndungu.
imputing non-coding regions and incorporating whole
genome sequenced controls. A. E. Hendricks. 793S Exome sequencing of multiplex pedigrees for the
identification of novel rare susceptibility variants for
778S Whole-exome DNA sequencing to find new CD. B.-S. Petersen.
variants associated with fetal hemoglobin levels. K. S.
Lo. 794M Mutations in LRP2 and NUP205 in Patients with
Non-Syndromic Autosomal Recessive Intellectual
779M Whole-Exome Sequencing Identifies Rare, Disability Using Exome Sequencing. N. Vasli.
Functional CFH Variants in Families with Macular
Degeneration. J. Seddon. 795T Low-frequency coding variation in PRF1 and
GALC mediate multiple sclerosis risk. C. Cotsapas.
780T Whole genome sequencing of 3,514 individuals
from the founder population of Sardinia. C. Sidore. 796S Genomic Insights into Innate immunity against
Viral Respiratory Infections in Pediatric Population. S.
781S Insights into the genetic architecture of Asgari.
anthropometric traits using whole genome sequence
data. I. Tachmazidou. 797M Evaluating the impact of rare functional
polymorphisms in pediatric sepsis. A. Bittencourt
782M Next-generation association studies in isolated Piccini.
populations. E. Zeggini.
798T Exome sequencing of 487 Community Acquired
783T When nature meets science: longevity blueprint. Pneumonia patients. K. S. Elliott.
D. Ben-Avraham.
799S Genome-wide exome array analyses reveal novel
784S Quantitative trail loci for plasma proteins in rare variants for refractive error in Asia populations.
current and former smokers with and without chronic Q. Fan.
obstructive pulmonary disease (COPD). R. P. Bowler.
800M Analysis of the rare variant burden in the exomes
785M Low-frequency coding variants associated with of candidate HIV-target genes in relation to HIV-
female reproductive ageing. K. S. Ruth. acquisition and AIDS-progression. M. C. Turchin.
786T Redefining the contiguous gene syndrome in the 801T The application of the new D5000 ScreenTape
era of high-throughput sequencing. L. Colleaux. assay in larger NGS library quality control. A. Inche.
787S Sequencing of genes expressed in podocytes 802S Using Exome Sequencing Followed By
uncovers FSGS risk alleles in European-American Genotyping To Identify Susceptibility Gene For Morbid
population. M. Artomov. Obesity. H. Jiao.
788M Evaluating rare variants in ZNF469 and other 803M Identification of genes involved in functional
GWAS identified candidate genes in keratoconus. K. recovery after stroke through exome sequencing of
P. Burdon. extreme phenotypes. R. Rabionet.
804T Lessons Learned From the Sequencing of Severe

Insulin Resistance Exomes. F. Payne.
118 POSTER SESSIONS
805S Disease associated variants in healthy 822T Associations of BST2 Polymorphisms with
centenarian exomes. L. C. Tindale. HIV-1 Acquisition in African American and European
American People who Inject Drugs. E. O. Johnson.
806M Genetic variation among Multiple Sclerosis in
Saudi Patients. M. Albalwi. 823S Assessing genetic association between
RASGRP3 and SLE susceptibility. X. Kim-Howard.
807T Admixture mapping of exome genotyping data
implicates region 15q21.2-22.3 with keloid risk in 824M Polymorphism in MEN-1 gene is associated with
African Americans. K. S. Tsosie. increased risk and earlier age of pituitary adenoma
development. J. Klovins.
808S Exome sequencing in pooled DNA samples
identifies a potential candidate variant for 825T Targeted resequencing of CFH-CFHR genes
preeclampsia. T. Kaartokallio. identifies new putative functional common and rare
variants conferring susceptibility to Meningococcal
809M High burden of deleterious variants and the disease. V. Kumar.
genetic basis of speech sound disorders. H. A. Voss-
Hoynes. 826S Candidate-gene association study of sciatica. S.
Lemmelä.
810T Functional follow-up, fine mapping and haplotype
meta-analysis improve insight in findings from exome 827M Association study between NOD2 and CCDC122-
chip analyses and reveal potential novel fasting LACC1 genes and leprosy in Brazilians. C. S. Marques.
glucose associations. S. M. Willems.
828T The role of SIRT2 in human longevity: converging
811S Exome Array Analysis of Quantitative Traits evidence from gene expression, epigenetics and
related to Glaucoma. A. I. Iglesias Gonzalez. genetic variation. D. R. Mazzotti.
812M Relationship between neutrophil count, white 829S Association of IL10 variants with visceral
blood count and TCIRG1 variation. E. A. Rosenthal. leishmaniasis in Indian population. A. Mishra.
813T Identification of COPD causal variants by 830M SVEP1 c.2080A>C (p. Gln581His) gene is
combining GWAS associated SNPs, lung eQTLs, and associated with altered mortality of septic shock. T.
pathogenicity prediction tools. M. Lamontagne. Nakada.
814S Association of IRS2 gene polymorphism G1057D 831T Generalization and fine-mapping of CDKN2B-AS1
with obesity in young. M. Martinez Lopez. for primary open-angle glaucoma in African Americans
from the Epidemiologic Architecture for Genes Linked
815M Revealing the detailed MHC implication in to Environment (EAGLE) study. N. Restrepo.
seven common diseases from the WTCCC by HLA
imputation. N. Vince. 832S Associations between variants in motilin genes
and infantile hypertrophic pyloric stenosis. PA. Romitti.
816T A polymorphism in the peptidyl arginine
deiminase type IV gene (PADI4) is associated with 833M Intracranial Aneurysm Genetics: A south India
radiographic joint destruction in patients with perspective. S. Sathyan.
rheumatoid arthritis who are negative for anti-
citrullinated peptide antibody (ACPA). K. Ikari. 834T Association between IRF6 polymorphisms and
8q24region in non-syndromic cleft lip with or without
817S Risk for nonsyndromic cleft lip and palate from cleft palate in Brazilian population. L. T. Souza.
rare coding variants. K. Asrani.
835S MC4R, TMEM18, SH2B1, SEC16B and ADIPOQ
818M Screening of CDH1 mutations in a Brazilian gene variants: associations with anthropometric and
sample of nonsyndromic cleft lip / palate individuals. dietary variables in young children. M. R. Zandona.
L. A. Brito.
836M The QT-interval prolonging variant p.D85N of
819T Microsatellite (AT)n in the 3’ UTR of the CTLA4 KCNE1 associates with reduced levels of insulin after
gene is associated with coronary artery aneurysm of an oral glucose load. A. Jonsson.
Kawasaki disease. H. Chi.
837T The role of selected ion channel genes in dental
820S Interaction between PTPN2 and HLA-DRB1 SE caries. D. Lewis.
alleles in rheumatoid arthritis. M. Houtman.
838S Analysis of Haptoglobin Duplication with Type 2
821M Genetic variants of SMADs in the TGF-/SMAD Diabetes and Diabetic End Stage Kidney Disease. JN.
signal pathway are related specifically to susceptibility Adams.
to ulcerative colitis in Japanese patients. T. Inamine.
POSTER SESSIONS 119
839M Assessment of Common and Rare Variants at 853S Fine-mapping major histocompatibility complex
Established Type 2 Diabetes and Glucose Homeostasis associations in psoriasis and its clinical subtypes by
Loci for Type 2 Diabetes Risk in African Americans. J. HLA/MICA variant imputation. Y. Okada.
M. Keaton.
854M Meta-analysis on the 22q11.21 region identifies
POSTER SESSIONS
840T Detailed phenotypic analysis of lipid SNPs an autoimmune disease risk allele as associated with
reveals divergent effects of SORT1 on circulating systemic lupus erythematosus. Y. Zhang.
LDL cholesterol, plasma glucose and their respective
cardio-metabolic complications. L. A. Lotta. 855T Involvement of GTF2IRD1 in the complex hearing
phenotype of Williams-Beuren Syndrome. C. P. Canales.
841S Candidate Genes for Non-syndromic Orofacial
Clefts Identified by GWAS Were Assessed in Two 856S Genetic variant at ETS1 locus increases lupus
African Populations. A. Butali. risk and affects Stat1 binding. L. Kottyan.
842M Interaction of immune-related genetic 857M Rs738409 Polymorphism in PNPLA3 Gene is

polymorphisms and breastfeeding duration with Associated with Lower Insulin Resistance in Korean
Helicobacter pylori prevalence: the Pasitos Cohort Men. JH. Park.
Study. M. L. Grove.
858T Extended Haplotypes of controls regions of the
843T Why do some athletes with sickle cell trait suffer HLA-G are associated with type 1 diabetes mellitus. R.
from heat illness? A. C. Stone. De Albuquerque.
844S Genetic determinants of benign prostatic 859S Sequencing of the TBX6 Gene in Families with
hyperplasia: associations with prostate volume. A. Giri. Familial Idiopathic Scoliosis. E. E. Baschal.
845M Identification of significant association and 860M Association of variants in GALNT10 and related
gene-gene interactions of polymorphisms in three pathway genes with body mass index in African
inflammatory genes crp, tnf- , and lta for lower Americans. M. Stromberg.
extremity performance in community-dwelling elders
in taiwan-taichung community health study for elders 861T Targeted Sequencing of an Admixture Mapping
(tchs-e). T. C. Li. Peak in Latinos Implicates Rare Non-coding Variation
in Asthma Susceptibility. D. G. Torgerson.
846T Identification of significant association and
gene-gene interactions of polymorphisms in three 862S Replication and fine-mapping of trait-stratified
inflammatory genes tnf- , lta and il-6 for markers of genome-wide association study identifies novel
appendicular skeletal muscle mass in community- genetic associations with cytokine phenotypes in
dwelling elders in taiwan-taichung community health systemic lupus erythematosus. T. B. Niewold.
study for elders (tchs-e). L. N. Liao.
863M Refinement of association signals and residual
847S Genetic risk of rheumatoid arthritis conferred heritability in host control of HIV viral load. P. J.
by HLA-DRB1 in African Americans stratified by local McLaren.
ancestry. R. J. Reynolds.
864T Study of genetic risk factors for susceptibility to
848M The main effects and gene-gene interactions leprosy - the chromosomal region 6q25-q27 revisited.
among crp, tnf- and lta is associated with handgrip G. B. RAMOS.
strength in community-dwelling elders in taiwan-
taichung community health study for elders (tchs-e). 865S Next-generation sequencing and targeted
F. Y. Wu. fine linkage disequilibrium mapping reveal FREM1
mutations associated with HIV acquisition in a sub-
849T A gene-gene interaction in a shared Alzheimer Saharan African cohort of female sex workers. J. F.
disease/age-related macular degeneration pathway. Tuff.
M. W. Logue.
866M The Role of ALDH7A1 in Body Composition
850S Targeted regulome sequencing reveals common, among West Africans. A. R. Bentley.
rare, and private regulatory variants associated with
fetal adiposity. C. Guo. 867T Targeted sequencing of GWAS loci: insight into
genetic etiology of cleft lip and palate. E. J. Leslie.
851M Genome-wide Sequencing to Identify Novel
Variants for Obesity in Pima Indians. K. Huang. 868S Integrating functional data to prioritize causal
variants in statistical fine-mapping studies. G. Kichaev.
852T Fine-mapping eGFR susceptibility loci through
trans-ethnic meta-analysis. A. Mahajan. 869M Analysis of genes involved in carnitine
metabolism and functions in autistic patients by
targeted sequencing. J. Ge.
120 POSTER SESSIONS
870T Genetic contributions to obesity and metabolic 885T Nicastrin knockdown in keratinocytes induces
risk in Mexican-American children. R. J. Mudgway. expression profiles for decreased expression of cell
cycle genes and increases gene expression related to
871S The analysis of MC1R polymorphisms can be type-1 interferon response. E. D. O. Roberson.
used as a tool to predict complex phenotypes, such
as skin and hair color in Brazilian population? F. 886S Functional study of Peptidylarginine deiminase
Goncalves. type 4 as genetic risk factor for RA. A. Suzuki.
872M Genetic risk variants for body mass index 887M Functional characterization of a TERT-CLPTM1L
are associated with decreased excessive daytime multi-cancer risk locus on chr5p15.33. L. Amundadottir.
sleepiness in 9,832 individuals of European ancestry
from NHLBI cohorts. J. M. Lane. 888T Functional BDNF gene variants increase risk to
moderate-severe allergic rhinitis (AR). AK. Andiappan.
873T Promoter Polymorphism and low Serum Levels of
Mannose Binding Lectin as risk factor for Rheumatoid 889S A non-coding variant near BMP2 associated
Arthritis in Indian population. A. Sodhi. with sagittal non-syndromic craniosynostosis causes
differential GFP expression in zebrafish. C. M. Justice.
874S Carboxypeptidase E and dopamine transporter
SNPs are associated with percent weight change in 890M Functional Investigation of Celiac Susceptibility
kidney transplant recipients. A. G. Stanfill. Gene LPP in T Cells. B. Molloy.
875M Candidate gene association study of chronic 891T Why do Genetic “Risk Factors” for Major
obstructive pulmonary disease using a targeted high Diseases not Always Negatively Affect Survival? S.
throughput sequencing approach. J. Klar. Ukraintseva.
876T SNP variants in MHC are associated with 892S Disruption of the CTNND2 gene causes learning
sarcoidosis susceptibility and subgroups - a joint problems within the dyslexia spectrum. A. Lindstrand.
case-control association study in four European
populations. A. Wennerström.
893M Genetic and phenotypic correlations between
surrogate measures of insulin release obtained from
877S Assessment of LGALS3 genetic variants rs4644, oral glucose tolerance test data. A. P. Gjesing.
rs4652, rs2075601 and galectin-3 levels as risk factor
in Rheumatoid Arthritis. T. Kaur.
894T Potential Transcriptional Mediators for
Established Type 2 Diabetes Variants in Southwestern
878M Genetic association study between 39 genes American Indians. R. L. Hanson.
and nonsyndromic cleft lip and cleft palate in Brazilian
population. TK. Araujo.
895S A common Greenlandic TBC1D4 variant confers
muscle insulin resistance and type 2 diabetes. I.
879T Exome sequencing and targeted DNA Moltke.
resequencing reveals association of the MYO5B SNP
rs183559995 with risk of Familial Nonsyndromic Cleft
896M The Type 1 Diabetes Susceptibility Gene
Lip and Palate. S. Beiraghi.
CLEC16A encodes protein which restrains NK Cells
function. R. Pandey.
880S Rare Variants Within 7p Region Associated with
Carotid Bifurcation Intima-Media Thickness Among
897T Understanding genetic interactions underlying
Dominican Republic Families. N. D. Dueker.
type I diabetes based on chromatin interactions and
across-pathway interactions. MK. Sung.
881M No association of PTPN22 and SUMO4
Polymorphisms with predisposition to type 1diabetes
898S DIO2 rSNPs, transcriptional factor binding sites
(T1D) in a cohort of south Indian subjects. B. C.
and disease. N. Buroker.
Gorijala.
899M Harnessing genome engineering to characterize
882T Evaluation of Genetic Polymorphism of MBL2
the role of STRs in gene regulation. D. Zielinski.
Gene and Pulmonary Function Test in Chronic
Obstructive Pulmonary Disease. A. Sharma.
900T Functional genomics of the costimulatory locus
in autoimmune disease. L. Petukhova.
883S Age-related hearing impairment associated
with GJB2 single mutation IVS1+1G>A in the Yakut
901S Allele specific chromatin interaction of 9p21
population in Eastern Siberia. N. A. Barashkov.
endometriosis risk locus regulates expression of
ANRIL. H. Nakaoka.
884M Enzymatic properties of the catalytic domain
of mouse acidic mammalian chitinase expressed in
902M A Genomewide Association Study of Alcohol
Escherichia coli. A. Kashimura.
Dependence in the Irish Affected Sib Pair Study of
Alcohol Dependence. B. P. Riley.
POSTER SESSIONS 121
903T eMERGE Phenome-Wide Association Study 919S Epigenetic effects of environmental enrichment
(PheWAS) Identifies Clinical Associations and and EGCG treatment on a mouse model of Down
Pleiotropy for Functional Variants. A. Verma. Syndrome. C. N. Hor.
904S Lupus associated coding polymorphism 920M The Molecular Convergence of non-HLA
POSTER SESSIONS
rs1143679 within ITGAM acts in both nucleotide and Ankylosing Spondylitis Risk Genes with Autoimmune
protein level to develop disease phenotypes. A. K. Diseases. D. O’Rielly.
Maiti.
921T Characterizing the Nphp10 (Sdccag8Tn(sb-
905M Host genetic variation and Kaposi’s Sarcoma- Tyr)2161B.CA1Cove) mouse model. K. Weihbrecht.
associated herpesvirus infection. N. Sallah.
922S Transcriptome analysis of differentially expressed
906T Studying the effects of pubertal timing- isoforms in hypertrophied cardiomyocytes derived
associated gene LIN28B on early vertebrate from human iPSCs using RNA-Seq. W. Li.
development using zebrafish as a model. J. T. Leinonen.
923M Maternal effects influence the heritability of adult
907S Microglia deficiency in TREM2 R47H carriers with obesity traits but not obesogenic growth trajectories in
familial late onset Alzheimer disease. E. Korvatska. a model system. C. A. Schmitt.
908M Functional study of a novel unexpected 924T The Genetic Landscape of Hematopoietic Stem
interferon-responsive gene, GRAMD1B, identified in Cells. H. Allayee.
Multiplex MS families. F. Martinelli Boneschi.
925S Genotyping-by-sequencing in outbred CFW mice
909T The causal basis of Hirschsprung disease risk: yields a powerful approach for genome-wide mapping
functional consequences of polymorphisms in two RET of complex trait loci. P. Carbonetto.
shadow enhancers. S. Chatterjee.
926M An APP, BACE expressing C. elegans model of
910S Functional regulatory assessment of the APOL1 Alzheimer’s disease. K. N. Ly.
kidney disease risk variants. P. An.
927T Characterization of neuronal development in
911M Four regulatory variants alter protein binding and autism using induced pluripotent stem cells reveals
contribute to transcriptional activity at the ANGPTL8 disease-specific changes in neurite outgrowth and
HDL-C GWAS locus. M. E. Cannon. expression of synaptic function genes. B. A. DeRosa.
912T The expression of adipokines in the peripheral 928S Association of Age-related Macular Degeneration
blood leukocytes of young patients with myocardial (AMD) Susceptible Genes with Second Eye
infarction. R. Richterova. Involvement of AMD. M. Miyake.
913S An atopy-associated variant in the 11q13.5 locus 929M Nasopharyngeal microbiome composition is
regulates promoter activity. J. Manz. associated with lung function in adult Hutterites. C.
Igartua.
914M Obesity and metabolic disorders in children as
part of the Reward Deficiency Syndrome: association 930T Hematopoeitic stem cells target neovascular
with the SNP TaqIA C32806T of DRD2 gene. R. M. Pinto. tissue in a novel preclinical model of proliferative
diabetic retinopathy. K. Wert.
915T The International Genomics and Translational
Research in Transplantation Network (iGeneTrain). J. 931S The Role of Copy Number Variants in Latino
van Setten. Children with Asthma. M. L. Spear.
916S Repair activity of primate-specific alternative 932M Family-based Associations and Parent of Origin
single-stranded DNA binding protein aRPA may analyses reveal novel associations with inflammatory
explain brain-region repeat instability in CAG/CTG bowel disease (IBD). X. YAN.
trinucleotide repeat diseases. J. Luo.
933T Parent-of-origin effects of the APOB gene on
917M Novel Indoleamine 2, 3-Dioxygenase (IDO) gene adiposity in young adults. H. Hochner.
mutation in the Pathogenesis of age-related cataract.
P. Gunda. 934S Heritability explained by common SNPs for
dietary intake: genome-wide analysis in three US
918T Genetic Variants Concomitantly Influence cohorts. Q. Qi.
Nonalcoholic Fatty Liver Disease and Correlated
Metabolic Traits. M. F. Feitosa. 935M The role of STRs in shaping complex traits. T.
Willems.
122 POSTER SESSIONS
936T Regulatory variants explain much more 952S Systematic genome-wide microbiome
heritability than coding variants across 11 common association analysis in the Northern-German
diseases. A. Gusev. population identifies genetic variation that impacts
microbial diversity in the gut. A. Franke.
937S Haplotypes explain additional heritability of
complex traits. G. Bhatia. 953M Identification of Susceptibility Loci for Crohn’s
Disease in Koreans through Immunochip. M. Hong.
938M Heritability Estimates and Genetic Association
for 60+ Complex Traits in a Young Healthy Sibling 954T Pathway Based Genome-Wide Association
Cohort. Q. Ma. Studies Reveal the Association between Growth Factor
Activity and Inflammatory Bowel Disease. C. Kim.
939T Additive and epistatic effects of enhancer
variants at GWAS risk loci. O. Corradin. 955S Whole-genome imputation identified 3 suggestive
loci for inflammatory bowel disease in a Japanese
940S The genetics of exceptional human longevity: population. K. Yamazaki.
new clues from big data on disease. K. Fortney.
956M Genome-wide and exome chip study of
941M A meta-analysis of genome-wide association subcutaneous and visceral adipose tissue reveals
scans for nevus count reveals PPARGC1B as affecting novel gender-specific adiposity loci in Hispanic
both moliness and melanoma risk. N. G. Martin. Americans: The Insulin Resistance Atherosclerosis
Family Study (IRASFS). C. Gao.
942T Identification of 4 novel susceptibility loci for
intracranial aneurysms in Portuguese using a pooling- 957T Meta-analysis of macronutrient intake in over
based GWAS. P.CS. Abrantes. 64,000 individuals using 1000 Genomes imputed
genotypes confirms the association of FGF21 with
943S A GWAS of Risk Genes for Birth of a Child With composition of dietary intake and suggests potential
Down Syndrome. E. Feingold. tissue-specific effects in liver and skeletal muscle. A.
Y. Chu.
944M Genome-wide Association Study, Meta-Analysis
and Linkage Study of Gamma-Prime Fibrinogen 958S Genome-Wide Association Study Identifies Novel
Plasma Levels in a Healthy Young Cohort. A. Ozel. Genetic Determinants of Emphysema Distribution
Patterns. A. El Boueiz.
945T SORBS1 gene, a new candidate for diabetic
kidney disease: results from a multi-stage genome 959M Heritability and locus susceptibility in age-
wide association study. M. Germain. related macular degeneration varies by clinical
phenotypes. L. Shen.
946S Polymorphism upstream of cryopyrin gene
(NLRP3) is associated with severe retinopathy in type 1 960T Genome-Wide Association Study of Serum
diabetes. S. Hosseini. Sodium Concentration in Han Chinese Population
residing in Taiwan. I. Song.
947M Genome-wide meta-analysis identifies novel
variants associated with fasting plasma glucose in 961S Y Chromosome degradation and male longevity
East Asians. J. Hwang. in the Long Life Family Study. M. Bailey.
948T A Genome-wide Association Study of Apnea- 962M Genetic admixture and proliferative diabetic
Hypopnea Index in Children with Obstructive retinopathy in Latinos. X. Gao.
Breathing. r. pellegrino.
963T GWAS of 89,283 individuals identifies genetic
949S The Association between Genetic Markers for variants associated with being a morning person. Y.
Type 2 Diabetes and Carnitines: A Replication of Adult Hu.
Findings in a Neonatal Population. CJ. Smith.
964S Genome-wide Copy Number Scan Identifies
950M A genome-wide association analysis of scarring Involvement of IRF6 in an Indian Family with Van der
trachoma in rural Gambia. C. S. Franklin. Woude Syndrome. D. S. Manjegowda.
951T Genetic variation predicts serum lycopene 965M Genetic determinants of healthspan - analysis of
concentrations in multi-ethnic population of Wellderly dataset. W. Sikora-Wohlfeld.
postmenopausal women. N. Zubair.
966T Adjusting for heritable covariates can bias effect
estimates in genome-wide association studies. H.
Aschard.
POSTER SESSIONS 123
967S Meta-analysis of genome-wide association 982S Genome-wide association study of comorbidity
studies in alopecia areata reveals new susceptibility of alcohol and nicotine dependences. J. Jung.
loci and resolves HLA associations. R. Betz.
983M Mapping variation in response to vitamin D in the
968M Examining the genetic basis of variation in sitting immune system. S. N. Kariuki.
POSTER SESSIONS
height ratio (SHR) using population cohorts. Y. Chan.
984T Comparing of GWAS data for the personality in
969T Six novel loci associated with VEGF circulating four Korean cohort. B. Kim.
levels identified by a meta-analysis of genome-wide
association studies. S. Choi. 985S Genome-wide association study (GWAS) of atopic
dermatitis in Korean children. K. W. Kim.
970S Genome-Wide Association Study in Different
Stages of Clinical Progression of Alzheimer Disease. 986M The genetic landscape of pediatric autoimmune
J. Chung. diseases. Y. R. Li.
971M Genome-wide association studies for dental 987T Genomewide association study identifies six
caries in African American and Latino populations: novel loci associated with plasma carnitine levels. H.
Novel genes, heterogeneity, and replication. J. Li.
Colavincenzo.
988S CLEC16A associates with human common
972T Genetic determinants of normal human facial variable immunodeficiency and influences murine B
variation. J. B. Cole. cell survival and function. J. Li.
973S Contribution of common polygenic variation 989M Common variants near ABCA1, AFAP1 and
captured by the Immunochip to celiac disease GMDS confer risk of primary open-angle glaucoma. S.
heritability in an independent Irish population. C. Macgregor.
Coleman.
990T CTNNA3 and SEMA3D: Promising loci for asthma
974M Genetic insights into primary biliary cirrhosis exacerbation identified through multiple cohorts. M.
- an international collaborative meta-analysis and McGeachie.
replication study. H. J. Cordell.
991S Genome-wide association study of exfoliation
975T A Genome Wide Association Study of peanut syndrome/exfoliation glaucoma in a Japanese
sensitisation in the Manchester Asthma and Allergy population. M. Nakano.
Study. J. A. Curtin.
992M Genome-wide association study identifies two
976S A genome-wide association study identifies distinct risk haplotypes at LBX1, and links ITPR1 and
a LEPR gene as a novel predisposing factor for SOX5 to adolescent idiopathic scoliosis. L. Nelson.
childhood FPG. M. GO.
993T Genome-wide association of 44,714 subjects
977M Comprehensive curation and visualization of of African ancestry imputed to the 1000 Genomes
ethnicity information from published genome-wide reference panel identified two novel loci influencing
association studies (GWAS): an improved GWAS body mass index. M. C. Y. Ng.
Catalog. L. A. Hindorff.
994S The Genetics of Erectile Dysfunction Risk in Men
978T Variants within ADAMTS9-AS2 influence with Type 1 Diabetes. M. R. Palmer.
fingerprint patterns. Y.YW. Ho.
995M Common genetic variation explains a substantial
979S Genome-wide association and local ancestry fraction of nicotine and cotinine glucuronidation in
analyses of high-altitude adaptations in Tibetans. C. multiple populatons. Y. M. Patel.
Jeong.
996T Search for new risk gene for Stevens-Johnson
980M GWAS meta-analysis of primary sclerosing Syndrome independent of HLA risk allele. H. Sawai.
cholangitis identifies new disease loci and further
clarifies the genetic relationship with inflammatory 997S Investigation of genetic variation underlying
bowel disease. S. Ji. central obesity among Indian Asians. W. R. Scott.
981T Integrated analysis of known height association 998M Common variants at c11orf30 and CAPN14 are
signals with novel signals from an East Asian GWAS associated with eosinophilic esophagitis. P. M. A.
decodes the genetic architecture of height through Sleiman.
in silico functional candidate prioritization and gene
network analysis. T. A. Johnson. 999T Genome-wide association study imputed to 1000
genomes identifies novel loci associated with lung
function. M. Soler Artigas.
124 POSTER SESSIONS
1000S Family based association study for pulmonary 1017T Menopausal age shares a common genetic
function in North-east Asian population. H. Y. Son. background with diabetes and lipid traits: a study on
13.484 Finns. A. Joensuu.
1001M Genome-wide association study implicates
LEKR1 at 3q25.31 and an intergenic region at 8q24.21 1018S eSNP regulators of genes underlying Mendelian
in Primary Spontaneous Pneumothorax risk. I. Sousa. diseases are enriched among T2D-associated variants.
J. Torres.
1002T Genomewide association for rotator cuff
disease identifies two significant SNPs. C. C. Teerlink. 1019M Association analysis of a SLC16A11 variant
with type 2 diabetes in 12,811 American Indians and
1003S A genome-wide meta-analysis of hyper- and evidence for its association with RNASEK expression.
hypothyroidism and thyroid function. A. Teumer. M. Traurig.
1004M Genome-wide Mega-Analysis on Myopia and 1020T Asthma susceptibility genetic variants are
Refractive Error in CREAM and 23andMe. V. J. M. more strongly associated with phenotypically similar
Verhoeven. subgroups of patients. E. Lavoie-Charland.
1005T Genetic discovery in the 23andMe participant 1021S Pooled targeted resequencing to identify
cohort. D. A. Hinds. genomic variants associated with crohn’s disease in
Korea. C. Park.
1006S A genome-wide regulatory haplotype analysis of
asthma. D. C. Croteau-Chonka. 1022M Association of HLA-DPB1 alleles with CHB
infection and HBV related HCC in Asia. N. Nishida.
1007M Genetic analysis of central serous
chorioretinopathy and polypoidal choroidal 1023T New mutations in the MYOC gene in
vasculopathy. J. Ahn. patients with juvenile open-angle glaucoma. J. P. C.
Vasconcellos.
1008T Known Age-Related Macular Degeneration
Risk Variants Are Not Associated with Rapid Disease 1024S Association of ADIPOQ rs266729, rs17300539,
Progression or Good Treatment Response. M. D. rs2241766 and rs17846866 with Type 2 Diabetes and
Courtenay. Diabetic Retinopathy in North-West Indian population.
A. Bhanwer.
1009S Large association study of exonic variants in
idiopathic achalasia. J. Becker. 1025M More evidence for association of a rare TREM2
variant (R47H) with Alzheimer’s disease risk. S. L.
1010M Identification of novel and rare coding variants Rosenthal.
associated with free fatty acids and serum fatty acid
profile. X. Sim. 1026T The IL10 ACA haplotype is associated with
rheumatoid arthritis in patients from Western Mexico.
1011T Replication of the association signals of J. Hernandez-Bello.
thyrotoxic periodic paralysis (TPP) at chromosome
17q24.3. P. Chen. 1027S Serum Uric Acid Levels Are Associated with
Polymorphism in the SLC2A9, SF1 and GCKR Genes in
1012S The PhenX Toolkit: A Genomic Resource for Chinese Subjects. C. Hu.
Standard Measures of Phenotypes and Exposures. W.
Huggins. 1028M Transferrin receptor and hereditary
hemochromatosis gene variants interact to modify
1013M Analysis of Interleukin 10 haplotypes with childhood leukemia risk. A. E. Kennedy.
soluble IL-10 levels and autoantibody production in
Mexican patients with primary Sjögren’s syndrome. M. 1029T Pro12Ala polymorphism in PPARG gene in
Vázquez-Villamar. mexican patients with systemic lupus erythematosus.
G. M. Mimendi Aguilar.
1014T Large scale meta-analysis of 1000G imputed
genotypes in 95,061 subjects reveals 7 novel loci for 1030S Quantification of Hirschsprung disease
loss of kidney function. M. Gorski. susceptibility from common polymorphisms in relation
to gender, segment length of aganglionosis and
1015S Association analysis of PPARG (p.Pro12Ala) familiality. A. Kapoor.
polymorphism with type 2 diabetic retinopathy in
patients from north India. N. Kaur. 1031M Association between common variant near
CAV1 and CAV2 genes and phenotypic features of
1016M To study the association of -106 C/T primary open-angle glaucoma. F. Mabuchi.
polymorphism in the aldose reductse (AKR1B1) gene
with diabetic retinopathy. V. Kumar. 1032T GSTT1 and GSTM1 gene frequency in Punjabi
population exposed to pesticides. M. Ahluwalia.
POSTER SESSIONS 125
1033S Relationships between genetic ancestries and 1048S Genome wide gene-vitamin D interaction
nicotine and tobacco carcinogen metabolisms in the analysis suggests potential role for melanoma related
Multiethnic Cohort. H. Wang. genes in Parkinson disease. L. Wang.
1034M Haplotype association and synergistic effect 1049M Smoking Then and Now: What Can the
POSTER SESSIONS
of Renin-angiotensin aldosterone system gene Aggregate of Genome-wide SNPs Tell Us About the
polymorphisms causing susceptibility to essential Correspondence of Genetic Factors Influencing
hypertension in Indian patients. C. Bhupatiraju. Cigarette Smoking Initiation Between Birth Cohorts.
A. G. Wills.
1035T Genetic variation and Insulin Resistance in
middle age Chinese men. r. villegas. 1050T Risk prediction and Type II Diabetes. N. Furlotte.
1036S EWAS to GxE: A robust strategy for detecting 1051S Investigate cytokine levels of cord blood
gene-environment interaction models for age-related samples in related to maternal allergic status. H. Tsai.
cataract. M. A. Hall.
1052M Estrogen-dependent upregulation of IRF5 in
1037M Polygenic and Localized Genotype by Diabetes human immune cells. S. E. Lofgren.
Duration Interaction Effects on Gene Expression. J. W.
Kent. 1053T Genetic and early life environmental influences
on body mass index. A. Smith.
1038T MS Risk Conferred by Obesity may be
Independent of Predisposing Genetic Factors for 1054S A new GATK framework for RNA-seq variant
Obesity: Results from the Kaiser Permanente MS discovery identifies differential A-to-I RNA editing in
Research Program. M. Gianfrancesco. autistic brains. A. Eran.
1039S Congenic analysis reveals a gene-stress 1055M Risk Prediction for Age-Related Macular
interaction affecting obesity in mice. S. M. Clee. Degeneration Using Genetic and Environmental
Factors. W. Wu.
1040M Genetic Interactions in Developing of
Rheumatoid Arthritis. L. M. Diaz-Gallo. 1056T Study of genetic polymorphism and oxidative
stress markers analyses in psoriasis patients from
1041T Smoking-dependent genetic effects on Indian. S. Chettiar.
obesity traits: the GIANT (Genetic Investigation of
Anthropomorphic Traits) Consortium. V. A. Fisher. 1057S Multiscale Analysis of Chronic Fatigue
Syndrome. N. D. Beckmann.
1042S Tomato consumption, an anecdotal trigger of
gout flares, interacts with three urate transporters 1058M Genetic influences common to bronchial
(ABCG2, SLC22A12 and SLC22A7) in a non-additive asthma and pulmonary tuberculosis present targets for
fashion to influence serum urate. T. Flynn. intervention. R. C. McEachin.
1043M Preliminary evidence of an interaction between 1059T Identification of a Common Pathogenesis for
a polymorphism in the BDKR2B gene and the dietary Chronic Kidney Disease: Perspectives from Gene
potassium intake on the systolic blood pressure in a Ontology analysis. W. Wu.
sample of healthy adults. J. Giovanella.
1060S Pathway Burden Analysis Identifies Genes
1044T Genome-wide gene-physical activity interaction Underlying Complex Human Limb Disorders. D.
study of BMI and waist-hip ratio in 180,418 individuals. Alvarado.
T. O. Kilpeläinen.
1061M Integrative Analysis of Transcriptomic and
1045S Association of physical activity with lower Epigenomic Data to Reveal Regulation Patterns for
type-2 diabetes incidence is weaker in those with high Osteoporosis. J. G. Zhang.
genetic risk. Y. C. Klimentidis.
1062T The Brainstorm project; a cross-phenotype
1046M Genome-wide scan for context-dependent analysis of 14 brain disorders by heritability-,
marker SNP effects in coronary heart disease. S. M. constraint- and pathway-based methods, using
Raj. genome-wide association data from 500,000 samples.
V. Anttila.
1047T Utility of the rhesus macaque (Macaca mulatta)
as a novel genetic model for spontaneous human 1063S RAI1 is a multi-hit regulator of obesity gene
inflammatory bowel disease (IBD): sexual dimorphism expression networks. J. T. Alaimo.
and gene-by-sex effects on chronic diarrhea. A. Vinson.
1064M Uncovering the pairs of tissue-epigenetic mark
which are relevant for a trait. T. Bigdeli.
126 POSTER SESSIONS
1065T Network analysis to identify human genes 1082M Beyond GWAS: Probing the landscape between
influencing susceptibility to Mycobacterium pathway associations, genome-wide associations
tuberculosis and Nontuberculous mycobacteria and protein-protein interaction networks in Chronic
infection. E. M. Lipner. Obstructive Pulmonary Disease. M. McDonald.
1066S Reevaluating the clinical delineation of 1083T Systemic effects of genetic variation on gene
inflammatory bowel disease using genetic and expression. D. Plichta.
subphenotype data. L. Jostins.
1084S Pathway analyses of extreme age-related
1067M Integration of diverse genomic datasets macular degeneration phenotypes using whole exome
identifies novel pathways and key regulatory networks sequencing data. R. J. Sardell.
for type 2 diabetes and related traits. L. Shu.
1085M Exome variants underneath linkage peaks
1068T Using random forests to identify genetic links in multiplex Sardinian multiple sclerosis pedigrees
between Alzheimer’s disease and type 2 diabetes. B. implicate genes with roles in autoimmunity and
Darst. neuroinflammation. A. Hadjixenofontos.
1069S Clusters of urate transporter genes as genetic 1086T Family-Based Linkage Analysis of Coding
biomarkers in the early detection, diagnosis and Variants with Cardiometabolic Traits in the Diabetes
prediction of gout. C. Chung. Heart Study. L. M. Raffield.
1070M Identification of novel predisposing genes in 1087S Identification of Juvenile Myoclonic Epilepsy
neural tube defects by whole exome sequencing in Loci in Chromosomes 16p13.3, 13q31.1 and 4q35.2
multiplex families. P. Lemay. in Honduran Families: Linkage to Epilepsy and
Encephalography Traits. Y. Lin.
1071T The Genetic Architecture of Age-Related
Macular Degeneration in the Amish. J. D. Hoffman. 1088M Candidate high-penetrance locus for myopia
identified on chromosome 7 using linkage and family-
1072S Genome-wide profiling of gene expression based association analyses of exome chip data in 3
and DNA methylation changes in Alzheimer’s disease U.S. populations. J. E. Bailey-Wilson.
brains. M. Allen.
1089T Linkage-based Analytical Approaches with
1073M Heterogeneous Network Link Prediction GWAS Data to Localize Variants Underlying Complex
Prioritizes Disease-Associated Genes. D. Himmelstein. Traits. N. D. Palmer.
1074T Expression pathway analysis for genes 1090S Meta-analysis of birth weight genome-wide
associated with rheumatoid arthritis. K. Shchetynsky. association studies identifies five novel loci extending
links between early growth and adult metabolic
1075S Stratified enrichment test for dissecting diseases. M. Horikoshi.
colocalized genomic annotations to fine-map complex
trait variants. G. Trynka. 1091M Runs of homozygosity reveal inbreeding
depression on cognitive function and stature. P. K.
1076M Transcriptional Analysis of Sepsis Patients Joshi.
Reveals Differential Expression Patterns. D. L.
Dinwiddie. 1092T Population-wide linkage screen for successful
aging in the Amish. J. E. Hicks.
1077T Analysis of Endosomal Trafficking and Protein
Recycling Genes in Parkinsonism. E. K. Gustavsson. 1093S Simple Linkage-Based Methods to Identify
Cardiometabolic Risk in Families. J. N. Hellwege.
1078S Transcriptome analyses of patient-specific
induced pluripotent stem cell (iPSC) derived neural 1094M Linkage and association mapping for
stem cells implicate neurodevelopmental pathways osteoarthritis progression in the Genetics of
involved in Tourette Syndrome. N. Sun. Generalized Osteoarthritis Study. M. S. Yau.
1079M Liver-specific long non-coding RNAs and its 1095T Using monogenic phenotypes to identify
association with liver disease. J. Fu. mechanisms of GWAS variants associated with insulin
resistance. H. Yaghootkar.
1080T The Effects of Genetic Perturbation on Networks
of Phenotypes in Complex Diseases. J. Chu. 1096S Copy number of the salivary amylase gene
AMY1 modulates serum amylase levels and is
1081S Mediation effect of eQTLs reveals trans- associated with the metabolic profile. J. S. El-Sayed
regulation of gene expression in complex disease Moustafa.
traits. C. Yao.
1097M Accurate molecular prediction in inflammatory
bowel disease. H. Huang.
POSTER SESSIONS 127
1098T Improving the Power of Genetic Association 1114S Excess of Runs of Homozygosity is associated
Tests with Imperfect Phenotype Derived from with severe cognitive impairment in Intellectual
Electronic Medical Records. J. A. Sinnott. Disability. I. Gandin.
1099S Use of diverse electronic medical record 1115M Impact of genetic burden on the age at onset
POSTER SESSIONS
systems for a genomewide association study of in bout-onset and progressive multiple sclerosis. M.
colonic diverticular disease in European-ancestry Sorosina.
populations. M. G. Hayes.
1116T Association of Mitochondrial DNA levels with
1100M Comparative Analysis of Electronic Health Frailty and All-Cause Mortality. F. N. Ashar.
Record (EHR)-driven and Conventional Cohort-driven
Genomic Research. V. Thaker. 1117S Significant role of height-associated variants in
the variation of intracranial volume. R. Shafee.
1101T UK BiLEVE, the first genetic study in UK
Biobank, identifies novel regions associated with 1118M MultiBLUP: Improved Prediction for Complex
airway obstruction phenotypes using a custom Traits. D. Speed.
genome-wide array in 50,000 individuals. L. V. Wain.
1119T Hair e-QTLs - delineating the genetic basis
1102S APOL1-associated kidney disease risk and of gene-expression in human hair follicle and its
hypertension management in primary care - A project implication for the interpretation of hair loss disorders.
of the IGNITE Network (Implementing GeNomic S. Heilmann.
medicine In pracTicE). N. S. Abul-Husn.
1103M Mendelian Randomization study of body mass Psychiatric Genetics, Neurogenetics

index/waist hip ratio-associated SNPs and five cancer
types. C. Gao.
and Neurodegeneration
1104T Distinct differences in HLA genotypes for latent 1120S Next generation sequencing approaches for
autoimmune diabetes in adults (LADA) and type 1 the identification of novel genes in spinocerebellar
diabetes within the same extended pedigree. K. J. degeneration. M. Coutelier.
Basile.
1121M Homozygosity mapping and candidate gene
1105S Like Mother, Like Daughter: Analysis of Parent- screening in Attention Deficit/Hyperactivity Disorder
Child Phenotypic Correlations for Hundreds of Medical (ADHD) in Highly Inbred Saudi Arabian Families. F.
and Behavioral Traits. E. Pierson. Alnaemi.
1106M Robust microRNA expression upregulation 1122T Linkage analysis, homozygosity mapping and
exists in inflammatory bowel disease. S. Ben-Shachar. whole exome sequencing to identify new genes in
consanguineous families with juvenile myoclonic
1107T KinGen: a partnership of high kinship population epilepsy. B. ouled amar bencheikh.
resources. J. F. Wilson.
1123S Genetic characterization of a homozygous 9p
1108S Meta-Analysis of Glaucoma Genome-Wide deletion in a patient with hyper IgE syndrome and
Imputed Datasets. J. N. Cooke Bailey. progressive multifocal leukencephalopathy supports
deficiency of DOCK8 as a causal factor for both
1109M Influence of BMI- and lipid-associated variants diseases. C. Sun.
on longitudinal phenotypes. R. M. Salem.
1124M Next-generation sequence analysis of
1110T ABCG2 dysfunction causes renal underexcretion neurodegeneration on Guam. I. Guella.
hyperuricemia as well as renal overload hyperuricemia.
H. Matsuo. 1125T Sex differences in neuropsychiatric expression
of rare deletions overlapping schizophrenia
1111S Coherent Somatic Mutation in Autoimmune susceptibility gene ZNF804A. C. Lowther.
Disease. K. A. Ross.
1126S Clinically Relevant Candidate and Known Genes
1112M Secular change in 13 metabolic phenotypes: A for Alcoholism with Representation on High Resolution
Chinese longitudinal twin study. S. Li. Chromosome Ideograms. A. M. Manzardo.
1113T Latent variable adjustment of NIH Epigenomics 1127M Association analysis of HLA-DQB1 gene
Roadmap ChIP-seq data for utilization in tissue- with narcolepsy without cataplexy and idiopathic
specific polygenic analysis of type II diabetes in the hypersomnia. T. Miyagawa.
DIAGRAMv3 GWAS meta-analysis. A. L. Dobbyn.
128 POSTER SESSIONS
1128T Targeted Sequencing of Candidate Genes 1146T Distinct genetic variants in Alzheimer’s disease,
Identified with Exome sequencing in Multiplex Autism Parkinson’s disease and type 2 diabetes. S. J. Chung.
Families. A. Patowary.
1147S Defects of ARHGAP36 in patients with
1129S Further evidence for DLGAP2 as an ASD/ ID developmental delay and autism. S. Fan.
candidate gene. H. Poquet.
1148M HIV-related cognitive impairment shows
1130M Structural equation models of communication association with polymorphisms within the
endophenotypes suggest that human vocalized speech dopaminergic system in substance dependent and
has a polygenic basis. C. M. Stein. independent populations. M. M. Jacobs.
1131T Second thought about 16p12.1 microdeletion 1149T HLA-DRA is strongly associated with
syndrome: is two-hit a valid model? F. Boyar. Parkinson’s disease in Iranian population. J. Jamshidi.
1132S DUF1220 domain copy number is linearly 1150S Ancestral haplotypes of BHLHE40 in non-24-
associated with increased speech delay in individuals hour rhythms and bipolar disorder. D. F. Kripke.
with autism. J. M. Davis.
1151M MAPT non-coding variation in
1133M First report on a multiplex, consanguineous, neurodegenerative disorders. C. Labbé.
family with autism and chromosome 15 duplication. H.
Mansour. 1152T 9.6% of mouse gene knockouts show abnormal
neuroanatomy: a resource to identify genes related to
1134T Screen for somatic mosaic mutations in intellectual disability in human. A. Mikhaleva.
unexplained Dravet syndrome patients. CT. Myers.
1153S Homozygous deletions of non-coding
1135S Genome-wide linkage analyses of non-Hispanic transcriptional control sites in autism spectrum
White families identifies several novel loci for familial disorder. K. Schmitz-Abe.
late-onset Alzheimer’s disease. J. Jaworski.
1154M VGF as a potential target for Night Eating
1136M Microsatellites in the 5’ flanking region Syndrome. G. J. Wyckoff.
of AVPR1A were associated with social behavior
scales of autism spectrum disorders in the Korean 1155T Association of HTR2C gene variants with
population. J. Park. suicidal behavior: A case-control study and meta-
analysis. C. A. Tovilla-Zárate.
1137T X-Chromosomal genetic and epigenetic factors
in the etiopathogenesis of ADHD. J. Kapalanga. 1156S Replicative association analysis of
schizophrenia in Russian population of Siberian region.
1138S Personality Genetics and Health in Super A. Bocharova.
Seniors. J. M. T. Nelson.
1157M GABAergic interneuron origin of Schizophrenia
1139M Gene-based pleiotropy across five major - a genetic association analysis in South Indian
psychiatric disorders. D. R. Nyholt. population. KR. Saradalekshmi.
1140T Fine mapping of schizophrenia risk locus 1158T Parsing genetic associations in the MHC in
CSMD1 (rs10503253) in Indonesian samples revealed schizophrenia. S. Mukherjee.
association with indels. D. B. Wildenauer.
1159S Common and rare genetic risk factors
1141S Transethnic HLA comparison in narcolepsy. H. converge in protein interaction networks underlying
M. Ollila. schizophrenia. X. Chang.
1142M Comparative sequencing of the PARK2/ 1160M Alzheimer’s Disease: Analyzing the Missing
PARCRG/QKI locus in Early Onset Parkinson’s disease. Heritability. K. L. Hoyt.
W. C. Macedo.
1161T Probing the shared polygenic underpinnings
1143T Strategies for identifying new genes in of anorexia nervosa and five other major psychiatric
autosomal recessive Parkinson’s disease. S. Lesage. disorders. L. M. Huckins.
1144S Could somatic copy number alterations 1162S Genes regulated by epigenetic mechanisms
contribute to sporadic Parkinson’s disease? C. in determining general intelligence (g) are over-
Proukakis. represented in disorders that affect cognition. P. Cha.
1145M Whole-genome sequencing to identify genes 1163M Novel Locus in 15q23 Implicated in Recovery
implicated in Familial Parkinsonian Tauopathy. M. after Severe Traumatic Brain Injury. Y. P. Conley.
Sanchez-Contreras.
POSTER SESSIONS 129
1164T Long non-coding RNAs associated with synapse 1181M Genome-Wide Association Study in APOE 4
are differentially expressed in autistic bloods. W. Ju. Negative Subjects Identifies a Novel Locus in 17q21.31
for Alzheimer Disease. G. Jun.
1165S Evidence pointing to abnormal energy
metabolism in two genetic animal models of epilepsy.
POSTER SESSIONS
1182T First GWAS in DBH confirms strong cis-
A. H. B. Matos. acting variants and lends support for its role as an
intermediate phenotype in post-traumatic stress
1166M Genetic influences on metabolite levels in disorder. A. X. Maihofer.
Alzheimer’s Disease. P. Proitsi.
1183S Genome-wide association study of sensory
1167T Genome-wide meta-analysis identifies three loci disturbances in the inferior alveolar nerve after
for common forms of epilepsy. J. P. Bradfield. bilateral sagittal split ramus osteotomy. D. Nishizawa.
1168S Investigating polygenic contributions 1184M Genes Involved in Brain Development Influence
of common hippocampal variants to epilepsy Crying Habits -A Genome Wide Association Study. C.
predisposition. C. D. Whelan. Tian.
1169M Using polygenic risk scores of psychiatric 1185T Identification of a novel locus for human-
disorders to predict Neuroticism. L. Colodro Conde. directed fear in dogs. K. Tiira.
1170T Machine Learning Derived Disease Risk 1186S Genetic determinants of survival in patients with
Prediction for Anorexia Nervosa. Y. Guo. Alzheimer’s disease. X. Wang.
1171S Genome-wide Association Study of Quantitative 1187M Integrative systems approaches to deciphering
Autistic Traits in the General Population. T. Nishiyama. the genetic landscape of late-onset Alzheimer’s
disease. Y. Zhao.
1172M Diagnostic exome sequencing of patients with
Autism Spectrum Disorder overwhelmingly detects 1188T TMEM106B is a genetic modifier of
mutations in newly characterized genes, which frontotemporal lobar degeneration with C9ORF72
supports a de novo paradigm and the convergence of hexanucleotide repeat expansions. M. D. Gallagher.
disrupted pathways in neurodevelopmental disease.
Z. Powis. 1189S Gene subnetworks in cocaine-induced paranoia:
Convergence between populations. C. Phokaew.
1173T Common polygenic variation and risk for
childhood-onset schizophrenia. K. Ahn. 1190M A genome-wide screen for fear of heights
susceptibility loci in a Finnish isolate. I. Hovatta.
1174S A psychometric GWAS finds specificity
of variants associated with level and change in 1191T Ancient human mtDNA variation is associated
immediate and delayed verbal memory after age 60. T. with Autism spectrum disorder in Europeans. D.
E. Arpawong. Chalkia.
1175M GWAS analysis of Insight into illness in 1192S Genome-wide association study of dementia
Schizophrenia. V. De Luca. with Lewy bodies. J. Bras.
1176T Genetic influences of language development in 1193M The contribution of uncommon coding variants
typically developing children and children with autism to risk for Alzheimer’s disease, frontotemporal
spectrum disorders. J. D. Eicher. dementia, and progressive supranuclear palsy: an
exome array study of the multi-ethnic GIFT cohort. J.
1177S Genome-wide meta-analysis reveals significant A. Chen.
association between CHRNA4 variants and nicotine
dependence in cohorts of European ancestry. N. C. 1194T A variant in Cadherin 1 (CDH1) achieves near
Gaddis. genome-wide significance in African Americans using
a liability model. J. Mez.
1178M Identification of novel candidate genes in
canine noise phobia -a model for human panic 1195S A genome wide association study on fine motor
disorder. O. Hakosalo. speed. C. L. Satizabal.
1179T Core-Exome Chip study of low-frequency 1196M Variants near CCK receptors are associated
variants identifies genome-wide significant hits with electrophysiological responses to pre-pulse
associated with anorexia nervosa. K. Hatzikotoulas. startle stimuli in a Mexican American cohort. T. M.
Norden-Krichmar.
1180S Multi-ethnic meta-analysis in a cohort of 110,266
individuals identifies novel shared and sex-specific loci
associated with smoking initiation. E. Jorgenson.
130 POSTER SESSIONS
1197T Large-scale genetic predictor of gene 1213S Whole Exome Sequencing in Females with
expression associated with risk of bipolar disorder. K. Autism Implicates Novel and Candidate Genes. M. G.
P. Shah. Butler.
1198S eQTL analysis of a large-scale RNA-sequencing 1214M Novel compound heterozygous PIGT mutations
cohort of schizophrenic and normal brains. S. K. caused multiple congenital anomalies-hypotonia-
Sieberts. seizures syndrome 3. M. Nakashima.
1199M A Spatiotemporal Systems Biology Approach 1215T Common, low frequency, and rare coding
to Understanding Autism Spectrum Disorder and variants in CHRNA5 contribute to nicotine dependence
Schizophrenia. A. J. Willsey. in European and African Americans. E. Olfson.
1200T Multiple system atrophy and spinocerebellar 1216S Trio-based exome sequencing indicates the ion
degeneration associated with mutations in the COQ2 homeostasis is relevant to bipolar disorder. N. Matoba.
gene. H. Sakamoto.
1217M Genome-wide analysis of copy-number
1201S Autosomal dominant cerebellar ataxia and variation in Canadian children with developmental
mental impairment with a novel nonsense mutation of coordination disorder implicates neurodevelopmental
prkcg. H. Shimazaki. genes. F. P. Bernier.
1202M SPG7 mutations in a French-Canadian family 1218T Copy Number Variation in Han Chinese
affected by a recessive spastic ataxia. M. Tetreault. Individuals with Autism Spectrum Disorder. M. J.
Gazzellone.
1203T Discovery, validation and genotyping of CNVs
by analysis of genome sequence and microarray. D. 1219S Next Generation Sequencing for the study of
Antaki. ALS and other Motor Neuron Diseases. C. Gellera.
1204S Meta Analysis of Case/Control Autism Exome 1220M Exome sequencing of mesial temporal lobe
Sequencing Data. J. A. Kosmicki. epilepsy with hippocampal sclerosis in parent-
offspring trios. S. S. Cherny.
1205M Interstitial duplication Xp11.4 and triplication of
Yq11.22 leading to disruption of TSPAN 7 and NLGN4Y 1221T Homozygous mutation in Synaptic Vesicle
in a child with autism. W. S. Baek. Glycoprotein 2A gene results in intractable epilepsy,
microcephaly, intellectual disability and growth
1206T TRPM1, the transient receptor potential retardation. A. Huq.
cation channel M1, harbors rare putatively damaging
missense variants disproportionately transmitted to 1222S Personalized medicine in the treatment of
affected sibs in schizophrenia quads. S. Gulsuner. epilepsy. R. G. Lafreniere.
1207S Screening for Mutations in Non-Syndromic 1223M Identification of rare variants from exome
Autosomal Recessive Intellectual Disability Genes in sequencing in a large family with dyslexia. A. Carrion-
Non-Consanguineous Intellectual Disability and Autism Castillo.
Populations. X. Liu.
1224T Analysis of major amyotrophic lateral sclerosis
1208M Association study of TREM2 exon 2 variants genes in Japan. R. Nakamura.
with late-onset Alzheimer’s disease in Iranian elderly
population. Z. Mehrjoo. 1225S De Novo Mutations in Autistic Children from
Multiplex Families. C. L. Simpson.
1209T Increased Genome-wide Burden of Rare Coding
Variants in Schizophrenia. L. M. Olde Loohuis. 1226M Differences in Genetic Features May Explain the
Discordance of Monozygotic Twins for Schizophrenia.
1210S Targeted sequencing of candidate genes C. Castellani.
identified in extended families with Alzheimer disease.
J. Rehker. 1227T Association analysis of MAPT with cerebrospinal
fluid tau using targeted sequencing data in older
1211M Identification of Molecular Markers in adults with mild cognitive impairment or Alzheimer’s
Parkinson’s Disease Using Next Generation disease. K. Deters.
Sequencing. S. M. Sperber.
1228S Deep whole genome sequencing reveals
1212T Mutation in the chromatin-remodeling factor multiple hits in non-coding sequence of autism risk
BAZ1A is associated with intellectual disability. A. genes. F. Hormozdiari.
Zaghlool.
POSTER SESSIONS 131
1229M Exome sequencing in extended families with 1245T Assessing the role of methylation in autism
age-related macular degeneration reveals enrichment brains. S. E. Ellis.
of genes involved in extracellular matrix pathway. R.
Priya. 1246S Methylation pathway and chromatin
modification in autism. M. Smith.
POSTER SESSIONS
1230T Large scale whole genome sequencing of
Bipolar disorder 1 cases and controls in the BRIDGES 1247M Mutation Screening in Saudi Parkinson’s
study. L. J. Scott. Disease Patients. B. R. Al-Mubarak.
1231S Trio-Based Whole Genome Sequence Analysis 1248T Genetics of dementias in a Turkish cohort. R.
of a Cousin Pair with Refractory Anorexia Nervosa. P. Guerreiro.
Shih.
1249S Mutation screening in exon 2 of synaptic gene
1232M Exome Association Study and 2nd SNP-GWAS SHANK3 in Brazilian individuals with Autism Spectrum
of Japanese Parkinson’s disease. W. Satake. Disorder. D.BA. Rosan.
1233T Identifying Genetic Variants Associated with 1250M Variations in hotspot region of -amyloid
Anorexia Nervosa via Exome Sequencing. Q. Wei. precursor protein (APP) gene in various neurological
disorders from Hyderabad, a cosmopolitan city of
1234S A Population-based Approach for Detecting South India. W. Thomas.
Rare Recessive Variation Implicates the Cholesterol
Biosynthesis Gene DHCR24 in Autism Spectrum 1251T DYT16 revisited: exome sequencing identifies
Disorder and Intellectual Disability. E. T. Lim. PRKRA mutations in a European dystonia family. M.
Zech.
1235M Mutational and transcriptional analysis in
Autism Spectrum Disorders support their oligogenic 1252S Rapid multiplex sequencing of genes associated
model disturbing common functional pathways. M. with progressive neurodegenerative disorders. M. O.
Codina-Solà. Dorschner.
1236T Whole-exome sequencing of multiplex families 1253M Genome sequencing in X-Linked Ataxia
identifies several rare coding variants in known and Dementia. J. L. Farlow.
novel Late-Onset Alzheimer genes. B. W. Kunkle.
1254T Prion disease with chronic diarrhea associated
1237S Targeted resequencing of non coding functional with PRNP mutation Q160X has reduced penetrance.
DNA elements in autism. D. Malhotra. J. C. Fong.
1238M Identification of Rare Variants for Bipolar 1255S Rare disease allele penetrance and loss-
Disorder by Exome Sequencing in Multiplex Families. of-function tolerance in a dominant disease gene:
S. Ramdas. analysis of variation in >60,000 exomes. E. V. Minikel.
1239T A Cohort for Researching Autism Genetics in 1256M A novel insertion mutation of MAPT causes
New Zealand. B. Swan. FTDP-17 with distinct pathology. H. Morino.
1240S Mutations in adaptor protein AP-5 subunits 1257T Strategy to discover new ALS causative genetic
lead to peripheral neuropathy, spastic paraplegia and variant in Japanese ALS patients. J. Sone.
parkinsonism with aberrant endolysosomes. M. Madeo.
1258S Mutation detection in Amyotropic Lateral
1241M Targeted sequencing of African American Sclerosis from RNAseq data. K. A. Staats.
autism spectrum disorder patients reveals loss of
function variants in novel autism genes. P. Whitehead. 1259M PRKAR1B mutation associated with a new
neurodegenerative disorder with unique pathology. T.
1242T Exome sequencing of 43 sporadic cases with an H. Wong.
autism spectrum disorder in a local cohort of families
identifies severe de novo variants and implicates 1260T Transcriptome sequencing in bipolar disorder
additional genes in ASD pathogenesis. W. Banks. identifies a global downegulation in the anterior
cingulate and dysregulation of G protein-coupled
1243S De novo and rare inherited mutations implicate receptors. C. Cruceanu.
the transcriptional coregulator TCF20/SPBP in autism
spectrum disorder. A. O. M. Wilkie. 1261S Targeted-resequencing gene panels for the
genetic diagnosis of spinocerebellar ataxia and spastic
1244M MEF2C haploinsufficiency is a recurrent finding paraplegia in Italian patients. D. Di Bella.
in patients with autism spectrum disorders. A. Ziegler.
132 POSTER SESSIONS
1262M Deconstructing obsessive-compulsive disorder 1279S Genome-wide gene expression analysis of

(OCD) by whole exome sequencing and integration of identical twins discordant for autism spectrum
clinical endpoints and cognitive domains. L. Domenech. disorder. A. Saffari.
1263T Targeted sequencing of a visual migraine aura 1280M A mouse model of 2q23.1 deletion syndrome
locus on chromosome 9q22. M. E. Hiekkala. implicates MBD5 in neuronal development. J. Young.
1264S Exome sequencing of familial agenesis of 1281T A key role for TDP2 in neuronal development
corpus callosum cases. L. Jouan. and maintenance. J. H. M. Schuurs-Hoeijmakers.
1265M Rare Alleles Altering Schizophrenia Risk Occur 1282S Diagnostic assessment using next
in Exons and Noncoding Functional Sequences. E. K. generation sequencing in extremely heterogeneous
Loken. neurodegenerative disorders, hereditary ataxia and
spastic paraplegia. Z. Iqbal.
1266T A targeted-resequencing approach for the
genetic diagnosis of inherited peripheral neuropathies 1283M Identifying biomarkers in chronic neuropathic
in Italian patients. S. Magri. pain. P. C. McHugh.
1267S Molecular Studies of mTOR and Tau pathways in 1284T Genetic diagnosis of neurological diseases
Focal Cortical Dysplasia. M. G. Mazutti. using NGS - Report of 48 cases. D. Garcia.
1268M Evidence for association of CDH26 with Autism 1285S Transcriptome analysis of distinct mouse strains
Spectrum Disorders. F. Mentch. reveals kinesin light chain-1 splicing as an amyloid
beta pathology modifier in Alzheimer’s disease: A
1269T Searching for a common founder - exome mouse-to-human translational approach to complex
sequencing of sporadic early-onset Parkinson’s diseases. T. Morihara.
disease in Norway. A. H. Rengmark.
1286M Circadian Network and Autism: Role of the
1270S Whole exome sequencing identifies MEOX2 as a JARID1 Genes. Z. Talebizadeh.
candidate genetic factor in posterior cortical atrophy.
E. C. Schulte. 1287T RNA-sequencing and gene co-expression
analysis identifies novel genes and pathways in bipolar
1271M Exome sequencing identifies a novel missense disorder. N. Akula.
mutation in MFN2 in familial dysautonomia. Z. Wei.
1288S GluD1 is over-expressed in iPSC-derived FOXG1
1272T Inherited and de novo Transposable Elements in neurons: a potential common therapeutic target for
schizophrenia. F. Macciardi. Rett syndrome. S. Amabile.
1273S Evidence for differential X chromosome 1289M Phenotypic, molecular, functional and structural
gene expression in children with sex chromosome analysis of new DCX and LIS1 mutations causing the
aneuploidies. D. Hong. subcortical band heterotopia/lissencephaly spectrum.
D. R. Amrom.
1274M Subcortical band heterotopia (double cortex
syndrome) not associated with DCX or LIS1 gene 1290T De novo TBR1 mutations in sporadic autism
mutations. E. Andermann. disrupt protein functions. P. Deriziotis.
1275T The astrocytic transporter Slc7a10 (Asc-1) 1291S Analysis of actin cytoskeleton dynamics in stem
is required for glycinergic inhibitory function. J. T. cells from autistic patients. K. Griesi-Oliveira.
Ehmsen.
1292M Transcription and methylation reveals microglia
1276S Temporal mRNA expression profile of related and non-coding RNA networks specifically
cyclooxiganase-2a and cyclooxiganase-2b altered in Dementia with Lewy Bodies. C. Humphries.
genes in adult and larvae zebrafish brain after
pentylenetetrazole-induced seizure. H. M. Gomide. 1293T Loss-of-function mutations of progranulin
(PGRN) in siblings with familial FTLD. E. Vitale.
1277M Profiling gene expression in CFW mouse brains
to refine our understanding of the genetic architecture 1294S Significant Enrichment of Disease-specific
of behavioral traits. S. Gopalakrishnan. Polymorphisms surrounding microRNAs suggests
further involvement in Schizophrenia and Bipolar
1278T Contiguous deletion of CADPS2 and GRM8 Disorder. V. Williamson.
associates with severe autism spectrum disorder. C.
Hatano. 1295M The transcriptome of 16p11.2 syndrome
patients uncovers a link between autism and
ciliopathies. A. Reymond.
POSTER SESSIONS 133
1296T Transcriptome Profiling and Behavioral Analysis 1312S A polymorphic di-nucleotide repeat (DNR)
of a VIPR2-CNV Mouse Model of Schizophrenia. T. variant in the 5’UTR of DPYSL2 gene affects its
Chapman. regulation via mTOR signaling. X. Pham.
1297S Gene expression and neuronal morphology in 1313M Functional analysis in C. elegans of candidate
POSTER SESSIONS
differentiating human induced Pluripotent Stem Cells genes for schizophrenia. S. B. Pierce.
(iPSCs) from individuals with chromosome 15q11.2
deletions. D. K. DAS. 1314T New mutations of CYP2U1 in patients with
spastic paraplegia and exploration of mitochondria
1298M Spatio-temporal 16p11.2 Protein Network dysfunctions. C. Tesson.
Implicates Cortical Late Mid-fetal Brain Development
and RhoA Pathway in Psychiatric Diseases. L. M. 1315S Behavioral phenotyping of mice deficient in
Iakoucheva. CHRNA7. J. Yin.
1299T Transcriptome signature of schizophrenia- 1316M Regulatory function of CACNA1C

associated rare copy number variants (CNVs) in schizophrenia-associated variants. N. Eckart.
lymphoblastoid cell lines (LCLs). W. Moy.
1317T Dysregulated Sonic Hedgehog signaling in
1300S Functional analysis of GRIN2A mutations in MED12-related XLID disorders. S. Srivastava.
childhood epileptic encephalopathies. L. Addis.
1318S Transcriptome analysis of Lphn3 null mutant
1301M Transcriptional regulation at the TREM gene mouse brain and implications for ADHD and Addiction.
cluster in AD brains. M. M. Carrasquillo. D. Wallis.
1302T Polymorphism in the miRNA-433 binding site of 1319M Dual-marker lineage specific sorting in
FGF20 is a strong risk factor for Parkinson’s disease in heterogeneous Parkinson’s disease patient-specific
Iranian population. S. Abtahi. iPSC-derived dopaminergic neuronal cultures. K. Belle.
1303S Integration of miRNA-mRNA networks to 1320T Investigating the role of RBFOX1 in human stem
elucidate the complexity of psychiatric disorders. C. cell-derived glutamatergic neurons. H. N. Cukier.
Chen.
1321S Mutant dystrophin Dp71 78-79 stimulates cellular
1304M Disruptions to the miRNA regulatory pathway proliferation in the inducible system PC12 Tet-On. A.
may cause an increased rate of schizophrenia in Herrera-Salazar.
individuals with 22q11.2DS. W. Manley.
1322M Prenatal malnutrition reprogrammed postnatal
1305T RNA-seq analysis reveals potential link between gene expression in mammals’ brain. JW. Xu.
mammalian mitochondrial fatty acid synthesis (mtFAS
II), RNA processing, and neurodegeneration. S. L. 1323T Gene expression profiling of human astrocytes
Mitchell. treated with bexarotene and related compounds
shows an increase in the neuroprotective cytokine
1306S The Genetic Factors and Molecular Mechanisms GMCSF. R. F. Richholt.
Underlying Lewy Body Pathology in Alzheimer’s
Disease. O. Chiba-Falek. 1324S Persistent neurocognitive decline is associated
with vascular and epithelial damage to the choroid
1307M REPS1 is a novel gene of Neurodegeneration plexus and -amyloid plaques in an outbred rat model.
with Brain Iron Accumulation. A. B. Drecourt. A. J. Wyrobek.
1308T Impaired Function is a Common Feature of 1325M No association between telomere length and
Neuropathy- Associated GARS Mutations. L. B. Griffin. exposure to life course stress or adversity in two
longitudinal New Zealand cohorts. S. Jodczyk.
1309S Novel Cytoplasmic Roles for the RNA-binding
Protein, TDP-43. R. Smith. 1326T Polymorphisms in the TCF4 gene interact with
body mass index to influence lithium response among
1310M Allelic expression analysis in the brain suggests patients with bipolar disorder. E. Ryu.
a role for heterogeneous insults affecting epigenetic
processes in autism spectrum disorders. E. Ben-David. 1327S Multiple functional linear models and three
dimensional functional principal component analysis
1311T GRIP2-mediated AMPA Signaling Defects for image-genetic data analysis in clouds. J. Jiang.
Contribute to Autism Social Behavioral Deficits. T.
Niranjan. 1328M Whole genome analysis of high-dimensional
phenotypic data: Multiple testing in the context of
genome-wide analysis. S. E. Medland.
134 POSTER SESSIONS
1329T MicroRNAs associated with declarative memory 1347T Association of common variants in CCM genes
phenotypes. J. Neary. with disease severity in familial Cerebral Cavernous
Malformations Type 1. H. Choquet.
1330S Expanding the phenotypic spectrum of AFG3L2-
associated ataxia. A. Knight Johnson. 1348S Change of neuronal gene expression by
administration of various anti-depressant in primary
1331M Expanding the phenotypic spectrum neocortical neurons. N. A. Nguyen.
of TUBB4A-associated hypomyelinating
leukoencephalopathies. S. Miyatake. 1349M Premorbid psychiatric diagnosis in young
persons with 22q11.2 deletion syndrome who later
1332T Genetic enrichment of multiple sclerosis risk developed schizophrenia. E. Chow.
loci in multiple sclerosis patients with co-morbid
diseases. M. F. Davis. 1350T Association between advanced paternal age
and early onset of schizophrenia among sporadic
1333S Microbiome profiling in whole blood using RNA- cases. S. Wang.
seq reveals disease-specific patterns. S. Mangul.
1351S Cyclooxygenase-2 non-selective inhibitor prior
1334M COFS syndrome due to ERCC1 mutation to pentylenetetrazole-induced seizures increases the
without Nucleotide Excision Repair defect. Y. Capri. latency to seizure onset and decreased the number of
seizures in zebrafish. P. Barbalho.
1335T MindCrowd: web-based testing of 19,202
individuals suggests family history of Alzheimer’s 1352M miR-1202: A Primate Specific and Brain
disease is associated with decreased episodic memory Enriched miRNA Involved in Major Depression and
performance in young adults. M. J. Huentelman. Antidepressant Treatment. J. P. Lopez.
1336S Phenotypic spectrum associated with PTCHD1 1353T The NINDS Repository Biomarker Discovery
deletions and truncating mutations. J. B. Vincent. Collection is a Public Resource for Neurodegenerative
Disorders. G. Balaburski.
1337M Report of a Colombian family with new clinical
features for autosomal dominant sleepwalking and 1354S SP1 inhibitors as modulators of APP and
night terrorsautosomal dominant. M. Lattig. BACE1 levels in human cells: A novel drug target in
Alzheimer’s disease. B. L. Bayon.
1338T The transcriptional regulator ADNP links the
nBAF (mSWI/SNF) complexes with autism. F. Kooy. 1355M Association of Serotonin 2c Receptor
Polymorphisms with Antipsychotic Drug Response In
1339S Prenatal and perinatal risk factors for autism Schizophrenia. J. Li.
spectrum disorders. A. Anhalt.
1356T First case of Spinocerebellar Ataxia type 1 in a
1340M Evidence of a Genetic Basis for Developmental Mexican female. I. Cervantes.
Topographical Disorientation. S. F. Barclay.
1357S Allelic distribution of the normal ATXN10 gene
1341T Genetic Basis of Dynamic Auditory Processing in a sample of a Peruvian Amerindian population: an
with Application to Reading Ability. J. F. Flax. exploratory study. D. Veliz-Otani.
1342S Linkage analysis of IQ discrepancy in autism: an 1358M Molecular characterization of genes modifying
attempt to replicate. A. Q. Nato. the age at onset in Huntington’s Disease in a group of
patients from Uruguay. P. Esperon Percovich.
1343M Identifying endophenotypes associated with
Age-related Macular Degeneration in the Amish. M. 1359T Deregulation of specific microRNAs in whole
Pericak-Vance. blood and skeletal muscle of Myotonic Dystrophy type
one patients. K. K. Ambrose.
1344T P54NRB/NONO mutations link intellectual
disability to impaired gene expression and altered 1360S FMR1-based “Double HIt” model and genomic
circadian rhythm. M. Langouet. studies in premutation carriers. R. Lozano.
1345S Gene expression analysis of methamphetamine 1361M Determination of the origin of Huntington
addicted and schizophrenic patients in correlation with disease based on haplotypes in a Peruvian population.
their psychiatric symptoms. A. Haghigatfard. I. Tirado.
1346M Early-onset Behr syndrome due to compound

heterozygous mutations in OPA1. P. Amati-Bonneau.
POSTER SESSIONS 135
1378M Novel Integrative Genomics Approach for the
Bioinformatics and Genomic Discovery of MicroRNA and mRNA Signatures and
Technology target Pathways in Prostate Cancer. C. Hicks.
1379T Medical re-sequencing analysis pipeline
POSTER SESSIONS
1362S Event-level quantification of alternate splicing provides one-stop solution for identifying disease-
using junction reads identifies new splicing QTLs in causing mutations of Mendelian disorders. H. Hu.
RNA-seq data from 1000 Genomes Project samples. T.
Bhangale. 1380S A novel integrated analysis framework for
detecting genome-wide changes in gene expression
1363M Detection and prediction of deleterious or regulation with next-generation sequencing data.
mutations affecting pre-mRNA processing. D. S. Hanna. W. Huang.
1364T An Integrative Approach to Identify Splice 1381M Database of disease-associated genomic

Factors and their Putative Upstream Regulators. M. polymorphisms based on assessment of
Subramaniam. reproducibility between or within human populations.
T. Imanishi.
1365S The Exome Coverage and Identification (ExCID)
Report: a gene survey tool for clinical sequencing 1382T Semantic Similarity Analysis of Patient
applications. C. Buhay. Phenotypes for Genome Wide Genetic Diagnostics. R.
James.
1366M Scaled Sparse High Dimensional Tests for
Localizing Disease Susceptible Sequence Variants. S. 1383S Efficient and accurate multiple phenotypes
Cao. regression method for high dimensional genomic data
considering the population structure. J. W. Joo.
1367T Serapis: an archival system for large-scale
genetic data. I. G. Colgiu. 1384M Using a Pan-Genome Reference for Sequence
Alignment and Accurate Haplotype Discovery. D. Kural.
1368S Leveraging Genome Mapping in Nanochannel
Arrays and NGS for a Better Human De Novo 1385T Predicting functional regulatory variants from
Sequence Assembly. H. Dai. DNA sequence. D. Lee.
1369M Inference for high-dimensional feature selection 1386S DISTMIX: Direct imputation of summary
in genetic studies. C. Ekstrøm. statistics for unmeasured SNPs from mixed ancestry
population. D. Lee.
1370T An integrated framework for sequence variant
prioritization. B. Feng. 1387M Detecting complex fusion transcripts in
pediatric cancer using a novel assembly-based
1371S Omics Pipe: A Computational Framework for algorithm CICERO. Y. Li.
Multi-Omics Data Analysis. K. Fisch.
1388T Mixture modeling of next generation sequencing
1372M Tandem repeat sequencing error profiles and data and its application to estimating genotype
error correction models for short read sequencing frequency. J. Lihm.
data. A. Fungtammasan.
1389S A high-performance database framework for
1373T Mitochondrial disease sequence data resource fast and easy prioritization of disease related variants
(MSeqDR) consortium: A Centralized Genomic from Exome Sequencing data. B. Linghu.
Resource for Analyzing Genetic Variants of Individuals
with Suspected Mitochondrial Disease. X. Gai. 1390M Analysis of Human neurodevelopmental
disorders from the systems biology perspective using
1374S Using RNA-Seq to improve sensitivity/specificity the Lynx Platform. N. Maltsev.
of CNV calls made from whole-exome sequencing
data. R. Golhar. 1391T Identification of differentially expressed genes
and somatic mutations in esophageal adenocarinoma
1375M Branch: An interactive, web-based tool for cancer patients. M. Matvienko.
building decision tree classifiers. B. M. Good.
1392S A Simple Method of Generating Reproducible
1376T Computational evaluation of the pathogenicity NGS Workflows. M. Mikheev.
of noncoding sequence variants in autism spectrum
disorder. A. J. Griswold. 1393M Clinical whole-exome and whole-genome
sequencing in dystonia: a key role for UMD
1377S Similarity metrics for comparing exome knowledgebases. M. Miltgen.
sequence variants. V. Heinrich.
136 POSTER SESSIONS
1394T A high-fidelity simulation validation framework 1411M Pedigree Reconstruction by PRIMUS using
for high-throughput genome sequencing with cancer Exome Sequencing Data. J. Staples.
applications. J. C. Mu.
1412T DbGaP Phenotype Quality Control. A. Sturcke.
1395S Accurate estimation of transcript isoform
expression from RNA-Seq data by improved variational 1413S A case study for high throughput analysis of
Bayesian inference. N. Nariai. NGS data for translational research using Globus
Genomics. D. Sulakhe.
1396M Phy-Mer: A novel alignment-free and reference-
independent mitochondrial haplogroup classifier. D. 1414M Targeted alignment and end repair elimination
Navarro-Gomez. increase alignment and methylation measure accuracy
for reduced representation bisulfite sequencing. Z.
1397T Application of Machine Learning Techniques Sun.
to Next Generation Sequencing Quality Control. S. M.
Nicholls. 1415T Unraveling epistatic causal genes of diseases
with hyper-sensitive multiple testing procedure. A.
1398S Computational Medicine for Investigation the Terada.
functional Sterol Regulatory Element Binding Protein-1
gene Polymorphism: a new challenge for Glucose- 1416S Graphical algorithm for integration of genetic
6-phosphate dehydrogenase deficiency biology. A. and biological data: Proof of principle using psoriasis
Palasuwan. as a model. L. C. Tsoi.
1399M Computational tools for discovery of patterns 1417M A population- and pedigree-aware alignment
and associations in genetic and genomic data. P. strategy for Next Generation Sequencing data. E.
Pavlidis. Valkanas.
1400T Sparse structural equations for joint phenotype- 1418T My-Forensic-Loci-queries (MyFLq) BaseSpace
genotype network analysis. M. L. Rahman. application for analysis of forensic STR data generated
by massive parallel sequencing. F. Van Nieuwerburgh.
1401S Human Splicing Finder: An invaluable system to
annotate the impact of mutations on splicing signals. 1419S Identification of Somatic Mutations at Single-
G. Raï. Cell Resolution. X. Wang.
1402M Plot: A tool to automatically summarise single 1420M Sparse functional graphical model for joint
variant analyses. N. W. Rayner. analysis of RNA-seq and DNA sequencing data. P.
Wang.
1403T Network Modeling of Transcriptional Response
to Influenza Vaccination. A. Renwick. 1421T Swiss: a bioinformatics tool for identifying
overlap between novel loci in GWAS scan results and a
1404S A Novel Family-based Approach for Analysis GWAS catalog. R. P. Welch.
and Interpretation of Exome Sequencing Data in
Pedigrees. R. Robison. 1422S Churchill: An Ultra-Fast Analysis Pipeline for the
Discovery of Human Genetic Variation in Clinical and
1405M Improving Computational Prediction of Population Scale Genomics. P. White.
Clinically Relevant Genome Variation. A. Rychkova.
1423M Neat-optimal whole genome reconstruction by
1406T Cancer is a Zero Sum Game between Cells and a small set of genomic variants. M. Xiong.
Cells! A. R. Salehi Chaleshtori.
1424T Detecting Nuclear Receptors Using a Finite
1407S UMD-Predictor: A variant annotation Mixture Model. M. Xu.
masterpiece for NGS pipelines. D. Salgado.
1425S Bayesian inference for tumour heterogeneity
1408M SUGAR: high-resolution refinement of high- using the Hamming Ball Sampler. C. Yau.
throughput sequencing reads considering their spatial
organization in flowcells. Y. Sato. 1426M LVpicker: picking up true, low-frequency
variants for studying cancer heterogeneity. J. Zhang.
1409T RaMWAS: Analysis software for rapid
methylome-wide association studies. A. A. Shabalin. 1427T Efficient and accurate de novo assembly
algorithm for paired-end reads and its application in
1410S Genome and Transcriptome Free Analysis of indel calling. L. Zhao.
RNA-Seq Data (GT-FAR) using cloud computing. T.
Souaiaia. 1428S PGS: a tool for association study of high-
dimensional microRNA expression data with repeated
measures. Y. Zheng.
POSTER SESSIONS 137
1429M FExSeq: A familial exome sequencing discovery 1447M novoBreak: comprehensively characterizing
pipeline. C. Chung. somatic structural breakpoints in cancer genomes. Z.
Chong.
1430T A novel approach to methylation-Seq data
analysis based on functional principle component 1448T SG-ADVISER: CNV annotation pipeline. G.
POSTER SESSIONS
analysis (FPCA). S. Guo. Erikson.
1431S Next-generation sequencing reveals the 1449S Challenges to CNV Detection in the Clinic
presence and positions of novel duplications in clinical using Targeted High Throughput Sequencing Data. S.
samples. M. Kennemer. Sadedin.
1432M OncoRep: An n-of-1 reporting tool to support 1450M SAAS-CNV: A joint segmentation approach
genome-guided treatment for breast cancer patients on aggregated and allele specific signals for the
using RNA-sequencing. T. Meissner. identification of somatic copy number alterations with
next-generation sequencing data. Z. Zhang.
1433T Identification of transcriptional regulators
associated with breast cancer risk. K. B. Meyer. 1451T The new European Variation Archive Resource
at EMBL-EBI. I. Medina.
1434S Molecular docking simulations provide insights
in the substrate binding sites and possible substrates 1452S PON-P2, PON-Diso and PON-MMR: tools for
of the ABCC6 transporter. O. Vanakker. prediction of variation pathogenicity. M. Vihinen.
1435M A method for the discovery of long-range 1453M HLA-Genotyper Prediction of HLA Genotypes
genomic interactions from 3C-seq experiments. T. from Next Generation Sequencing Data. J. Farrell.
Yuan.
1454T A Statistical Approach that Simultaneously
1436T Using a reference panel to increase coverage in Perform Variant Calling and Local Haplotyping Based
pooled sequencing experiments. H. Al-Asadi. on Phase-Informative Reads. K. Kojima.
1437S The DNA Integrity Number: A novel approach 1455S Kragle: a new local de novo assembler and
for objective integrity classification of genomic DNA genotype caller for short tandem repeats and other
samples. M. Gassmann. complex variations. K. Konvicka.
1438M Genomic susceptibility for cancer prediction by 1456M Pipeline and variant annotation tool for
supervised machine-learning methods on SNP-syntax. identifying causal variants in inherited rare disorders.
S. Kim. K. Kundu.
1439T A composite classifier for prioritizing somatic 1457T SVSI: A Fast and Powerful Set-Valued System
SNVs based on predicted functional impact, protein Identification Approach to Identifying Rare Variants
disorder, and gene expression. W. Liao. in Sequencing Studies for Ordered Categorical Traits.
W. Bi.
1440S Barcode-based template identification of KIR
region in human genomes. C. Lo. 1458S A comprehensive empirical evaluation of linear
mixed models for GWAS. D. Heckerman.
1441M Network-Augmented Genomic Analysis (NAGA)
applied to Cystic Fibrosis studies. S. Loguercio. 1459M Accelerating curation of the catalog of GWAS
by automatic text mining. C. Hsu.
1442T Whole-Exon Haplotype Calling for Clinical Next-
Generation Sequencing. J. Maguire. 1460T GACT: A Tool for Predicting and Converting
Genome Build and Allele Definition during Imputation
1443S JADE: A tool for comparative analysis of and Meta-analysis of SNP Genotype Data. A. Sulovari.
spatially smooth genomic data. J. Morrison.
1461S Applying compressed sensing to genome-wide
1444M Identifying causal noncoding variants using association studies. S. Vattikuti.
tissue-specific gene regulatory networks. K. Tan.
1462M Cross-Phenotype Analysis of GWAS (CPAG): A
1445T ClinSeK: targeted clinical variant identification powerful tool for detecting shared genetic architecture
from high-throughput sequencing data. W. Zhou. among human traits and underlying shared pathways.
L. Y. Wang.
1446S Detection, Characterization, and Biological
Analysis of Long Tandem Repeats Detected in Human 1463T GeneHeal: An Online Resource for Mutations
Genomes Using Nanochannel Technology. S. Chan. and Associated Phenotypes in Deafness. A. Mehta.
138 POSTER SESSIONS
1464S A fast and accurate method for detection of 1480M Integrated Variant Comparison Using Three
IBD shared haplotypes in genomewide SNP data. D. Different DNA-seq Analysis Methods. H. Beale.
Bjelland.
1481T Predicting splicing mutations by information
1465M HapFerret: A flexible haplotype inference theory-based analysis in rare and common diseases:
program, determining blocks of haplotype inferability. performance and best practices. N. G. Caminsky.
G. Nelson.
1482S PedigreeAnnotator: a GATK walker to annotate
1466T A novel approach to craniofacial gene variants based on pedigree information. B. K. Cornes.
discovery: SysCLFT (Systems tool for Cleft lip/palate
gene discovery). I. Saadi. 1483M GenAP workbench: aiding variant classification
in clinical diagnostic settings. M. C. Eike.
1467S Phenolyzer: prioritizing candidate genes from
disease/phenotype descriptors. H. Yang. 1484T Hadoop Acceleration of Bioinformatics
Algorithms. M. Gollery.
1468M Determining the Number of Contributors using
Forensically Relevant STRs: Effects of Template Mass 1485S Benchmarking of Strand NGS variant caller
and Complexity on the Ability to Correctly Identify the using a whole genome sample NA12878 and data from
Number of Contributors. L. Alfonse. Genome in a bottle consortium. R. Hariharan.
1469T Detection of autozygous segments in exomes of 1486M Accurate detection of low-representation

inbred individuals. M. Vigeland. alleles in tumor DNA through augmented exome and
transcriptome sequencing. E. Helman.
1470S A systems biology approach for enriching
genetic association studies of metabolite profiles with 1487T Genomic Analysis of Blood-mediated Disorders
pathway knowledge. K. Willems van Dijk. in African Americans. L. Jackson.
1471M Integration of transcriptome, bioinformatics 1488S In silico prediction of splice-altering single

and model organism studies to gain insight into nucleotide variants in human genome. X. Jian.
microRNA function. S. Banfi.
1489M High-accuracy imputation for HLA class I and II
1472T Enhanced statistical methods to detect genes based on genome-wide SNP data of population-
cross-population heterogeneity at GWAS risk loci. M. specific references. S. Khor.
Roytman.
1490T LNCScore: a machine-learning approach for
1473S Regulatory network constructed from the novel lncRNA discovery from RNA-Seq data. J. H. Kim.
epigenome of normal cells reveals functional
connections between disease genes. R. F. Lowdon. 1491S Biomarker Discovery From RNA-seq Data Using
a Biologist-Friendly Analysis Platform. B. Lee.
1474M Dynamic changes in RNA modifications
(epitranscriptome) localization drives new regulation of 1492M PARADIGM-SHIFT predicts the functional
cancer cells. Y. Saletore. impact of ‘driver modules’ in multiple cancers using
pathway impact analysis. S. Ng.
1475T An integrated method to predict functional
impact of non-synonymous SNVs in human genome. 1493T Geneious R7: a bioinformatics platform for
M. Wang. biologists. C. Olsen.
1476S Identifying the master regulators of complex 1494S Assembly Hubs and Genome Browser in a
autoimmune disease susceptibility in Alopecia Areata Box Makes Viewing Private Annotations and Custom
with reverse-engineered regulatory networks. J. C. Sequences Easy. B. J. Raney.
Chen.
1495M Comparative transcriptome analysis reveals
1477M Global profiling of condition specific a proangiogenic compensatory mechanism for
transcription factor binding with ATAC-seq. R. Pique- increased placental vascularization in women with
Regi. reduced vasodilation. L. M. Rodriguez.
1478T A comprehensive and highly accurate RNA- 1496T Pilot data from the Virtual Genomics Clinic
Seq pipeline using a hybrid sequencing and algorithm (VGC). J. V. Thakuria.
approach. P. T. Afshar.
1497S Mega2: data reformatting for facilitating genetic
1479S Typing of PRDM9 in childhood cancers from linkage and association analyses. D. E. Weeks.
Next Generation Sequencing data. A. Ang Houle.
1498M Single Cell RNA-Seq analysis of Tumor
Composition. I. Ragoussis.
POSTER SESSIONS 139
1499T Standardized phenotyping enables rapid and 1516M Prediction consequences of amino-acid
accurate prioritization of disease-associated and substitutions in the IDS gene using in silico tools. A. C.
previously unreported sequence variants. W. P. Bone. Brusius-Facchin.
1500S Discovery and validation of mechanistic 1517T Investigating the relationship between allele
POSTER SESSIONS
underpinnings of cis-regulatory variants underlying frequency of benign variants used in training mutation
FTO association with type 2 diabetes and obesity risk. impact predictors and their stringency at calling
M. Claussnitzer. deleteriousness. A. Carroll.
1501M Fast and Accurate Site Frequency Spectrum 1518S Developing a new approach to transcriptomic
Estimation from Low Coverage Sequence Data. E. Han. characterization of mesial temporal lobe epilepsy
models through next-generation sequencing. B. S.
1502T Parallelization of genome-wide local ancestry Carvalho.
inference. R. Johnson.
1519M Comparative analysis of computational
1503S CliniCall - Bridging the Gap From High- pipelines for RNA sequencing in genetical genomics
Throughput DNA Sequencing to Actionable Variants. studies. J. Chen.
S. McGee.
1520T Bioinformatic analysis of novel pathogenic
1504M A Comparison of Genomes and Exomes and the missense mutation of ARSB gene in a Colombian
Impact on the Incidentalome. E. G. Farrow. patient with Maroteaux -Lamy. G. Giraldo.
1505T Diploid Alignment of Whole Human Genome 1521S Simultaneous detection of copy number
Data. P. J. Pemberton. variations (CNV) and point mutations with next
generation sequencing (NGS) using Agilent HaloPlex
1506S Evaluation of INDEL Callers for Next-Generation custom designs. C. Haag.
DNA Sequencing Data. R. L. Goldfeder.
1522M Gene-based burden analysis of imputed low
1507M Relationship detection with high-density SNP frequency variants identifies associations with LDL in
genotypes obtained from sub-nanogram amounts of an African American cohort. H. Hakonarson.
fragmented DNA. D. J. Witherspoon.
1523T NIH Genetic Testing Registry (GTR): A data mine
1508T Quantifying mitochondrial copy number using available through programmatic access. B. Kattman.
next-generation sequencing data. P. Billing-Ross.
1524S Impact of statin on gene expression in human
1509S An accurate and integrative computational lung tissues. J. Lane.
approach for cancer genome studies. L. T. Fang.
1525M A network approach to investigate the
1510M Accurate Randomized Dimension Reduction respective roles of common and rare variants in
with Applications to Linear Mixed Model Corrections of Attention-Deficit/Hyperactivity Disorder. L. A. Lima.
eQTL Data. G. Darnell.
1526T Optimizing an imputation panel for admixed
1511T Evaluation of a genotyping array design for Latin American populations. W. Magalhães.
tagging common variation across Africa. T. Carstensen.
1527S Functionally characterizing common variants
1512S StrandOmics: Accelerating clinical interpretation associated with psychiatric disorders. J. Moore.
and reporting though integration of genomic,
structural, functional and phenotypic information. S. 1528M A network-based approach to dissect the cilia/
Agrawal. centrosome complex interactome. M. Morleo.
1513M Performance survey of protein mutational 1529T Identification and Clinical Assessment of
prediction methods. D. A. Baird. Deletion Structural Variants in Whole Genome
Sequences of Acutely Ill Neonates. A. C. Noll.
1514T A bioinformatics approach to prioritizing
candidate explanatory variants in whole genome 1530S Protein functional domain annotation in single
sequences from patients affected with rare diseases. gene association in Parkinson Disease. K. Nuytemans.
D. Bodian.
1531M Large pedigrees in human sequencing studies:
1515S Comparisons on whole exome capturing toward a more resolved and accurate picture of
homogeneity among different versions of capturing genetic disease. J. A. O’Rawe.
kits and populations. M. G. Borges.
1532T Novel bioinformatics driven imaging-genetics
approach exploring the aetiology of Alzheimer’s
disease. S. Patel.
140 POSTER SESSIONS
1533S Non-coding RNAs and transcription expression 1549M A `-cell specific protein subnetwork
underlying neuropathic pain following sciatic nerve significantly enriched for association with GLP-1
injury. H. B. Raju. stimulated insulin secretion: A DIRECT study. V.
Gudmundsdottir.
1534M Unrevealing the genomic architecture of
chromosomal breakpoint region using multiparametric 1550T Analysis of Whole Exome Datasets to Test
computational approach. R. M. Rawal. the Hypothesis of Digenic Inheritance in Stargardt
Disease. K. Lee.
1535T Assessing the hidden genome architecture
of structural variants with Globus Genomics Galaxy 1551S Efficiency of exome sequencing for the
pipelines. A. Rodriguez. molecular diagnosis of Pseudoxanthoma Elasticum.
M. j. Hosen.
1536S Integrative Analysis of Cancer Genetic Data for
Drug Discovery. S. Saisanit. 1552M Unraveling Genetic Architectures Spanning
Mendelian and Complex Phenotypes with Data Driven
1537M Identification of differentially methylated genes Electronic Medical Record Validation. B. S. Glicksberg.
potentially associated with neurological diseases. W.
Souza. 1553T Integration of GWAS signals, measures of
polymorphic structure and linkage disequilibrium to
1538T Genome-Wide Association Study Of discover clinically relevant biomarkers and improve
Cerebrospinal Fluid Prostatic Acid Phosphatase identification of causal variants. M. W. Lutz.
Levels. L. A. Staley.
1554S The Utah Genome Project is successfully
1539S European Psoriasis Differences are Defined by discovering and diagnosing genetic disease using
Variation in the Epidermal Differentiation Complex. C. VAAST, pVAAST and Phevor. M. V. Singleton.
E. Tanes.
1555M GWAS analysis of epigenetic age acceleration.
1540M Exploiting whole exome-seq data for variant A. Lu.
discovery from highly divergent regions in the human
genome. S. L. Tian. 1556T Differentially Expressed Genes in Asthma Differ
by Tissue-type. T. B. Mersha.
1541T An in silico Post-GWAS Analysis of C-Reactive
Protein Loci: a Pipeline of Sequential Bioinformatics- 1557S Smoking-related microRNAs and mRNAs in
Based Approaches. A. Vaez. human peripheral blood mononuclear cells. M. W. Su.
1542S The Variant Characterization of 211 Whole 1558M The mitochondrial mutational landscape of
Genome Sequences: The Cache County Study on human cancer and its impact on tissue- and tumor-
Memory Health and Aging. M. E. Wadsworth. specific gene expression. S. Grandhi.
1543M Genome-wide haplotype-based association 1559T Somatic Mutation Detection by Whole Exome
study in Chinese Han population identified novel Sequencing in Patients with Adult-onset Still’s Disease.
susceptibility locus for systemic lupus erythematosus. Z. Deng.
Y. Wang.
1560S Weighted gene co-expression network analysis
1544T Next-Generation Sequencer Analysis: The suggests white matter might play a role in epilepsy and
Accurate Somatic SNV Detecting Workflow. M. episodic motor disorders. L. Silveira-Moriyama.
Yamaguchi.
1561M Novel intergenic large non-coding RNAs
1545S Identification of recurrent drive gene fusions in (lincRNA) in Human Retina and RPE/Choroid. L. Tian.
melanoma using RNA-Seq data. T. Zhang.
1562T Gene variant modification in keratinocyte cell
1546M Application of gene expression deconvolution samples irradiated by UV using RNA-seq. V. Mijatovic.
to the translation of gene expression signatures from
pre-clinical models to the clinic. C. Campbell. 1563S TRRUST: A reference database of human
transcriptional regulatory network. H. Han.
1547T Whole Exome Sequencing in Two Siblings with
Developmental Regression and Hypermetabolism. S. 1564M MokaSeq: Initial validation of the sequence
Jougheh Doust. analysis module of an NGS software platform for
clinical diagnostics. J. W. Ahn.
1548S Genome-wide association study of serum
metabolites using non-targeted metabolomics to 1565T Combining callers across different sequence
identify new metabolic loci. L. Lind. contexts improves somatic SNV detection. K. Arora.
POSTER SESSIONS 141
1566S Functional interpretation of variant and non- 1584S Detection of Copy Number Variations in Cancer
variant positions in whole-exome sequencing data. M. Genomes from High Throughput Sequencing Data. G.
Delledonne. Klambauer.
1567M Reducing INDEL errors in whole-genome and 1585M Efficient variant pipeline for diagnosis of
POSTER SESSIONS
exome sequencing. H. Fang. inherited cardiomyopathies associated genes using
Ion Torrent PGM™ platform. L. Cerdeira.
1568T Single-nucleotide mosaicisms in whole-genome
sequences of clinically unremarkable individuals. Y. 1586T Assessing novel centromeric repeat sequence
Huang. variation within individuals by long read sequencing.
K. H. Miga.
1569S A Next-Gen Sequencing Software Workflow for
Gene Panel Validation Control. M. Keyser. 1587S Anchored Assembly: An algorithm for large
structural variant detection using NGS data. J. Bruestle.
1570M Whole Genome Sequencing of 30 Admixed
Brazilians. M. Machado. 1588M Short inversion detection by splitting and re-
aligning poorly mapped next-generation sequencing
1571T IntSplice: A tool to predict aberrant splicing of reads. R. Chen.
an SNV at intronic positions -50 to -3. K. Ohno.
1589T Reproducible and repurposable toolkit of
1572S Next generation sequencing approach to structural variant callers applied to 3,751 whole
molecular diagnosis of auto-inflammatory diseases: genomes and 10,940 whole exomes. S. Ma.
from gene panel design to variant call. M. Rusmini.
1590S Orthogonal Resequencing Support of Structural
1573M From NGS back to Sanger Sequencing: Variation in a Personal Genome. W. J. Salerno.
Connecting and Synchronizing NGS and CE Variant
Files with the Primer Designer Tool. E. Schreiber. 1591M Copy Number Variation Analysis using Single
Cell Sequencing. X. WANG.
1574T A practical method to detect SNVs and indels
from whole genome and exome sequencing data and 1592T A Convergent Clinical Exome Pipeline
an importance of in-house data for variant filtering. D. Specialised for Targeted Gene Analysis. J. Plazzer.
Shigemizu.
1593S An ensemble variant calling approach to 10,000
1575S Group-based Variant Calling for a Large low coverage whole genomes. Z. Huang.
Cohort of Human Whole Genomes Leveraging Next-
Generation Supercomputing. K. A. Standish. 1594M Likelihood-based filtering of indels and
structural variants by leveraging Mendelian inheritance
1576M Repeat-Aware Hidden Markov Models for the and transfer learning. H. Kang.
Comprehensive Joint Calling of SNPs, Indels, and
Short Tandem Repeats. A. Tan. 1595T Strength in Numbers: Efficiency and
Quality Improvements in Clinical Whole Genome
1577T Describing complex rearrangements using Interpretation. E. Ramos.
HGVS sequence variation nomenclature, suggested
extensions. P. E. Taschner. 1596S Effective filtering strategies to improve
data quality from population-based whole exome
1578S Comparing variant filters from transcriptome sequencing studies. E. Smith.
and exome sequencing data. N. Thomson.
1597M Computational validation of NGS variant calls
1579M Combining sets of indels with improved using genotype data. M. A. Taub.
specificity and sensitivity using BAYSIC. D. Weaver.
1598T Blood vs Saliva: Analysis of the Effect of Sample
1580T CNV Detection Assessment. J. White. Type on Variant Calling Confidence for Human Whole
Genome Sequencing. M. Tayeb.
1581S Cloud-based variation analysis using SRA
sequencing data directly. C. Xiao. 1599S High resolution HLA genotyping software
for exome and whole genome sequencing data. K.
1582M Low false-positive rate chromosomal structural Kryukov.
variation detection procedure with statistical
comparisons between case and control using paired- 1600M Using haploid human DNA to design and
end reads. K. Yamagata. evaluate the HiSeq X data processing strategy. M. O.
Pollard.
1583T Multiplexing strategies for HLA genotyping
using DNA barcoding methods for SMRT® sequencing.
S. Ranade.
142 POSTER SESSIONS
1601T Genotyping Complex Markers for Drug 1618M Naturally Hyperactive Transposase and
Absorption, Distribution, Metabolism and Elimination its Application to High Coverage Whole Genome
with the Axiom® Genotyping Platform. J. Gollub. Sequencing With Low DNA Input. A. Belyaev.
1602S PHENOVAR: a phenotype-driven approach 1619T Exome Capture with Accelerated Hybridization
to facilitate routine utilization of clinical exome Provides Same-Day Generation of High Performance
sequencing for the diagnosis of polymalformative Target-Enriched NGS Libraries. M. C. Borns.
syndromes. C. Buote.
1620S A comprehensive comparison of commercially
1603M Single molecule reconstruction and variant available hybridization and amplification based exome
detection of less than 1 genome in 1000. K. R. enrichment methods. T. Guettouche.
Covington.
1621M Korean Reference Genome Project: Design and
1604T Detection of common and low frequency Population Genome Variants. K. Hong.
variants in cancer samples with SNPPET using NGS
target enrichment data. A. Lnu. 1622T Resolving the ‘Dark Matter’ in Human Genomes
through Long-Read Sequencing. J. Korlach.
1605S Identification of common non-synonymous
SNPs in proteomic datasets and their use to obtain 1623S A new method for low-input, PCR-free NGS
measures of individualization and biogeographic libraries with exceptional evenness of coverage. L.
background. G. Parker. Kurihara.
1606M SNP and CNV Detection in Trisomy 21 1624M Understanding and adopting updates in the
Individuals Using a First-Principles Approach. Y. A. human reference genome assembly (GRCh38). V. A.
Jakubek. Schneider.
1607T Variant Detection and Validation in RNA-Seq 1625T The Ion PGM™ Hi-Q™ Sequencing Polymerase:
Data. F. Schlesinger. Reducing Systematic Error, Increasing Accuracy, and
Improving Read-length. P. B. Vander Horn.
1608S An Evaluation of Splice Prediction Software
Accuracy Using in vivo Data from Patients with 1626S Third generation sequencing and analysis of
Osteogenesis Imperfecta. J. Schleit. complete mitochondrial genomes. E. P. Hoffman.
1609M Higher power and efficiency of whole genome 1627M Full-length, single molecule whole
sequencing over whole exome sequencing to detect transcriptome sequencing reveals alternative 5’-
SNVs in exonic regions. A. Belkadi. start sites, splicoforms, and poly(A) addition signal
sequences. D. J. Munroe.
1610T Evaluation of the Illumina NextSeq500 for Rapid
Whole Genome Sequencing. S. Dames. 1628T Preliminary analysis for the evaluation of risk
prediction methods using SNP-based genomic profiles
1611S Benchmarking of DNA short read aligners on data. R. Arguello.
GCAT data sets. R. Gupta.
1629S Development of a comprehensive, ontology-
1612M A comparison of commonly used alignment driven phenotyping system and web-based patient
algorithms using 15 whole genome sequences. B. D. registry for Fanconi anemia. A. D. Auerbach.
Pickett.
1630M RD-Connect platform and standardized exome-
1613T A comprehensive comparison of RNA-seq and phenome analysis pipeline: application to 20 use
microarray in transcriptome profiling of rat livers cases. S. Beltran.
exposed to a broad range of agents. C. Wang.
1631T Pathway approaches to strengthen genetic
1614S Implementing an NGS Bioinformatics Pipeline: variation analysis. E. Cirillo.
Making the Transition from Research to Clinical. L.
Watkins. 1632S Mutiple-trait genomic selection and phenotype
prediction. A. Dahl.
1615M Amplicon based 16S ribosomal RNA
Sequencing and Species Identification. J. Dickman. 1633M Scaling up genomic data management,
indexing, and analysis for a million genomes. F. De La
1616T Super-resolution imaging technique mbPAINT Vega.
for DNA optical mapping. J. Chen.
1634T ClinGen database for curation of clinically
1617S Greatly improved de novo assemblies relevant genomic variants. X. Feng.
of eukaryotic genomes using PacBio long read
sequencing. E. Antoniou.
POSTER SESSIONS 143
1635S Efficient sharing of exome/genome variant and 1652T Metadata-driven tools to access data from the
phenotype data between diagnostic labs. I. F. A. C. ENCODE project. E. T. Chan.
Fokkema.
1653S Accessing ENCODE project data using a REST
1636M Design and Implementation of an Informatics API and JSON. C. A. Sloan.
POSTER SESSIONS
Infrastructure for Clinical Genomics Analysis and
Reporting. J. Hirsch. 1654M Beyond Flat Files: Creating a web-based data
API to simplify parsing and distribution of GTEx data.
1637T Functional interpretation of noncoding somatic T. Sullivan.
variants from cancer genomes. E. Khurana.
1655T Association data in dbGaP and Minimum-
1638S Update and expansion of Human Variation Required Information for Data Sharing. Z. Wang.
Database in Japanese Database Integration Program.
A. Koike. 1656S Genome in a Bottle: So you’ve sequenced a
genome, how well did you do? J. M. Zook.
1639M Exploring the genome-wide roles of
transcription factors and their complexes in 1657M Quantity or quality that is the question:
chromosome interaction. MJ. Li. integrative genome-wide association. A. M. Mezlini.
1640T Comparing blood and brain gene expression 1658T Cross-species genome and epigenome
networks in Huntington’s Disease by semantic visualization on WashU EpiGenome Browser. X. Zhou.
analysis. E. Mina.
1659S The Bio-LarK Patient Archive - Systematic
1641S Genetic Risk Prediction and Neurobiological phenotype data collection for Rare Disease Genomics.
Understanding of Alcoholism. A. Niculescu. A. Zankl.
1642M Analyst Portal - a real-time, distributed web 1660M Genetic predictive modeling of diabetes based
query tool that streamlines data search at a genomics on circulating glycemic measures. The Long Life
center. H. Qiu. Family Study (LLFS). A. T. Kraja.
1643T Phenotype terminologies in use for genotype- 1661T Changing patient behavior through
phenotype databases: A common core for comprehensive risk analysis with genomic and health
standardisation and interoperability. P. N. Robinson. data. H. Fakhrai-Rad.
1644S Data exploration through stark visualizations in 1662S Discover and access human genome sequence
gene expression profile of down syndrome. J. Rualo. with new NCBI services. S. Sherry.
1645M Evaluating global enrichment of trait-associated 1663M GenomeBrowse: A Comprehensive Community-

variants in epigenomic features. E. Schmidt. Driven Visualization Platform for NGS data and Public
Annotations. G. Rudy.
1646T A bioinformatic protocol for the study of rare
diseases. F. Tobar Tosse. 1664T A mutation in TBC/LysM associated domain
containing 1 (Tldc1) causes craniofacial abnormalities
1647S EnhancerDB: a database of human enhancers in mice. R. Zeng.
and their putative targets. P. Wang.
1665S Completing CpG methylation statuses in
1648M A highly efficient and scalable compute human and vertebrate genomes by integrating SMRT
platform for massive variant annotation and rapid sequencing kinetic data. S. Morishita.
genome interpretation. J. Warren.
1666M Sequencing of 50 rhesus macaques facilitates
1649T Investigating the genetic architecture of identification of new genetic models of human disease.
pulmonary arterial hypertension shared with other G. Fawcett.
diseases. L. A. Yancy.
1667T Identifying mouse models related to human
1650S Integrative genomic analysis of exome and disease. S. Rockwood.
RNA-seq data from multiple tissue sources obtained
from a single breast cancer patient. A. Vladimirova. 1668S FlyNet: a genome-wide functional gene network
for Drosophila melanogaster as a platform to explicate
1651M Limitation of multiple testing through the human GWAS gene candidates. J. Shin.
integration of TCF7L2 DNA occupancy and SNP
association data reveals GIP and CPPED1 as novel 1669M Benchmarking of isoform quantification tools
type 2 diabetes loci. M. E. Johnson. for GTEx using long read technologies. D. S. DeLuca.
144 POSTER SESSIONS
1670T Droplet Digital PCR: A new tool for quantitative 1688T Examination of the Performance of Whole
analysis of alternatively spliced mRNAs and pre-mRNA Genome Amplified DNA across Multiple Capture
processing. G. Karlin-Neumann. Methodologies and Sequencing Platforms. B. Hicks.
1671S Approach for limited cell ChIP-Seq on a 1689S Improved Exclusion Amplification Chemistry
semiconductor-based sequencing platform . S. Ghosh. Supports Sequencing TruSeq PCR-free Libraries for
Human Whole Genome Sequencing on Illumina’s HiSeq
1672M GEM.app: using hadoop to empower the X Ten System. A. C. Kwasniewska.
revolution of large-scale collaborative analysis and
data-sharing in the genomic age. M. Gonzalez. 1690M Lower Cost, Higher Throughput Library
Preparation with the Echo liquid handler® and the
1673T A Data Driven Approach to Precision Medicine. NuGEN Ovation® Single Cell RNA-Seq System. J. D.
P. Lum. Lesnick.
1674S Improved Small RNA Library Preparation 1691T Low to mid-throughput automation of
Workflows for Next-Generation Sequencing. S. Shore. hybridization based capture technologies using Apollo
324 NGS Library Prep System. M. Srinivasan.
1675M Enhanced fetal aneuploidy detection using
hardware accelerated alignment. M. Sykes. 1692S Sequencing Beyond the Read Length Officially
Supported on HiSeq 2500: the Error Profile and
1676T Platform comparison between Ion Proton and Remedy. W. Wang.
Illumina HiSeq 2500 on a 759-gene disease panel
across 248 samples. A. V. Uzilov. 1693M Genome-wide transcriptome enrichment
sequencing for research and clinical applications. H.
1677S Sparse sufficient dimension reduction and Doddapaneni.
matrix subset selection methods for big image data
analysis in cancer. N. Lin. 1694T Whole Genome Sequencing on DNA extracted
from Saliva: a systematic evaluation of SNV, CNV and
1678M A Genomics Analysis Pipeline for Cloud Structural Variant Calling. S. Germer.
Computing. R. J. Mashl.
1695S Precise Quantification of Bias in Whole-Genome
1679T A Comprehensive Bioinformatics and Data Amplification Using Droplet Digital™ PCR. N. Heredia.
Management Platform to Enable High Powered
Genomic Discovery. J. Kaufman. 1696M ThruPLEX-FD as high sensitivity library prep
tool for whole exome and target panel sequencing. J.
1680S Validation of a Series of Genomic StripAssays® P. Jerome.
to Salivary DNA Collection Using the DNA•SAL™
Device. P. D. Slowey. 1697T Identify enhancer elements at genome-wide
scale using MIT-seq. X. Wu.
1681M Direct to PCR Genomic Analysis Using Saliva
Derived Samples. G. A. Thomas. 1698S Contiguity Preserving Transposition Sequencing
(CPT-seq): Haplotype-resolved sequencing and
1682T Spatially Encoded Assays. M. S. Chee. assembly. J. Fisher.
1683S Development of a novel methodology for RNA- 1699M A Method for Selectively Enriching Microbial
microbiome enrichment. L. Ettwiller. DNA from Contaminating Vertebrate Host DNA. E. Yigit.
1684M Extremely low-coverage whole genome 1700T Woman endometrium biopsy immediate single-
sequencing in South Asians captures population cell analysis. K. Krjutskov.
genomics information. N. Rustagi.
1701S High Accuracy Variant Detection using HaloPlex
1685T Advancing Clinical Diagnostics Using Whole with Molecular Barcodes. h. johansson.
Exome Sequencing. D. Muzny.
1702M Immune sequencing protocol for complete
1686S Next generation sequencing in a diagnostic B-cell and T-cell repertoire sequencing. F. J. Stewart.
laboratory: Pros and cons of enrichment technologies.
B. P. Dworniczak. 1703T Optimized DNA extraction and repair improves
the yield and quality of sequencing libraries derived
1687M Unique Haplotype structure determination in from FFPE samples. L. Chen.
human genome using Single Molecule, Real-Time
(SMRT) sequencing of targeted full-length fosmids. K. 1704S Targeted enrichment of forensically relevant
Eng. STRs for improved human DNA profiling. M. R.
Nandineni.
POSTER SESSIONS 145
1705M Spatially resolved single cell miRNA expression
analysis in tissue sections. M. Asp. Statistical Genetics and
Genetic Epidemiology
1706T Microbial detection using Affymetrix’ Axiom®
Genotyping Solution. M. Shapero.
POSTER SESSIONS
1722S Identification of rare causal variants in
1707S Design of a biobanking genotype array sequence-based studies: methods and applications
optimised for Chinese populations. R. G. Walters. to VPS13B, a gene involved in Cohen syndrome and
autism. I. Ionita-Laza.
1708M High Performance Micro RNA Enrichment using
Solid Phase Reverse Immobilization Magnetic Bead 1723M Effect of Haplotype Estimation in Exact Tests
Technology. B. N. Lee. for Association. L. Ehwerhemuepha.
1709T Standardizing High-Throughput Sequencing of 1724T Bootstrap Tests of Association For NextGen
Extracellular RNA from Human Plasma. Y. E. Wang. Sequence Data That Allow for Systematic Differences
in Read Depth between Cases and Controls. G. A.
Satten.
1710S RNA “SEQing” answers in the blood
transcriptome: Benchmarking methods for globin
message reduction. N. Allaire. 1725S Binary Trait Analysis in Sequencing Studies
under Trait-Dependent Sampling. Z. Z. Tang.
1711M Very Low Input RNA-Seq is Enabled by Digital
Microfluidics. T. M. Hill. 1726M Functional regression for genetic association
studies. O. Vsevolozhskaya.
1712T Analysis of PCR duplicates and Library Diversity
in RNA-Seq studies using very low input and degraded 1727T A Generalized Similarity U test with application
samples. S. Pathak. to multiple-trait sequencing association study. C. Wei.
1713S SureSelect Clinical Exome Panels for NGS 1728S Utilizing Private Variants in Large Genome-Wide
Research Applications. E. Lin. Association Studies: Issues, Techniques, Experiences.
U. Bodenhofer.
1714M Flexible Content TaqMan® Pathway Panels. M.
Laig. 1729M A non-threshold region-specific method for
detecting rare variants. D. P. Chen.
1715T Design and implementation of a transplantation-
targeted whole genome genotyping array. A. Shaked. 1730T Evaluating the calibration and power of three
gene-based association tests for the X chromosome.
C. Ma.
1716S Performance of seven mutation pathogenicity
prediction methods in the classification of missense
variants of the CYP1B1 gene. G. Chavarria-Soley. 1731S Exploiting correlation of genetic effects in rare
variant association studies. M. A. Rivas.
1717M A Comprehensive IT System to Support GTEx
Biospecimen Collection Operations. P. Guan. 1732M Integrated statistical model of genetic variation
reveals new insights into the genetics of autism. X. He.
1718T Clinical phenotype-based gene prioritization
using semantic similarity and the Human Phenotype 1733T Meta-Analysis of rare variants association
Ontology. A. Masino. studies with multiple correlated traits. X. Wang.
1719S The Orphanet Rare Diseases Ontology (ORDO) 1734S Haplotype length regression for identifying rare
: a reference tool integrating clinical and genetic data. disease-predisposing variants. S. P. Sajuthi.
A. M. Rath.
1735M A fast and powerful test of independent
1720M Comprehensive Transcriptome Analysis assortment with implications for the analysis of ‘big
Reveals that Nonsense-Mediated mRNA Decay Is Not data’. V. Hager.
Globally Suppressed in Lung Adenocarcinomas. L. Hu.
1736T Generation of sequence-based data for
1721T Combined use of mutant loxP sites, JT15 and pedigrees-segregating Mendelian or Complex traits.
JTZ17, is a useful approach for sophisticated genome B. Li.
engineering. K. C. Chen.
1737S GenLib: an R package for the analysis of
genealogical data. M.-H. Roy-Gagnon.
1738M Genotype calling and phasing in sequence data

from complex families. L. Chang.
146 POSTER SESSIONS
1739T Assessing mitochondrial DNA variation and 1756M Genome-wide association study in West
copy number in lymphocytes of 2,077 Sardinians using Africans identifies SEMA4D as a susceptibility gene for
tailored sequencing analysis tools. J. Ding. Obesity. G. Chen.
1740S Improving effective sample size using 1757T Effect Fine Mapping: a method to identify
extrapolated log p-values. B. Engelhardt. association-driving variants in large genomic datasets.
N. A. Patsopoulos.
1741M Alternative peak calling methods on Hi-C data
accommodating the whole spectrum of dispersion. Z. 1758S The study of epistasis and pleiotropic effects
Xu. using multi-association for metabolic syndrome in
Korean population-based cohort. Y. Lee.
1742T Haplotype based fine mapping algorithms using
meta-analysis summary results. J. Zheng. 1759M Analysis of pleiotropy at a fine genomic scale.
D. J. Balding.
1743S PedBLIMP: A Linear Predictor based Approach
to Impute Genotypes in Pedigrees. W. Chen. 1760T Development of efficient polygenic risk scores
for personalized medicine: methodological concepts
1744M Detecting maternal-offspring gene interactions and examples. K. Fischer.
using linear mixed effect models: The Quantitative-
MFG Test. M. M. Creek. 1761S A Proper and Efficient Approach to Integrative
Analysis of Sequencing and GWAS Data for Rare
1745T On the null distribution of Bayes factors. Y. Variant Associations. Y. J. Hu.
Guan.
1762M Genetic Studies of Functional Quantitative Trait
1746S Mixed model with correction for case-control with both GWAS and Next-Generation Sequencing
ascertainment increases power in multiple sclerosis Data. D. Lee.
association study. T. Hayeck.
1763T Genotype risk score may mislead physiological
1747M GARFIELD - GWAS Analysis of Regulatory or interpretation of quantitative trait associations. N.
Functional Information Enrichment with LD correction. Wang.
V. Iotchkova.
1764S Development and application of a population
1748T Comparison of machine-learning methodologies based statistical framework addressing the n=1
to prioritize genetic variants based on functional data. problem in human genetics. A. B. Wilfert.
S. A. Gagliano.
1765M Meta-analysis on polygenic effects. J. H. Zhao.
1749S A mixed model methodology to correct
technical artifacts and enable meta-analysis of 1766T Estimation of causal effects distribution from
sequence based association studies. C. Murphy. genome-wide association studies. L. Zhang.
1750M Sparse heterogenetic sequence association 1767S Modeling Linkage Disequilibrium Increases
mapping with arbitrary population structure and Accuracy of Polygenic Risk Scores. B. J. Vilhjalmsson.
cryptic relatedness. H. Qin.
1768M Mediation Analysis of Integrated Genetic and
1751T Estimation of prognostic marker genes by Genomic Data in the Presence of Missing Data. R.
public microarray data in patients with ovarian cancer Barfield.
epithelial. S. Yang.
1769T Discovering Disease Susceptibility Genes Using
1752S Modeling Temporal Changes in Phenotypes in Predictors of the Transcriptome - PrediXcan. H. K. Im.
Pediatric Populations. R. Hoffmann.
1770S Statistics for genetic association in the
1753M A novel meta-analysis approach for genome- presence of covariates - genome scanning
wide association studies with sex-specific effects. E. considerations. H. Lin.
Kang.
1771M Addressing Potential Bias in Heritability
1754T Mapping of novel regulatory influences on genes and Coheritability Estimates within Ancestrally
encoding subunits of the L-type calcium channel, Homogeneous Populations. J. Liu.
using digital measurement of allelic skew. N. Kamitaki.
1772T A new prognostic model to predict renal
1755S A Candidate Pathway Approach Identifies outcome in autosomal dominant polycystic kidney
Multiple Gene-Environment Interactions in Association disease (ADPKD). E. Cornec-Le Gall.
with Colon Cancer Risk and Survival. N. Sharaf Eldin.
POSTER SESSIONS 147
1773S A fast and accurate p-value imputation 1791S Linkage disequilibrium clustering can improve
approach for genome-wide association study. J. Kwan. power of weighted-sum-type multi-marker tests for
genetic association analysis. Y. Yoo.
1774M Generalized likelihood ratios ensure statistically
and clinically significant findings: application to 1792M A unified analysis approach for X-chromosome
POSTER SESSIONS
genetic association with cystic fibrosis lung disease. that accounts for random, skewed and escaping of
W. Li. X-chromosome inactivation. J. Wang.
1775T Fine-mapping of additive and dominance effect 1793T Efficient Detection of Allelic Imbalance from
SNPs using group-LASSO and Fractional Resample SNP microarrays. C. Hahn.
Model Averaging. J. A. Sabourin.
1794S Imputing phenotypes for genome wide
1776S Allele Specific Expression Can Reduce Apparent association studies. F. Hormozdiari.
Genotype/Phenotype Relations: A Simulation Study. J.
L. Dannemiller. 1795M Quality and accuracy assessment for NGS data
analysis and interpretation. J. Li.
1777M Parent of origin and recurrence risk bias:
probabilistic modeling explains the broken symmetry 1796T A comprehensive survey of genetic variation
of transmission genetics. C. Shaw. in 20,769 subjects from the Harvard Cohorts. S.
Lindstrom.
1778T What are genome-wide association studies
detecting? Our experience predicting cystic fibrosis- 1797S Heteroscedastic Extreme Sampling Strategy in
related diabetes onset. D. Soave. Target Sequencing Studies. W. Ouyang.
1779S Test of Genotypic Association Allowing for 1798M Use of exome sequencing data for the analysis
Errors. L. Zhou. of population structures, inbreeding, and familial
linkage. V. Pedergnana.
1780M Statistical method for analyzing allele-specific
expression across individuals for multiple statuses. Y. 1799T GENESIS: a French national resource to study
Lee. the missing heritability of breast cancer. N. Andrieu.
1781T A New Approach to finding Association with 1800S Survival monitoring during the first year of life of
Complex, Longitudinal Phenotypes using Population infants with birth defects in a high complexity hospital
Data. A. M. Musolf. of the city of Cali, Colombia, 2012-2013. F. Ruiz.
1782S Multiple testing procedures for GWAS with high- 1801M The simulation of the confounding effect on
dimensional phenotypes. C. B. Peterson. cryptic relatedness for environmental risks in cohort
studies. K. Shibata.
1783M Making use of parental phenotypes in case-
parent genetic studies. M. Shi. 1802T Assessing the potential impact of low
participation in DNA buccal swab collection on the
1784T Efficient multiple imputation for missing validity of effect estimates. M. M. Jenkins.
phenotype using genome-wide DNA methylation data.
W. Guan. 1803S The Million Veteran Program (MVP): A National
Resource for Genomic and Epidemiological Research.
1785S Using local multiplicity to improve effect S. Muralidhar.
estimation from a hypothesis generating study. W. Zou.
1804M Genotype imputation performance in multiple
1786M Confounded by Ancestry? Considerations for ethnicities via comparing with whole-genome
Ancestry Adjustments in Genetic Association Tests. E. sequencing data. H. Zhan.
R. Martin.
1805T A Strategy for Testing Zero Variance
1787T Towards Estimation of the all-Phenotype by all- Components with Application to QTL Association
Phenotype Genetic Correlation Matrix. B. Bulik-Sullivan. Mapping in Admixture Population. J. Zhou.
1788S Effective genetic risk prediction using mixed 1806S Estimating base-calling error rates in next-
models. D. Golan. generation sequencing data using overlapping read
pairs. Y. Y. Lo.
1789M Allele-specific DNase I hypersensitive sites
exhibit H3K27ac enrichment in GM12878. J. M. Peralta. 1807M Overcoming Systematic Miscalibration of Linear
Mixed Model Test Statistics in Genetic Association
1790T Genetic modifiers in TGF pathway affect Studies by Leveraging Ancestry Representative
disease severity in Duchenne Muscular Dystrophy. J. Principal Components. M. P. Conomos.
Punetha.
148 POSTER SESSIONS
1808T Evaluation of population stratification in a large 1825M Accurate Error Rates: Calculating
biobank linked to Electronic Health Records. M. de Reproducibility by Minor Allele Frequency. J. Romm.
Andrade.
1826T Factors affecting relative telomere length
1809S Effects of Genotype Uncertainty on Statistical measurements by quantitative PCR. C. L. Dagnall.
Analysis of Variant Association Studies. C. Palmer.
1827S Identifying relative pairs within large datasets.
1810M Assessing the power of the Affymetrix Axiom® Z. Zeng.
CEU array for studying rare and low-frequency variants
in a European population sample. B. Schormair. 1828M Leveraging Family Structure for the Analysis
of Rare Variants in Known Cancer Genes from WES
1811T Addressing population-specific multiple testing of African American Hereditary Prostate Cancer. C. D.
burdens in genetic association studies. R. S. Sobota. Cropp.
1812S Statistical tests for GWAS in small, admixed 1829T Detection of meiotic breakpoints in families
populations. L. Skotte. using dense genotyping data. N. Mukhopadhyay.
1813M The Power Comparison of the Haplotype-based 1830S PIX-LRT: A parent-informed test for SNPs on
Collapsing Tests and the Variant-based Collapsing the X chromosome using case-parent triads. C. R.
Tests for Detecting Rare Variants in Pedigrees. W. Guo. Weinberg.
1814T Variation in estimates of kinship observed 1831M Simulation Analysis to Assess Linkage Results
between whole-genome and exome sequence data. of Class III Malocclusion and Human Chromosome 11.
E. Blue. L. K. AlOthman.
1815S Quality control procedures for Whole Exome 1832T Rare Variant Association Test for Nuclear
Sequencing Studies with application to a large family- Families. Z. He.
based study: The International Consortium of Prostate
Cancer Genetics (ICPCG) Study. SK. McDonnell. 1833S The collapsed haplotype pattern method for
linkage analysis of next-generation sequencing data.
1816M Reduction of systematic bias in transcriptome G. T. Wang.
data from human peripheral blood mononuclear cells
for transportation and biobanking. H. Ohmomo. 1834M Identifying rare variants in linkage regions
through pedigree-based conditional linkage analysis.
1817T A Two Step Framework for Integrative Analysis C. W. Bartlett.
of Genome Wide Methylation and Genotyping Studies.
N. Zhao. 1835T A general framework for group-wise
transmission/disequilibrium tests for identifying rare
1818S Measuring population stratification in the variant associations. R. Chen.
Brazilian population: how accurate can we be? L.
AlvaradoArnez. 1836S Rare Variant Association Analysis of
Quantitative Traits in Pedigrees of Arbitrary Size and
1819M Genotyping of the UK Biobank resource, a Structure. Y. Jiang.
large extensively phenotyped population collection. D.
Petkova. 1837M Dissecting the Genetic Architecture of
Longevity with Millions of Individuals. J. Kaplanis.
1820T Spurious cryptic relatedness can be induced
by population substructure, population admixture and 1838T Adaptive Combination of P-values for Family-
sequencing batch effects. D. Zhang. based Association Testing with Sequence Data. W. Lin.
1821S Correcting for population stratification 1839S Exome sequencing in an isolated population
in secondary genetic association studies using reveals multiple rare variants affecting both high-
subsamples. M. C. Babron. density lipoprotein cholesterol and the levels of certain
blood metabolites. E. M. van Leeuwen.
1822M Correction for population stratification and
relatedness in case-control studies using logistic 1840M Efficiently Incorporating Annotation Information
mixed models. H. Chen. into the Analysis of Genomic Sequence Variants in
Pedigree Samples. Q. Li.
1823T Control of population stratification in family
data using pedigree information and ancestry principal 1841T Efficient gene-gene interaction test for
components. C. Wang. discordant sib pairs in genome-wide association
studies. R. Chung.
1824S Optimal strategies for studying singletons
associated with quantitative traits. S. Rashkin.
POSTER SESSIONS 149
1842S Robust and powerful family test for rare variant 1860S Study design and statistical tests for detecting
association. K. Lin. gene-environment interaction on environmental
exposure-defined phenotypes. C. Chen.
1843M Family-based rare variant association methods
for quantitative traits in the presence of population 1861M A simulation study of gene-by-environment
POSTER SESSIONS
structure. W.-M. Chen. interactions in GWAS implies ample hidden effects. U.
M. Marigorta.
1844T TIMBER - personalized computationally-efficient
filtering of GERMLINE-discovered putative IBD 1862T A novel functional data analysis approach to
segments. M. Barber. detecting gene by longitudinal environmental exposure
interaction. P. Wei.
1845S Statistical Tests for Co-Segregation of Genetic
Variants with Disease in Pedigrees. D. Schaid. 1863S GWAS for a longitudinal trait with non-uniform
errors: Recovery of CD4 cell counts after initiation
1846M Cross pedigree shared ancestry reveals rare, of anti-retroviral therapy in two Ugandan cohorts. J.
disease-causing variants in the presence of locus Mefford.
heterogeneity. H. J. Abel.
1864M Detecting clusters of disease-associated SNPs.
1847T Increasing Power to Detect Rare Variant D. Swanson.
Associations by Integrating Linkage Data: A Bayesian
Approach. S. Lutz. 1865T Biochemical network-driven analysis of genetic
control of human metabolome. Y. A. Tsepilov.
1848S Impact of screening for precancerous lesions on
family-based genetic association tests: an example of 1866S Joint Analysis of Genetic Interaction and
colorectal polyps and cancer. S. L. Stenzel. Imprinting in Family Studies. C. C. Wu.
1849M TITLE: Familial aggregation of blood pressure 1867M Gene-gene interactions in admixed populations.
in Ramadasia population of north-west Punjab. R. E. Ziv.
KUMAR.
1868T Integration of multiple types of functional
1850T Mixed Model Association Mapping on the X annotation with genotype data in genetic association
Chromosome. C. McHugh. studies at gene and pathway levels. Y. Guo.
1851S lincRNA-mRNA transcriptional regulatory 1869S Identification of shared genetic aetiology

co-expression network from RNA-seq data in 624 between epidemiologically linked disorders with an
Sardinian individuals. P. Forabosco. application to obesity and osteoarthritis. J. Asimit.
1852M Sample-specific gene co-expression networks 1870M Multilevel dimensionality reduction algorithms
controlling for confounding effects. C. Gao. for high-dimensional genetics data. K. Cho.
1853T Random forest for genetic analysis: Integrating 1871T Estimating genetic distance-dependent effects
the X chromosome. G. Jenkins. of environmental exposures by functional models. D.
Zaykin.
1854S Integrative Metabolomics of Asthma Severity
using Bayesian Networks. J. Lasky-Su. 1872S Multivariate approach for finding gene sets
differentially expressed by complex phenotype. E.
1855M Closed-form Wald tests for genome-wide Drigalenko.
analysis of gene-gene interactions. Z. Yu.
1873M Estimating and interpreting pairwise genetic
1856T Gene based analyses of sympathetic nervous correlations between hundreds of quantitative traits
system genes on long term blood pressure: The from population samples of thousands of individuals.
GenSalt study. C. Li. M. Pirinen.
1857S Rapid Variance Component Aggregation Test 1874T Systemic genetics of Systemic Sclerosis
(RVCAT) for evaluating interaction effects of rare- through protein-protein interaction network-based
variants. R. Marceau. analysis. J. HAMON.
1858M Studying the elusive exposome and its 1875S Mixed-model analysis of common variation
interaction with the genome in large-scale. C. J. Patel. reveals pathways explaining variance in AMD risk. J.
Hall.
1859T To evaluate the determinants of pre-
hypertension and hypertension among Punjabi 1876M A non-parametric approach for detecting
adolescent population using path analysis and gene-gene interactions associated with age-at-onset
structural equation modelling. S. K. Brar. outcomes. M. Li.
150 POSTER SESSIONS
1877T Estimation of Heritability and Association for 1894M Rapid radiation of common Eurasian Y
Quantitative Traits with Repeated HbA1c Measures: chromosome haplogroups occurred significantly later
Biomarker for Metformin Response. L. Wu. than the out of Africa migration. M. Järve.
1878S Genome-Wide Association and Gene-Gene 1895S Ancestral Components of Admixed genomes
Interaction Studies to Explore Etiology of Glaucoma of Chileans from Northern and Central Chile - The
and Ocular Hypertension. S. Verma. ChileGenomico Project Release 1. R. A. Verdugo.
1879M Major-Effect Loci for Lipids also Impact 1896M High degree of admixture in an urban Brazilian
Phenotype Variability in the Old Order Amish. L. Yerges- population. M. B. Melo.
Armstrong.
1897S Whole genome association and genetic
1880T An integrative imputation method for multi-omic admixture analysis of EEG phenotypes in a Native
datasets. D. Lin. American community sample. Q. Peng.
1881S Combining allele-specific and population signal 1898M A Genome Wide Admixture Association Study
boosts power for association mapping of multiple DNA of a Sleep Disturbance Phenotype in Adults with Sickle
sequence-based cellular traits. N. Kumasaka. Cell Anemia. C. Liu.
1882M Combining the association and ancestry signals 1899S Use of Long-read-sequence Aided Phasing
through a multivariate model. S. Eyheramendy. for Inference of Ancestry Assignment in Admixed
Populations. F. L. Mendez.
1883T Explaining missing heritability using Gaussian
Process Regression. K. J. Sharp. 1900M Characterizing the Local Ancestry of
Established Multiple Sclerosis Risk Loci in Hispanics.
1884S Comparison of GWAS results from imputed A. H. Beecham.
SNPs and multiple anchor and partner genotyped
SNPs in an isolated population, Samoa. R. L. Minster. 1901S Linear Mixed Model-Based Admixture Mapping.
L. Brown.
1885M Incorporating Functional Information in Tests of
Excess De Novo Load. Y. Jiang. 1902M Genetic evidence of archaic admixture in India.
A. Basu.
1886T Beyond random effects meta-analysis:
explaining why effect sizes differ between studies. E. 1903S Pharmacogenomic patterns for Brazilian and
Eskin. Mexican populations. V. Bonifaz.
1887S Association mapping from sequencing reads 1904M The genetic ancestry of African, Latino, and
using k-mers. A. Rahman. European Americans across the United States. K. Bryc.
1888M Haplotype eQTLs in response to trivalent 1905S The Brazilian EPIGEN Initiative: admixture,
influenza vaccine. H. Xu. history and epidemiology at high resolution. F. Kehdy.
1889T Novel gene discovery through proximity 1906M Inferring patterns of demography and
clustering of de novo mutations in rare diseases. J. assortative mating in the Thousand Genomes Project
McRae. admixed populations from the Americas. E. E. Kenny.
1890S Power of paternity exclusion with DNA markers 1907S Genotype and allele frequencies of RETN
and its current use: Some corrective actions. R. -420 C/G polymorphism in three Mexican native
Chakraborty. populations. A. López Quintero.
1908M Sub-continental local ancestry inference in U.S.

Evolutionary and Population Genetics individual. B. K. Maples.
1909S Drift and selection contribute to elevated

1891S Genetic ancestry associated with obesity and
susceptibility for childhood acute lymphoblastic
diabetes risks in a Mexican-American population from
leukemia in individuals with Native American ancestry.
Houston, Texas. H. Hu.
P. Nakka.
1892M Investigating European admixture in GERA East
1910M Relationship between Glaucoma and Admixture
Asians. Y. Banda.
in Postmenopausal African American Women. R.
Nassir.
1893S A Comparative Genomic Approach to
Introgression Detection. L. Nakhleh.
1911S Inference of the demographic history of Japan
using Approximate Bayesian Computation. C. D.
Quinto.
POSTER SESSIONS 151
1912M A Fine-Scale Comparative Analysis of 1929S Using linkage disequilibrium to refine estimates
Population Structure, Divergence and Admixture in in of accelerating growth in human populations. M.
Han Chinese, Japanese and Korean Populations. S. Xu. Reppell.
1913S Analysis of autosomal and Y-chromosomal 1930M Effect of negative selection on distribution of
POSTER SESSIONS
DNA Suggests West Asian Population Derivation from runs of homozygosity in outbred and consanguineous
Northern Middle Eastern Populations in the post- human cohorts. K. Popadin.
Glacial Period. P. Zalloua.
1931S Non-visual Opsin Evolution and Implications for
1914M A method to use control data and exploit the Human Health. A. B. Popejoy.
structure of genetic ancestry space to enhance case-
control studies. C. Bodea. 1932M Evolution and expression of duplicated genes in
the human genome. X. Lan.
1915S Population Genomics of the South American
Andean Region. J. R. Homburger. 1933S Can phylogenomic analysis of Hemopexin
repeat-containing proteins provide insights into the
1916M Fast individual ancestry inference from DNA evolution of adaptive immunity? L. Likins.
sequence data leveraging allele frequencies from
multiple populations. O. Libiger. 1934M POTE: an example of gene family evolution. F.
Anaclerio.
1917S Molecular and cytogenetic analysis of
inversions in human and Great Apes. M. Miroballo. 1935S Evolutionary Triangulation: Informing Genetic
Studies with Evolutionary Evidence. M. Huang.
1918M Identification of pleiotropic association
signals in multiple autoimmune diseases at 2q24. J. E. 1936M MtDNA and health among Taiwanese. J. Loo.
Molineros.
1937S RUNX3 Gene polymorphisms and haplotypes in
1919S Genomic Affinities Among Different Population mexican patients with colorectal cancer. A. S. Suárez
Groups of Jammu Region of J&K State, India. R. K. Villanueva.
Panjaliya.
1938M Deep sequencing of the human MHC region
1920M Acetylation of RNA Polymerase II Evolved in the reveals widespread and ancient structural variation.
Early History of Animals. C. Simonti. A. Q. Fu.
1921S Structural Comparison and Natural Selection of 1939S Estimating the generation time in human
Filaggrin Gene within Primates. V. Romero. evolution. P. Moorjani.
1922M Population genomics analysis in whole genome 1940M Role of Methylenetetrahydrofolate Reductase
sequencing of 152 rhesus macaques. F. Yu. (MTHFR) in Risk of Opioid Abuse; Association between
MTHFR and SOAPP®-R and ORT test. T. G. Onojighofia.
1923S RNA-seq analysis of endogenous retroviral
elements in bovine conceptuses during the period of 1941S Y Chromosome STR Mutation Rates: the Factor
placentation. S. Nakagawa. of 3 Connundrum. D. E. Platt.
1924M How population growth affects linkage 1942M Extending the Ewens Sampling Formula to
disequilibrium. A. Rogers. structured populations: Recursive computation of
exact probabilities of allele frequency spectra. M.
1925S The Structure of Linkage Disequilibrium in the Uyenoyama.
Recently Admixed Populations. H. Zhang.
1943S Whole genome sequencing of twenty Mauritian
1926M Statistical genetic considerations for expansion cynomolgus macaques (Macaca fascicularis). M.
of panel of DNA markers for forensic applications: Raveendran.
Lessons learned from the panel of 29 autosomal STR
loci. M. R. Nolan. 1944M Forensic Phenotyping in Brazilian population:
SLC24A5 and ASIP as phenotypic predictors genes of
1927S Multidrug-resistant pulmonary tuberculosis in skin, eye and hair color. C. Fridman.
Mexican population. Evidence of association of HLA
class II and TNF-308 G/A polymorphism. B. Silva. 1945S Interpretation of the high allele frequency of
GJB2 c.109 G>A variant in Chinese population: a
1928M A Renewal Theory Approach to IBD Sharing. S. pathogenic mutation or coincidental polymorphism?
Carmi. Y. Lu.
152 POSTER SESSIONS
1946M Target sequencing analysis of Parkinson’s 1963S Association study confirms that two OCA2
disease genes in a healthy Amerindian Population from polymorphisms are involved in normal skin
Puno-Peru. M. Cornejo-Olivas. pigmentation variation in East Asian populations. E.
Parra.
1947S Prevalence and sources of genetic variation in
human mitochondria. E. Glassberg. 1964M Positive Selection on Loci Associated with Drug
and Alcohol Dependence. B. Sadler.
1948M Maternal Age Effect and Severe Germline
Bottleneck in the Inheritance of Human Mitochondrial 1965S Neanderthal Origin of the Haplotypes Carrying
DNA. M. Su. the Functional Variant Val92Met in the MC1R in Modern
Humans. Q. Ding.
1949S Cilioretinal artery: is it a variant angiogenesis
under the effect of PAI-1 5G allele? I. Akalin. 1966M Altitude adaptation in Tibet caused by
introgression of Denisovan-like DNA. E. Huerta-
1950M Tumor Necrosis Factor-alpha Gene Sanchez.
Polymorphism in Turkish Patients with Psoriasis. H.
Akar. 1967S Whole genome sequencing to uncover
adaptation to high altitude in the Andes. M. Muzzio.
1951S Whole genome sequencing of a gibbon parent-
offspring quartet to examine mutation rate variation in 1968M IFNL3/IFNL4 region shows evidence for recent
apes. D. M. Bobo. positive selection specific to Asian populations. G. L.
Wojcik.
1952M Significant association of Pro129Thr
polymorphism in the fatty acid amide hydrolase (FAAH) 1969S A genome-wide natural selection scan using
gene with body mass index in Oceanic populations. I. 1000 high-coverage, Alzheimer’s-specific whole-
Naka. genome sequences. M. Ebbert.
1953S Brazilian population data on 26 non-CODIS 1970M Identification of functional signals of recent
STR loci used for paternity and kinship analysis. V. S. selection in the Sea Island Gullah African Americans.
Sotomaior. C. D. Langefeld.
1954M An estimate of the average number of recessive 1971S Dissecting Genetic Architectures of Human Zinc
lethal mutations carried by humans. Z. Gao. Transporter Genes and Searching Footprints of Natural
Selection in Global Populations. J. Li.
1955S Testing the infinite sites assumption using the
1000 genomes dataset. S. Huang. 1972M Genomic Patterns of Natural Selection on
Toll-Like Receptors and N-Glycosylation Genes in
1956M Inference of mutation rates using hidden Humans and Toll Genes in Drosophila: A Comparative
relatedness. P. F. Palamara. Study on the Evolution of Innate Immunity Genes from
Invertebrates to Vertebrates. S. Mukherjee.
1957S Hundreds of shared ‘deletions’ in ancient
hominins are polymorphic in modern human 1973S Evolutionary history of pigmentation candidate
populations. D. Radke. gene diversity in a Melanesian population. H. Norton.
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1982M Positive selection in smallpox associated genes Adaptation in Peninsular Malaysia. L. Deng.
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2006M Genetic Structure of North-Indian Punjabi
1988M Genome wide survey of positive selection Population Based on Autosomal Microsatellite Loci.
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1990M Inference of Neandertal gene expression from 2008M Decoding ancient Bulgarian DNA with
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1991S Khoisan hunter-gatherers have been the 2009S Exploring Detailed Demographic Histories of
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1992M Insights from low-coverage whole Y 2010M Exome sequencing of 3,000 individuals reveals
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1993S Exploring the Y-Chromosome Variation of
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1994M Population specific patterns of novel haplotype D. Lu.
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1996M The Kalash isolate from Pakistan. Q. Ayub. Sex-Biased Demography and its Application to Human
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1997S Identifiability and efficient inference of
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2016M Coalescent times of 63 males estimated using 2034M Conflations of short IBD blocks can bias
the complete Y-chromosomes. E. Wong. inferred length of IBD. C. W. K. Chiang.
2017S Detecting and dissecting the fine-scale genetic

population structure of Spain. C. Bycroft. Cardiovascular Genetics
2018M Using constraints on FST to interpret genetic
2035S A systematic analysis of genetic forms of
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dilated cardiomyopathy reveals numerous ubiquitously
expressed and muscle-specific genes. F. W. Asselbergs.
2019S Population structure of Amerindian 19
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2036M The -844 GA PAI-1 polymorphism is associated
with Acute Coronary Syndrome in Mexican population.
2020M Distribution of CYP2C9*2 and CYP2C9*3 I. J. García-González.
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2037S MAT2A Mutations Cause Familial Thoracic
Aortic Aneurysms and Aortic Dissections. D. Guo.
2021S Full ancient mitochondrial genomes using the
Ion Proton platform: Analyzing the genetic diversity of
2038M Associations of Endothelial System Genes with
the Neo-Eskimo. J. Tackney.
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the GenSalt Study. F. Liu.
2022M Large scale whole-genome sequencing of the
Icelandic population isolate. D. F. Gudbjartsson.
2039S Novel NKX2.5 mutation associated with
congenital heart disease in South Indian patients. S.
2023S Identifying Clusters of Rare Skeletal Genetic Mattapally.
Disoders in Brazil - preliminary data. D. Cavalcanti.
2040M A replication study for fifteen coronary artery
2024M The CARTaGENE Genomics Project: How disease susceptible loci in a Japanese population. K.
successive bottlenecks have shaped the present Ozaki.
French Canadian founder population. H. Gauvin.
2041S Relations between PAI-1 plasma levels and
2025S Dominant mutation in GJB2 causes hearing loss adipose tissue expression of PAI-1 and hsa-miR-421
in northeast Mexican family. F. Loeza-Becerra. microRNA. DA. Tregouet.
2026M Clinical Implications and Frequency of Variants 2042M Functional fine mapping of the genes involved
in Nonsyndromic Hearing Impairment Genes in a in plasma lipid metabolism in the LD-block of NCAN/
Population-Based Sample of African-Americans and CILP2/PBX4 region. S. Boonvisut.
European-Americans. H. Dai.
2043S Mutations in genes NKX2.5, GATA4 and TBX5,
2027S Human population growth and purifying associated to congenital heart disease with septal
selection have increased the burden of autosomal and defect in pediatric patients from the Guadalajara Civil
X-linked private mutations. F. Gao. Hospital Fray Antonio Alcalde. R. Diaz Martinez.
2028M Whole Genome Sequence of Japanese from 2044M Standard Schnauzer dogs with dilated
Tohoku Medical Megabank Prospective Cohort Study. cardiomyopathy have a 22 bp deletion and frame shift
M. Nagasaki. in RBM20. D. Gilliam.
2029S Analyzing the impact of consanguinity and 2045S Disruption of the SEMA3D gene in a patient with
admixture on the Middle East Variome. E. M. Scott. congenital heart defects. C. Le Caignec.
2030M Rare variant stratification in a German/Austrian 2046M Long QT Syndrome - Family Studies in Ion
sample set. E. Tilch. Channel Encoding Gene. P. Nallari.
2031S Population structure in the UK: Rare variant 2047S Assessment of the TNF- rs1799964 (-1031T>C)
analysis using whole genome sequencing in 3,621 polymorphism and soluble protein concentration in
samples in the UK10K cohorts project. K. Walter. Acute Coronary Syndrome: association with circulating
levels. E. Sandoval-Pinto.
2032M Rare variation and the genomic context of
allele-specific expression. J. R. Davis. 2048M Whole exome sequencing identifies a
NEXN mutation in a family with left ventricular
2033S Targeted transcriptomics to compare the noncompaction. J. M. Taylor.
susceptibility of human naive and pre-immune
volunteers to an infection challenge with viable 2049S Association of rs4340 ACE polymorphism with
Plasmodium vivax sporozoites. ML. Rojas-Pena. acute coronary syndrome in Mexican population. A.
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2050M HLA-DRB1*01 allele associates with Acute 2065S Novel variants in VINCULIN and
Coronary Syndrome (ACS) in Finnish population. E. TROPOMYOSIN1 combinatorially predispose patients
Vlachopoulou. to dilated cardiomyopathy. D. C. Deacon.
2051S Exploring the role of common and rare platelet
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2066M A novel mutation in the RYR2 gene (c.527
traits-associated variants in cardiovascular disease G>T, p.R176L) identified in a 4 generation family
risk. N. Chami. presents with a catecholaminergic polymorphic
ventricular tachycardia (CPVT) phenotype with variable
2052M GWAS-identified loci for coronary heart disease penetrance. S. Lauson.
are associated with intima-media thickness and plaque
presence at the carotid artery bulb. M. den Hoed. 2067S Harnessing genomic data to identify drug
targets for reduction of LDL cholesterol and CAD risk
2053S Transethnic replication of the gene-gene that do not impact upon glycaemic status. V. Tragante
interaction of the prostaglandin E2 system in do O.
determining blood pressure reactivity. X. Kong.
2068M From Identification of Differing TIE2 Mutations
2054M Role of common sarcomeric gene with Distinct Cellular Characteristics in Four Types
polymorphisms in genetic susceptibility to left of Venous Anomalies towards a Murine Model and a
ventricular dysfunction. B. Mittal. Therapeutic Pilot Study. M. Vikkula.
2055S Identification of TMEM241 as the underlying 2069S A novel pathway involved in the susceptibility of
gene in the chromosome 18q11.2 triglyceride region in non-alcoholic fatty liver diseases. S. Makishima.
Mexicans. A. Rodriguez.
2070M Association of the eNOS -786T > C gene
2056M Contribution of genetic variation of ATP-binding polymorphism and coronary artery disease in Iranian
cassette transporter A1 (ABCA1) to the regulation of population. S. Mehrtashfar.
plasma lipid/lipoprotein levels in US Non-Hispanic
Whites. F. Y. Demirci. 2071S Novel association between genetic variation in
the platelet endothelial aggregation receptor 1 (PEAR1)
2057S A high yield of variants with a putative gene and platelet count is not modified by anti-platelet
role as modifiers in patients with hypertrophic treatment with clopidogrel and aspirin. A. S. Fisch.
cardiomyopathy. S. Bardi.
2072M The Association of the Vanin-1 N131S Variant
2058M Genetic dissection of a novel X-linked with Blood Pressure is Mediated by Endoplasmic-
congenital heart syndrome. C. Preuss. Reticulum-Associated Degradation and Loss of
Function. Y. J. Wang.
2059S Large-scale metabolomic profiling identifies
novel biomarkers for incident coronary heart disease. 2073S Cardiac enhancers in sub-threshold genetic loci
A. Ganna. reveal candidate repolarization genes. X. Wang.
2060M Genetic and Metabolic Causes of Neonatal 2074M Mini Brain Related Kinase / DYRK1B: Novel
Cardiomyopathy. C. Prada. Gene for Metabolic Syndrome. M. Fathzadeh.
2061S Targeted Oligonucleotide-Selective Sequencing 2075S Revealing the genetic and gene expression
for Genetic Diagnostics of Pulmonary Arterial variation in a case-control study for Acute Myocardial
Hypertension. E. H. Seppälä. Infarction in a Pakistani population. N. I. Panousis.
2062M Use of a Gene Expression Score in a Primary 2076M Association of Cytochrome P450 2C9 (CYP2C9)
Care Setting to Evaluate African American Patients and VKORC1 polymorphisms and warfarin dosage in
Presenting with Symptoms Suggestive of Obstructive Iranian patients refer to Shahid Rajaie Heart Center. R.
Coronary Artery Disease. L. Wilson. Kameli.
2063S Extended genetic diagnosis of Familial 2077S Regulatory Polymorphisms in DBH Affect
Hypercholesterolemia using next-generation Peripheral Gene Expression and Sympathetic
sequencing. M. M. Motazacker. Phenotypes. E. S. Barrie.
2064M Evidence for the novel variant, c.1937 C>T 2078M Obstructive heart defects associated with
(p.Ser646Phe ) in the membrane binding domain of candidate genes, maternal obesity, and folic acid
the ANK2 gene contributing to Long QT syndrome in a supplementation. X. Tang.
First Nations community of Northern British Columbia.
L. T. Arbour. 2079S Notch1 haploinsufficiency increases risk of
congenital heart defects in the setting of maternal
diabetes by an epigenetic mechanism. M. Basu.
156 POSTER SESSIONS
2080M eNOS Gene polymorphism in newborn patients 2097S Identification of three novel genetic variations
with persistent pulmonary hypertension. ML. Lemus- associated with electrocardiographic traits (QRS
Varela. duration and PR interval) in East Asians. J. E. Lim.
2081S A transcriptomic study reveals KLF15 as a 2098M Identify genetic risk factors for coronary
circadian metabolic switch in the heart. L. Zhang. collaterals in a genetically diverse population. Z. Liu.
2082M A Large Scale Genome Wide Association Study 2099S Meta-analysis of Variants on the Exome Chip
of Varicose Veins in the 23andMe Cohort. R. K. Bell. in 120,700 Individuals of European Ancestry Identifies
Multiple Rare and Common Loci for Blood Pressure.
2083S An extreme phenotype approach to identify C. Liu.
genes in Caribbean Hispanics for carotid plaque, a
preclinical marker of atherosclerosis. S. H. Blanton. 2100M GWAS of Serum (25(OH) Vitamin D levels in a
Punjabi Sikh Diabetic Cohort. B. R. Sapkota.
2084M Genetic variants in LEKR1 and GALNT10
modulate sex-difference in carotid intima-media 2101S A smoking stratified meta-analysis of peripheral
thickness: A genome-wide interaction study. C. Dong. arterial disease identifies associations and interactions
with SNPs near genes implicated in nicotine
2085S The Kaiser Permanente/UCSF Genetic dependence. N. R. van Zuydam.
Epidemiology Research study on Adult Health and
Aging: A blood pressure genome-scan in ~100,000 2102M A Comprehensive 1000 Genomes-based GWAS
Subjects. T. Hoffmann. of Coronary Artery Disease. H.-H. Won.
2086M Single variant and burden analysis of low 2103S Exome-wide association study of blood lipid
frequency variants for Fibrinogen, FVII, FVIII, and vWF. levels and positive selection of lipids associated genes
J. E. Huffman. in Asian population. H. Zhang.
2087S Carotid intima-media thickness: a genome-wide 2104M Genome-wide association analysis for chronic
association analysis among African Americans. S. M. venous disease. D. Ellinghaus.
Tajuddin.
2105S Novel genetic determinants associated with
2088M Genetic determinants underlying hypertension blood lipid concentration changes and coronary artery
in multi-ethnic populations. N. Vasudeva. disease in European adults. T. V. Varga.
2089S Contribution of Global Copy Number Variants 2106M Identification of a predictive/prognostic genetic
to Down Syndrome-associated Atrioventricular Septal signature in Chagas Cardiomyopathy: A systems
Defects. D. Ramachandran. biology approach. C. Chevillard.
2090M Identification of Loci associated with Bicuspid 2107S Exome sequencing identifies interacting
Aortic Valve (BAV). S. C. Body. cytoskeletal genes with mutations in congenital heart
disease. A. Manickaraj.
2091S Relationship Between Plasma Betaine Levels
and Cardiovascular Disease: Results of a Genome- 2108M Transcriptome-wide single-cell gene expression
Wide Association Study. J. Hartiala. and genetic variation analyses of metabolic stress
response in macrophages reveal functionally relevant
2092M Genome-wide association study identifies novel genetic cues in atherosclerosis. S. Sauer.
susceptibility loci for venous thromboembolism in
African Americans. W. Hernandez. 2109S Identification of pathway/genes associated with
Bicuspid Aortic Valve in three Caucasian Cohorts. M.
2093S Nervous system-related loci determining sex- Heydarpour.
difference in blood pressure reactivity to cold stress in
both Chinese and Whites. Q. Zhao. 2110M The multi-tissue cis-eQTL landscape in
coronary artery bypass grafting patients: the
2094M Finding low-frequency causal genetic variants STockholm Atherogenesis and Gene Expression
for lipids by genotyping subjects with extreme HDL-c (STAGE) study. K. Nguyen.
levels. W. Zhou.
2111S Metabolomic profiling identifies markers of
2095S Identification of blood pressure related genes by cardiac atrial septal defects. H. Wang.
population-based transcriptome analyses. C. Müller.
2112M A Gene Network approach to Rare Variant
2096M Genetics of Plasma Lactate. P. Balakrishnan. analysis. T. G. Richardson.
POSTER SESSIONS 157
2113S WES reporting of mutations from cardiovascular 2128M Common variants of LDLR and PCSK9 genes
“actionable” genes in clinical practice: a key role for associated with the risk and severity of Coronary
UMD knowledgebases. A. Pinard. Artery Disease in Iranian patients. S.Hamid. Jamaldini.
2114M Sequencing of 2,000 Norwegians to evaluate 2129S Targeted oligonucleotide-selective sequencing
POSTER SESSIONS
genetic architecture of lipid and MI-associated of 101 genes from 147 patients with dilated
variants. C. Willer. cardiomyopathy in Finland. J. W. Koskenvuo.
2115S Whole exome sequencing highlights 2130M Association of rare variants in LDLR, HMGCR,
the importance of the CRELD1 interactome in NAT2, ABCA1, and APOA1 with plasma lipid levels;
atrioventricular septal defect in Down syndrome. C. M. initial results from the eMERGE PGx project. I. J. Kullo.
Ackerman.
2131S TGFB3 pathogenic mutations cause MFS/
2116M Gene-centric association tests applied LDS phenotypes and aortic aneurysms in 3 Japanese
to cardiovascular disease using whole genome families. H. Morisaki.
sequencing. MAA. Almeida.
2132M Exome sequences and rare variant association
2117S Somatic Activating GNAQ Mutations are for plasma lipids in over 18,900 individuals. G. M.
Frequent in Capillary Malformations (Port-Wine Stains). Peloso.
M. Amyere.
2133S Rare mutations in cardiomyopathy genes are
2118M Molecular-genetic factors in normal and associated with takotsubo cardiomyopathy. A. L.
pathological angiogenesis. I. I. Dimova. Siniard.
2119S Genetic Variation of Scavenger Receptor 2134M Screening of the PRKG1 gene in a British
Class B Type I (SCARB1) and Plasma Lipid Traits: An cohort of Thoracic Aortic Aneurysm and Dissection
Association Study in a Nigerian Population. V. Niemsiri. (TAAD) patients. Y. B. A. Wan.
2120M Identification of novel genetic mutations 2135S Exome sequencing identifies a homozygous
causing familial hypercholesterolaemia among Saudi splice site variation in ZBTB17 in arrhythmogenic
Arabian population. F. A. Al-Allaf. ventricular dysplasia. J. Wang.
2121S Whole Exome Sequencing of 350 LVOTO 2136M Identification of Novel Genes and Variants
Cases Reveal Novel Candidate Genes for Congenital Associated with Hypertrophic Cardiomyopathy in
Cardiovascular Malformations. J. Belmont. Panel Negative Patients Through Targeted Sequencing
of 450 Genes and Rare Variant Association Testing. M.
2122M Low-frequency coding variation in DNAH11 is T. Wheeler.
associated with Sudden Cardiac Arrest among African
Americans. J. A. Brody. 2137S Whole exome sequencing of a family trio
to identify potential genetic modifiers of LMNA
2123S Whole genome sequencing and analysis of three arrhythmia and cardiomyopathy. M. Zaragoza.
hypoplastic left heart syndrome trios using DNA from
buccal swabs collected through the National Birth 2138M Timothy syndrome type 2 associated
Defects Prevention Study. K. J. Buckingham. CACNA1C mutation G402S in a teenager with normal
development presenting with ventricular fibrillation. TP.
2124M Rare variant association analysis for plasma Alastalo.
lipids in coronary artery disease susceptibility loci. H.
K. Chheda. 2139S Rare potentially pathogenic variants in the
congenital arrhythmia syndrome disease genes
2125S Identification of potentially pathogenic SCN5A and KCNH2 are detected frequently but rarely
mutations in 9 candidate genes for bicuspid aortic associated with arrhythmia phenotypes in electronic
valve using next-generation sequencing. N. Dargis. health records. S. L. Van Driest.
2126M Whole Exome Sequencing Reveals Rare, 2140M Identification of histone modifier genes in
Truncating Variants in Nuclear Envelope Genes are 22q11DS patients with conotruncal heart defects by
Present in a Large Subset of Cardio-Genetic Patients. whole-exome sequencing. T. Guo.
G. T. Haskell.
2141S Use of high-throughput genetic sequencing
2127S Initial analysis of exome sequence from to screen for copy number variation in hypertrophic
410 individuals with familial or simplex dilated cardiomyopathy. C. Dalageorgou.
cardiomyopathy. D. J. Hedges.
2142M Gene expression profile of bicuspid and
tricuspid aortic valves with and without calcification by
RNA sequencing. S. Guauque-Olarte.
158 POSTER SESSIONS
2143S Family-control analysis based on Hamming 2159S Patterns of discordant phenotypes in familial
distance successfully prioritizes exome sequence congenital heart disease. L. A. Larsen.
variants in familial cardiomyopathy. A. Imai.
2160M Titin As a Gene for Conduction Defects With
2144M Rare and common variation in SCN10A is and Without Cardiomyopathy. E. Smith.
associated with Brugada Syndrome. E. Petropoulou.
2161S Cystatin C and cardiovascular disease: a
2145S Whole genome sequencing association study of Mendelian randomization study. S. W. van der Laan.
ECG conduction traits. B. P. Prins.
2162M Association of oxidative DNA damage with folic
2146M Replication of a single nucleotide acid metabolizing genes in children with congenital
polymorphism variant in CETP gene associated with septal defects. S. Syed.
HDL level in the ClinSeq® Study. H. Sung.
2163S Causal role of alcohol consumption in blood
2147S Assessment of the implication of rare coding levels of lipids and hemostatic factors, and risks of
variants in familial and sporadic Fibromuscular coronary heart disease an ischemic stroke. K. Vu.
Dysplasia. N. Bouatia-Naji.
2164M Mendelian randomisation study of alcohol and
2148M High Throughput Sequencing and Bioinformatic cardio-metabolic risk factors. I. Y. Millwood.
Analysis in Familial Congenital Heart Disease. D.
Corsmeier. 2165S Heritability and linkage study on heart rate
variability in an isolated Arab population. L. Munoz.
2149S Exome Sequencing Reveals Candidate Genes
for Spontaneous Coronary Artery Dissection. J. L. 2166M The Familiality of Extreme Lipid Values. S.
Theis. Knight.
2150M Feasibility of a Targeted Ion Torrent Next 2167S Characteristics of Aortic Disease Associated
Generation Sequencing platform for Identification with ACTA2 mutations. E. S. Regalado.
of Mutations Associated with Inherited Cardiac
Arrhythmia Syndromes. E. Burashnikov. 2168M Are short telomeres are cause or consequence
of hypertension in spontaneously hypertensive mice?
2151S Whole-Exome Sequencing in Multiplex Family C. L. Chiu.
Identifies Novel Risk Variants for Thrombotic Storm. J.
M. Vance.
Therapy for Genetic Disorders
2152M Identification of rare exonic variants
predisposing to early onset coronary heart disease in
families from Northern Finland. E. Nevala. 2169S Infusions of dexamethasone loaded
erythrocytes in ataxia teleangiectasia patients. L.
Chessa.
2153S Retrotransposons in Nonsyndromic Conotruncal
Heart Defects. D. Webber.
2170M Inta-nasal DDAVP administration for the
prevention of massive subcutaneous hematoma in
2154M Cardiovascular Disease in Pediatric Patients
dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient
with Ciliopathies. S. Bowdin.
Ehlers-Danlos Syndrome (DDEDS). T. Kosho.
2155S Genotype and Phenotype Characteristics of
2171S Catatonia in Down syndrome; the overlooked,
Filipino Families with Familial Hypercholesterolemia
treatable cause of regression. J. H. Miles.
and Novel LDL-R Gene Mutation. E. C. Cutiongco de la
Paz.
2172M To study anticancerous and antiproliferative
effect of Zerumbone and Oridonin on HeLa cell lines.
2156M Implantable cardioverter defibrillator (ICD)
N. Gill.
therapy in two founder arrhythmogenic right
ventricular cardiomyopathy (ARVC) populations with
mutations in TMEM43 (p.S358L) and PKP-2 (p.Q378X). 2173S Subjects treated with Migalastat continue
When genotype matters. K. Hodgkinson. to demonstrate stable renal function in a Phase 3
extension study of Fabry Disease. D. G. Bichet.
2157S Elevated risk of abnormal arterial remodeling in
relatives of individuals with fibromuscular dysplasia. 2174M Development of a cell-based reporter assay
A. Katz. suited for small-molecule drug discovery in FGF23-
inducible HEK293 cells stably expressing Klotho. S.
Diener.
2158M First 2 years of experience of an integrated
multidisciplinary clinic for adults with aortopathies in a
Canadian context. A. M. Laberge. 2175S Phenylbutyrate increases pyruvate
dehydrogenase complex activity in cells harboring a
variety of defects. R. Ferriero.
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2176M Rapamycin and Chloroquine: the in vitro and 2191S Genotoxicity after adeno-associated virus (AAV)
in vivo effects of autophagy-modifying drugs show gene therapy is dependent upon dose, treatment age
unexpected results in valosin containing protein and enhancer-promoter selection. R. J. Chandler.
multisystem proteinopathy. A. Nalbandian.
2192M Mutational and functional analysis of Glucose
POSTER SESSIONS
2177S Unfolded protein response induced by mutant transporter 1 deficiency syndrome. S. Nakamura.
alpha1-antitrypsin (AAT) activates JNK-MAPK
pathway that modulates AAT levels and toxicity in AAT 2193S Online DuchenneConnect self-report data
deficiency. N. Pastore. indicates Exon 44 skippable DMD patients have
prolonged wheelchair-free survival. J. W. Ulm.
2178M Case report: Efficacy of L-Citrulline
supplementation in a patient with Mitochondrial 2194M TALEN-mediated Genome Modification Leads
Encephalopathy, Lactic Acidosis and Stroke-like to Ablation of Intranuclear Foci in Neural Stem Cells
episodes (MELAS) with behavioral disturbances and Derived from Human Myotonic Dystrophy Type 1 iPS
failure to thrive. E. Alkhunaizi. Cells. G. Xia.
2179S Combination Therapy To Enhance Antisense 2195S Choroid plexus-directed gene therapy using an
Mediated Exon Skipping for Duchenne Muscular -N-acetyl-glucosaminidase-IGF2 fusion protein in MPS
Dystrophy. D. W. Wang. IIIB mice. S. H. Kan.
2180M Inhibition of AKT signaling in Proteus and PROS 2196M Glycogen storage disease type Ia mice
cells: A simple model for cancer therapeutics targeting receiving gene therapy are protected against age-
the AKT/PI3K pathway. L. G. Biesecker. induced obesity and insulin resistance. GY. Kim.
2181S Cycloheximide enhances skipping of mutated 2197S Developing Treatment for Neurofibromatosis. A.
DMD exons synergistically with TG003. A. Nishida. Cosco.
2182M Treatment of LMNA Laminopathies with the 2198M Cell Reprogramming Technologies for the
Rapamycin Analog RAD001. A. J. DuBose. Treatment of Genetic Disorders of Myelin. A. Lager.
2183S Novel Cystine Derivatives as Potential Inhibitors 2199S Rescue of lethal hypophosphatasia model mice
of Cystine Stone Formation in Cystinuria. A. Sahota. by adeno-associated virus mediated muscle specific
expression of bone targeted alkaline phosphatase. A.
2184M Towards treatment of Cantu syndrome. G. van Nakamura.
Haaften.
2200M Functional genomic analysis of the interplay
2185S Early intravenous enzyme replacement between the retrograde transport machinery and HIV-1
therapy improves white matter myelination in canine replication. D. Dykxhoorn.
mucopolysaccharidosis I. P. Dickson.
2201S Toward Treatments for Genetically-Based
2186M The impact of enzyme replacement therapy on Protein Misfolding Diseases Using Antisense
immunity in Gaucher disease. R. Limgala. Technology. S. Guo.
2187S An open-label, multicenter, ascending dose 2202M Auditory verbal therapy in pediatric patients
study of the tolerability and safety of recombinant with congenital diseases. M. Conde-Pacheco.
human acid sphingomyelinase (rhASM) in patients with
ASM deficiency (ASMD). M. P. Wasserstein. 2203S Combination therapy with artificial dermis,
growth factors, and cell culture techniques for massive
2188M A proprietary human acid -glucosidase with hematoma-induced skin necrosis in a patient with
high mannose 6-phosphate and its application in dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient
chaperone-advanced replacement therapy (CHART ™) Ehlers-Danlos Syndrome (DDEDS). F. Nagai.
as a potential next-generation treatment for Pompe
disease. S. Xu. 2204M Feasibility of Exon-Skipping Therapy for
Juvenile Neuronal Ceroid Lipofuscinosis. M. Velinov.
2189S A Phase II Multicenter, Open-label Trial
to Evaluate the Safety and Efficacy of Fabagal® 2205S Improving the communication skills of Down
(Agalsidase beta) in Patients with Fabry Disease. H. Syndrome patients through speech therapy. A. Umrigar.
Yoo.
2206M The outcome of N-carbamylglutamate
2190M Choroid plexus-directed viral gene therapy for (Carbaglu® ) therapy in a Korean patient with
alpha-mannosidosis, a prototypical lysosomal storage N-acetylglutamate synthase deficiency. K. Woo.
disease. E. Choi.
160 POSTER SESSIONS
2207S Modeling Autosomal Dominant Optic Atrophy in 2221T Inherited GPI anchor deficiency: biochemical,
Induced Pluripotent Stem Cells (iPSCs) and Identifying molecular, and clinical presentation of a patient with
the Potential Therapeutic Targets. J. Chen. PIGW mutations. T. Chiyonobu.
2208M Complete Huntingtin Haplotypes for Allele- 2222M Structural modeling and bioinformatics analysis
Specific Silencing. C. Kay. of Acid Alpha-Glucosidase in Colombian patients
with p.[G576S; E689K] polymorphism associated with
2209S iPS-cell derived basal keratinocytes p.W746C mutation. J. Gonzalez Santos.
and melanocytes to study severe monogenic
genodermatoses in patient-specific 3D tissue systems. 2223T Familial hypermangenesemia among Egyptian
K. M. Eckl. families: further delineation of the phenotype and
management. M. S. Zaki.
2210M A Fine Balance of Dietary Lipids Improves
a Murine Model of VCP-associated Disease. K. J. 2224M Abnormal phospholipid metabolism due to
Llewellyn. variants in PCYT1A causes spondylometaphyseal
dysplasia with cone-rod dystrophy. J. Jurgens.
2211S Development of autologous myogenic stem
cell therapy for carriers of a heteroplasmic mtDNA 2225T Mutation spectrum of six genes in Chinese
mutation: a proof of principle study in m.3243A>G phenylketonuria patients obtained through next-
mutation carriers. F. van Tienen. generation sequencing. Y. Gu.
2212M Online Self-Report Data for Duchenne Muscular 2226M Functional Characterization of RYR1 Sequence
Dystrophy: observations of current natural history and Variants Associated with Malignant Hyperthermia
explorations of therapeutic responses. A. Eskin. Susceptibility Identified through Exome Sequencing. S.
G. Gonsalves.
2213S Prevention and reversal of transcriptional
changes in an induced model of spinal muscular 2227T Screening for Lysosomal Storage Disorders
atrophy by administration of an antisense using an integrated enzymatic and molecular
oligonucleotide promoting inclusion of SMN2 exon 7. approach. O. Bodamer.
J. F. Staropoli.
2228M Lysosomal acid lipase activity in dried blood
spots from patients initially suspected of Gaucher
Metabolic Disorders disease. V. G. Pereira.
2229T Novel strategy for the diagnosis of late onset

2214M A hemizygous GYG2 mutation in Japanese
Pompe disease using next generation sequencing
siblings showing Leigh syndrome without marked
technologies. S. Levesque.
elevation of lactate and pyruvate. E. Imagawa.
2230M Molecular testing of 163 patients with Morquio

2215T Role of ACBD3 protein in the mitochondrial
A syndrome (mucopolysaccharidosis IVA; MPS IVA): 39
energy metabolism. M. Tesarova.
novel GALNS gene mutations. M. Hegde.
2216M Encephalopathy and urea cycle disorder after
2231T Menkes disease: the importance of precise
gastric bypass in a heterozygous G209S short chain
diagnosis with molecular analysis in neonatal period.
acyl-CoA dehydrogenase gene carrier. H. Wang.
C. Kim.
2217T Persistent elevations in C3 and C5OH,
2232M Mitochondrial Heteroplasmy and Clinical
heralding signs for an underlying mitochondiral
Variability in a MELAS Family. K. McClelland.
defect: Neurogenic weakness with ataxia and retinitis
pigmentosa (NARP). N. Hauser.
2233T Morquio A syndrome (mucopolysaccharidosis
IVA; MPS IVA): A review of 277 gene mutations curated
2218M Evidence of secondary mitochondrial
in a new GALNS locus-specific database. N. Miller.
dysfunction in patients with organic acidemias. G. M.
Enns.
2234M Expanding the toolbox for the diagnosis of
mitochondrial disorders. L. Kremer.
2219T A newborn with persistent mild elevations of
succinylacetone in bloodspot, plasma and urine, with
an identified homozygous variant in the GSTZ1 gene. 2235T Novel mutation in BCKDHA gene in Iranian
W. Al-Hertani. population. m. abiri.
2220M Novel mutations in human lipase A gene. J. 2236M Two children with Phenylketonuria with normal
Huang. tetrahydrobiopterin biochemical testing and normal
Phenylalanine Hydroxylase gene testing. P. M. James.
POSTER SESSIONS 161
2237T Molecular characterization of homocysteine 2253T Insightful investigation of mtDNA integrity
metabolism in North Indian cohort with in affected tissues of patients with mitochondrial
Hyperhomocysteinemia. A. Lomash. disorders. J. Wang.
2238M Identification of a Mutation in a Novel Gene 2254M X-chromosome inactivation in females
POSTER SESSIONS
Causing a Chédiak-Higashi Syndrome-Like Phenotype. heterozygotes for Fabry disease. L. ECHEVARRIA.
J. C. Roney.
2255T Multiple gene variants cause a phenocopy for
2239T Molecular Characterisation of known and novel Lysinuric Protein Intolerance: A case report. S. Lipinski.
mutations in Congenital Adrenal Hyperplasia patients
(CYP21A2 gene ) : Genetic and diagnostic implications. 2256M Clinical and molecular characterization of
R. Khajuria. Korean patients with glycogen storage type 1a. J. Lee.
2240M Molecular Analysis of two Indian Mucolipidosis- 2257T Two new unrelated cases of Pyrroline-5-
II (ML-II) patients and Identification of One Novel carboxylate synthase -new founder effect? Y. Trakadis.
Mutation in GNPTAB gene. M. Mistri.
2258M Phosphoglycerate kinase-1 (PGK-1) deficiency
2241T Dup 24bp in chit1 in six mexican amerindian presenting as neonatal onset hemolytic anemia,
populations. T. D. Da Silva Jose. rhabdomyolysis, and mild developmental delay. Y.
Watanabe.
2242M Molecular and Functional Characterization of
Mucopolysaccharidosis Type VI in Indian population. 2259T Norrbottnian variant of Gaucher disease in
U. Anusha. southern Italy: Long term follow-up. M. Grisolia.
2243T Antioxidant enzymes gene expression in Fabry 2260M GM2-gangliosidosis, AB variant: clinical,
Disease along the circadian rhythm. A. C. Barris- ophthalmological, MRI and molecular findings. D.
Oliveira. Renaud.
2244M Characterization of NPC1 expression on mRNA 2261T The role of inflammation in vascular disease in
and protein levels in a cohort of Niemann-Pick type the MPS I canine model. M. Vera.
C disease type 1 (NPC1; MIM #257220) patients. M.
Hrebicek. 2262M A Novel mutation in the
Methylenetetrahydrofolate Reductase (MTHFR) gene in
2245T Enzyme activity values and Pseudodeficiency a Turkish child: A Case Report. M. Arslan.
Findings of arylsulfatase A and -glucosidase in a
Mexican Population. A. Juárez. 2263T Hypophosphatasia: a case report. R. Ortega.
2246M Unexpected manifestations of Gaucher disease 2264M Autoimmune thrombocytopenia in a patient

during enzyme replacement therapy. YM. Kim. with Hunter Syndrome: a rare association. A. Rufus.
2247T Characterization of the Beta-Galactosidase 2265T Bone Health in Children and Adults with Isolated
Protein Isolated from Brain of Normal Sheep and from Methylmalonic Acidemia. J. L. Fraser.
a Unique Ovine Model of GM1-Gangliosidosis. D. A.
Nevin. 2266M Optic nerve atrophy in methylmalonic acidemia
(MMA): natural history, pathological findings and
2248M Galactose Supplementation Improves experience with anti-oxidant therapy. I. Manoli.
Glycosylation in PGM1-CDG. T. E. Gadomski.
2267T Ophthalmic manifestations of Cobalamin C
2249T Morquio Syndrome: new heterozygous mutation disease occur independent of metabolic control and
of the GALNS gene in two siblings from south-west prenatal treatment. B. Brooks.
Colombia. M. F. Hernandez-Amariz.
2268M Genotype-phenotype correlation in Fabry
2250M Identification of genetic mutations in Malaysian patients detected by lysosomal newborn screening. J.
patients with fructose-1,6-bisphosphatase deficiency. Navarrete.
L. H. Ngu.
2269T Biochemical, Molecular and Clinical
2251T Molecular Spectrum of HFE Gene Mutations in Heterogeneity in Very-Long-Chain Acyl-CoA
Patients Referred for HFE Molecular Analysis: A Single Dehydrogenase Deficiency. The Atlantic Canadian
Center Study. F. Ozkinay. Experience. J. Gillis.
2252M An infant with hyperhomocysteinemia, 2270M GAL-1-P levels and GALT Gene mutations in
methylmalonic aciduria, and an atypical cellular infants following abnormal newborn screening for
distribution of protein-bound cobalamin. M. Pupavac. galactosemia in South Florida. S. A. Hosseini.
162 POSTER SESSIONS
2271T Implications for newborn screening by 2287T Genotype and Phenotype of Vietnamese
sequencing. Y. Zou. patients with ornithine transcarbamylase (OTC)
deficiency. K.Ngoc. Nguyen.
2272M Newborn screening and the incidences of
inherited metabolic and endocrine disorders in the 2288M Precise targeted gene correction of
Arab Middle East. A. M. Kinrich. arginase-1 deficiency using single-stranded
oligodeoxynucleotides with TALENs or the CRISPR/
2273T Providing more education to parents about Cas9 system. YY. Sin.
newborn screening: not harmful and probably
beneficial. B. J. Wilson. 2289T Sodium phenylbutyrate decreases plasma
branched-chain amino acids in patients with urea
2274M Evaluation of Behavior, Executive Function, cycle disorders. L. Burrage.
Neurotransmitter Function and Genomic Expression in
PKU “Nonresponders” to Sapropterin. H. C. Andersson. 2290M MEDNIK syndrome: clinical and biochemical
delineation of the copper metabolism phenotype and
2275T Treatment of phenylketonuria with a new response to zinc therapy. D. Martinelli.
formula containing LNAA. D. Concolino.
2291T Spinocerebellar Ataxias with Hypogonadism:
2276M Optimizing treatment for neonatal PNPLA6 Mutations Broadens the Phenotypic Spectrum
hyperammonmia. P. A. Levy. of a New Inherited Neurometabolic Disorder. C.
Lourenco.
2277T Melatonin and Dopamine as Biomarkers to
Optimize Treatment in Phenylketonuria: Effects of 2292M DNA diagnostics of MIDD and MELAS
Tryptophan and Tyrosine Supplementation. S. Yano. syndromes in Slovakia. D. Gasperikova.
2278M Induction of immune tolerance in MPS I 2293T Screening of Adults for Cholesterol ester
patients initiating enzyme replacement therapy with storage disease (CESD). M. Beal.
Aldurazyme. G. F. Cox.
2294M Meta-analysis of antibody titers, safety, and
2279T Effects of pre-symptomatic initiation of enzyme treatment outcomes in MPS I patients receiving
replacement therapy for infantile-onset Pompe enzyme replacement therapy (ERT) with laronidase
disease. M. Kosuga. (Aldurazyme) in clinical studies. S. Fallet.
2280M Expression and purification of human 2295T Best Policy for helping LSD patients and
recombinant -N-acetylglucosamine-6-sulphatase. S. Families: Collaboration between Charity Foundation,
Le. MOH, and pharmaceutical companies. F. Hadipour.
2281T Clinical response to eliglustat in treatment- 2296M Antisense U1-snRNAs-based correction

naïve patients with Gaucher disease type 1: Post-hoc of g.9273C>T and g.9331G>A GLA deep intronic
comparison to imiglucerase in a real-world setting. R. mutations which cause Fabry disease. L. Ferri.
Mankoski.
2297T Nutrient Intake and Growth Patterns among
2282M ENCORE: A randomized, controlled, open- Adult and Pediatric Subjects with Urea Cycle Disorders
label non-inferiority study comparing eliglustat to (UCDs) Participating in Glycerol Phenylbutyrate (GPB)
imiglucerase in Gaucher disease type 1 patients Clinical Trials. D. Hook.
stabilized on enzyme replacement therapy: 24-month
results. T. A. Burrow. 2298M Predictive Value of Blood Ammonia and
Glutamine to Hyperammonemic Crises in Patients with
2283T Assessment of Pompe Patients at Reference Urea Cycle Disorders. B. Lee.
Center of Inborn Errors of Metabolism (CREIM). P.
Feliciano. 2299T Gene trap of NDUFS4 in mouse is a viable model
of mitochondrial complex I deficiency. B. Graham.
2284M CYP2D6 phenotype-based dosing of eliglustat.
S. Turpault. 2300M A Molecular Genetic Study of Indian Patients
with Glycogen Storage Disorders reveals Six Novel
2285T Hematopoietic stem cell transplantation in a Mutations. S. Shetty.
very young child with Hunter Syndrome: four year
follow-up. A. L. Barth. 2301T Stable Isotope Breath Tests to Assess
Metabolite Flux in Methylmalonic Acidemia (MMA). E.
2286M Inhibition of Hepatic Mitochondrial Metabolism A. Harrington.
during Systemic Immune Activation. P. J. McGuire.
2302M Diagnosis of Lesch-Nyhan syndrome in an
8-year-old male referred by nephrology for elevated
serum uric acid. L. Pugliesi.
POSTER SESSIONS 163
2321S REU Site: Research Experiences for
Genetics/Genomics Education Underrepresented Minority Undergraduates in Basic
Science and Genetic Research at Louisiana State
University Health Sciences Center (LSUHSC). K. Foley.
2303S The UDP Self Study Short Course for Genome
POSTER SESSIONS
Wide Analysis. T. C. Markello.
2322S Gene hunting with IMG-ACT: Integrating
genomics research into the undergraduate biology
2304S Effectiveness of Personalized Genetic Education
curriculum. K. Moitra.
Modules. A. Jenks.
2323S Development of a molecular test and human

2305S “Hey Doc, here is my DNA sequence, what do
pedigree analysis on Alpha-1 Antitrypsin Deficiency.
you think?”. M. Kriek.
A. Olson.
2306S Teaching Genomic Medicine to Physicians - this
2324S Using a PyMOL activity to reinforce the
is our responsibility as medical geneticists !!! I. Maya.
connection between genotype and phenotype in an
undergraduate genetics laboratory. A. Ribes-Zamora.
2307S Medical Student Confidence and Knowledge
about Hereditary Retinoblastoma. J. Govindavari.
2325S Orchid DNA-Barcoding: a guided research
project for undergraduate genetics students. A. D.
2308S Creation of a genetics education program for
Simmons.
OB/GYN resident physicians. C. M. Osborne.
2326S Sex and Gender Differences in Health:
2309S Preparing future physicians to practice genomic
Educational and Collaborative Outreach to Genetics
medicine: Lessons from the first two years of the
Researchers, Clinicians, and Students. M. R. Tennant.
University of Miami Master of Science in Genomic
Medicine program. W. K. Scott.
2327S Studying Ourselves: Using SNP Genotyping to
Engage Undergraduates in Genetics and Research. E.
2310S Building Integrated, Individualized, Themed
E. Murray.
Genetics Electives for Resident Trainees at Johns
Hopkins. T. Wang.
2328S Statewide Education Regarding Personalized
Genomic Medicine, the Iowa Experience. C. A.
2311S Personal Pharmacogenetic Testing in the
Campbell.
Medical School Curriculum: Student Knowledge and
Attitudes. S. C. Sanderson.
2329S Molecular Genetic Studies in Indian Patients
with Ectodermal Dysplasia. S. Kushmakar.
2312S Dissecting the genetic susceptibility to sporadic
molar pregnancies and mechanisms of their formation.
Y. Khawajkie.
Ethical, Legal, Social and Policy
2313S Kyoto Model of developing a genetics education Issues in Genetics
program in Japan. N. Akiyama.
2330M Patient Perspectives on the Use of Electronic
2314S Attitudes and Response to Genetic Risk Health Records for Research: The MI-GENES Study. R.
Information Among Adolescents. C. Bloss. A. Haddad.
2315S Teaching the relationship between genotype and 2331T A systematic review of individuals’ perspectives
phenotype with public data and Molecule World™ on on broad consent and data sharing in the United
the iPad. TM. Smith. States. N. A. Garrison.
2316S Teaching the genome generation, a laboratory 2332M Attitudes and concerns related to placing
intensive high school genomics and ethics course. C. genomic information in the electronic medical record:
Wray. a survey of biobank participants. A. Fiksdal.
2317S Learning a language through Genome 2333T Research Use of STored samples (RUST)-
Education: Spanish School Experience. S. C. Zapico. Community Perspectives from a Developing Country.
S. Ramalingam.
2318S Accelerating public awareness of personal
genetics. D. Waring. 2334M Genes for Good: An Online Community Study
of Genes, the Environment, Health and Disease. J. R.
2319S Celebrity disclosures and information seeking: Forster.
The case of Angelina Jolie. R. Juthe.
2335T Practical Solutions for Protecting Individual
2320S Public Perspectives on Genetic Ancestry Genomic Privacy. J. Fellay.
Testing. C. D. Royal.
164 POSTER SESSIONS
2336M Data Sharing in Human Pluripotent Stem Cell 2353T Unknown knowns? Challenging concepts for
Research: Developing a Principled, proportional patient regarding whole-exome sequencing. J. M.
process. R. Isasi. O’Daniel.
2337T Utilizing Online Consent and Data Collection 2354M Changing Preferences About Secondary
in Studying Genetic Changes Related to Autism. B. Results From Exome Sequencing: Separating
Smith-Packard. Preference Setting from Informed Consent. J. Crouch.
2338M Whole genome sequencing of children: 2355T Next generation DNA sequencing and incidental
Consent, parental choice, and the hunt for secondary findings: consultant's opinion about the impact of
variants. N. Monfared. being informed. J. Forbes.
2339T Pediatric whole genome sequencing: the 2356M Compare and Contrast: A cross-national study
benefit-risk calculus of parents and health care across UK, USA and Greek Experts toward Return of
providers. R. Z. Hayeems. Incidental Findings from Clinical Sequencing. E. G.
Gourna.
2340M Attitude toward genetic research on children
and informed assent. Z. Yamagata. 2357T Participant satisfaction with a preference-
setting tool for the return of individual research results
2341T EuroGentest Guidelines for Diagnostic Next in pediatric genomic research. I. Holm.
Generation Sequencing. P. Bauer.
2358M Patients’ Perceptions of Whole Genome
2342M Attitudes toward direct-to-consumer genetic Sequencing Results and Plans to Use Non-Actionable
testing and its regulation in Japan. K. Muto. Findings. L. Jamal.
2343T Development of the Clinical NGS Industry in a 2359T What do younger breast cancer patients
Shifting Policy Climate. M. A. Curnutte. want to learn about individual results from genome
sequencing? K. A. Kaphingst.
2344M The protection of genetic privacy in the
European Union and the proposed data protection 2360M Returning incidental findings to family members
reforms. A. C. de Paor. of deceased research participants: Perspectives from
a cancer biobank. B. A. Koenig.
2345T Towards an ethics “safe harbor” for global
genomic research. E. S. Dove. 2361T How Research Participants Value Result
Confirmation in CLIA Compliant Laboratories. M. Y.
2346M Analysis of ethical and social issues of large Laurino.
scale genome cohort/biobanking projects in Japan. J.
Minari. 2362M Ethical implications of incidental findings
found by array-CGH in a routine clinical population. M.
2347T De-implementation of newborn bloodspot Lefebvre.
screening: ethical and policy issues. S. G. Nicholls.
2363T Returning Participants Results from Genome
2348M Concerns of researchers and physicians Research in National Health and Nutrition Examination
regarding the chromosomally integrated HHV-6. V. Surveys. J. McLean.
Noël.
2364M Parental decision-making for children enrolled
2349T Regulating Gamete Donation in the US: Ethical, in exome sequencing research and attitudes toward
Legal and Social Challenges. M. Sabatello. receiving variants of uncertain significance. J. Sapp.
2350M Illuminating the changing landscape from 2365T “Bring it on!” Preference setting for secondary
newborn screening to newborn sequencing: Ethical, results from exome sequencing using My46. H. Tabor.
psychological, and societal implications for research
and policy-making in the genomics era. L. Bush. 2366M Returning findings within longitudinal cohort
studies: the 1958 Birth Cohort as an exemplar. S.
2351T Whole genome sequencing in newborn Wallace.
screening? A Statement on the continued importance
of targeted approaches in newborn screening 2367T Participant preferences regarding the return of
programmes. B. M. Knoppers. mental health related research results from a pediatric
biobank and associations with social-demographic
2352M Abundant pleiotropy complicates the return of factors, comfort and concerns with novel health
genetic results and incidental findings. J. M. Kocarnik. information. E. Weitzman.
POSTER SESSIONS 165
2368M Uptake and motivations to learn incidental
genome sequencing results among cancer patients. E. Genetic Counseling
Glogowski.
2384S Psychosocial factors associated with the uptake
2369T Penetrance of Actionable Incidental Genomic
POSTER SESSIONS
of contralateral prophylactic mastectomy among
Findings in Exomes from the Framingham Heart Study. BRCA1/2 noncarriers with newly-diagnosed breast
N. B. Gold. cancer. J. G. Hamilton.
2370M Attitudes of Genetics Professionals Toward 2385S The Effect of Disclosing Coronary Heart Disease
Return of Incidental Results from Exome and Whole Genetic Risk on Shared-Decision Making. T. M.
Genome Sequencing. J. Yu. Kruisselbrink.
2371T Participant Experiences Receiving Incidental 2386S Adopting Genomes - Motivations of Adopted
Findings Through Genome Sequencing. K. L. Lewis. Persons when seeking Personal Genomic Services. N.
M. Baptista.
2372M Does prior comfort with new health information
influence parents’ preferences for receiving genetic 2387S Expert knowledge shapes decision-making for
research results about their children? N. Huntington. couples receiving uncertain prenatal chromosomal
microarray testing results. M. A. Rubel.
2373T Navigating Contested Ideas about DNA Ancestry
Testing in American Indian and Freedman Populations 2388S A genomic decision aid linked to the electronic
in Oklahoma. J. W. Blanchard. health record to disclose coronary heart disease risk
and enable shared decision-making. K. Shameer.
2374M Direct-to-Consumer Ancestry Testing:
Psychological and Behavioral Impacts. D. L. Boeldt. 2389S The predictive power of breast cancer family
history in the clinic. H. C. Cox.
2375T Motivations for Participation in Genomic
Research in Hispanics vs. Non-Hispanics. M. L. 2390S Colorectal cancer screening for people with a
Cuccaro. family history: should recommendations vary by age? I.
Lansdorp-Vogelaar.
2376M Reasons for declining preconception carrier
testing using genome sequencing: Implications for 2391S Improving pedigree capture: Development
research and practice. M. Gilmore. and validation of an interview-optimized iPad app to
eliminate the need for paper. J. M. Miller.
2377T Personal Genomics Online in Australia: A mixed
methods study of Australian consumers’ knowledge, 2392S Non-specific psychological distress in women
attitudes and experiences of direct-to-consumer undergoing noninvasive prenatal testing because of
personal genome testing. J. Savard. advanced maternal age. N. Suzumori.
2378M A novel scale to assess perceptions of 2393S Diagnostic challenges and behavior problems in
uncertainty in genome sequencing information. B. Rwandan patients with disorders of sex development:
Biesecker. ethical issues in african context. L. Mutesa.
2379T The influence of false positive results from 2394S Making sense of diagnostic uncertainty after
newborn screening for cystic fibrosis on cascade newborn screening for cystic fibrosis. C. J. Barg.
testing and family planning. Y. Bombard.
2395S Reconciling the downsides of screening:
2380M Personalized medicine in the context of Mothers’ experiences with false positive CF NBS
prenatal diagnosis and medically assisted procreation. results. F. A. Miller.
G. Lapointe.
2396S Numeracy, Genetic Knowledge, and Perceived
2381T ACE, ACTN3 and ADRB3 polymorphisms in Risk for Coronary Heart Disease in the MI-GENES
elite soccer players according to the team position. L. Study. H. Jouni.
Ruzic.
2397S Genomic Sequencing in the Infant Population:
2382M Influence of the social environment on the Exploring Parental Motivations, Expectations and
development of breast cancer through epigenetic Utilization of Sequencing Results in the Tell Me More
modifications: A comprehensive scoping review. O. Study. F. Facio.
Martin.
2398S Supporting the International Rare Diseases
2383T Genetic Ancestry Testing and Identity: Exploring Research Consortium: achievements and challenges.
the Relationship. C. M. Wolpert. P. Lasko.
166 POSTER SESSIONS
2399S Assessment of factors that should be addressed 2415S Genetic Test Recipient as a Source of Data:
in prenatal counseling for non-invasive prenatal test. A Novel Approach to Obtaining Genotypic and
L. Wang. Phenotypic Data for Input into Genomic Databases. B.
E. Kirkpatrick.
2400S Genetic Counselling for Psychiatric Disorders:
Exploring the Psychiatric Health Professionals’ 2416S A comparison of anthropometric status, blood
Perspective in the United Kingdom. S. E. Jenkins. pressure and oxygen saturation in athletic and non-
athletic females. H. Kaur.
2401S Autism Spectrum Disorder in Taiwan: Parents’
report. J. Ye. 2417S The NINDS Repository: A Public Collection
of Biomaterials for Disease Modeling, Gene and
2402S Carrier screening of recessive disorders in vitro Biomarkers Discovery in Neurological Research. C.
fertilization couples and gamete donors and recipients Tarn.
by targeted next generation sequencing. A. Abulí.
2418S Patients and caregivers as sources of innovative
ideas and solutions: A multiple case study approach.
Health Services Research V. Francisco.
2419S Diffusion as a validation process: Learning from

2403S Inherited cancer predisposition in children:
patient innovators. S. A. Oliveira.
challenging issues faced by a genetic clinic in a
pediatric oncology hospital. F. T. de Lima.
Clinical Genetic Testing
2404S Implementing a universal public health policy for
the care of rare diseases in Brazil. D.DG. Horovitz.
2420S Multiplex panel testing improves the yield of
2405S Effect of Co-Payment on Behavioral Response mutation detection in cancer genetics clinics. J. O.
to Consumer Genetic Testing. J. Outlaw. Culver.
2406S Costs and burden of pediatric hospital 2421M Cost-effective NGS based BRCA - TP53
admissions with a single gene or chromosomal screening panel for hereditary breast cancer in India.
diagnosis, United States, 2009. R. Fisk Green. M. Sen.
2407S Utilizing telemedicine to support informed 2422T A Two-Step Clustering Methodology for
decision making and expand access to cancer genetic Grouping Clinical Genetic Testing Panels. G. Hooker.
services in community clinics. A. R. Bradbury.
2423S Recurrent hydrocephalus by POMT2 mutation
2408S Cree Leukoencephalopathy and Cree unraveled by exome sequencing of DNA from
Encephalitis Carrier Screening Program: Evaluation of preserved Umbilicus. K. Kosaki.
Knowledge and Satisfaction of High School Students.
J. Le Clerc-Blain. 2424M Targeted Single-Molecule Oligonucleotide-
Selective Sequencing for Genetic Diagnostics. S.
2409S Determinants of the value of genetic testing in Bruce.
clinical decision-making. B. Lerner.
2425T Implementing next generation sequencing in
2410S Lean - production management rules applied to clinical practice of children’s hospital. Y. Enomoto.
a genomics core facility. J. Altmüller.
2426S Active organic solvent-free paraffin removal is
2411S Newborn screening for cystic fibrosis: role of the key to efficient extraction of NGS-quality DNA from
primary care providers in caring for screen positive FFPE tissues. H. Khoja.
children. J. C. Carroll.
2427M CONNECT1: Next-Generation Sequencing Chip
2412S An assessment of clinician and researcher for Dominant Connective Tissue Disorders. J. Milunsky.
needs for support in the era of genomic medicine. C.
A. Brownstein. 2428T Xeroderma Pigmentosum (XP): Single nucleotide
variants (SNV) that probably affect function in two
2413S Physician Response to EMR-Based Genetic Indian families identified using next generation
and Non-Genetic Risk Results for Actionable Complex sequencing (NGS) of 8 XP genes. K. Reddy.
Disease and Pharmacogenomics in a Randomized
Controlled Trial of Genomic Counseling. K. Sweet. 2429S Steroid resistant nephrotic syndrome (SRNS):
NGS panel testing to direct therapy and intervention. L.
2414S A rapid evidence review for the inclusion of J. Yarram-Smith.
genetic data in clinical care for a common, complex
disease. J. Malinowski. 2430M Validation of a Robust PCR-only Assay for
Quantifying Fragile X CGG Repeats. K. W. Choy.
POSTER SESSIONS 167
2431T Bridging the gap between sequencing gene 2447S Diagnostic sequencing in integrated clinical
panels and whole exomes for clinical diagnosis. S. and research laboratory setting for 100 families at
Abbs. the Dorrance Center for Rare Childhood Disorders. S.
Szelinger.
2432S Implementing an Augmented Clinical Exome
POSTER SESSIONS
and Reference Improvements to Enhance Diagnostic 2448M An intronic deleted mutation in the COL3A1
Yield and Discovery. R. Chen. gene affecting exon skipping causing vascular Ehlres-
Danlos syndrome. A. Watanabe.
2433M Contextualization and recommendation:
How doctors and patients discuss whole-genome 2449T The Relationship between Blood Index and
sequencing results. J. L. Vassy. Thalassemia Disease. N. Ghazavi.
2434T Towards highly sensitive diagnostic exome 2450S Investigation of Genomic Deletions and
sequencing without the need for confirmations by Duplications by Custom MLPA in a Cohort of
Sanger sequencing. K. L. I. van Gassen. 338 Patients with Obesity, Developmental Delay,
Hyperphagia, and Additional Features. C. S. D’Angelo.
2435S Biological assays to predict the functional
impact of missense mutations: the case of the tumor 2451M Prenatal detection of chromosomal aberrations
suppressor gene BRCA1. G. A. Millot. and its reflection at adult age. B. B. Ganguly.
2436M Complete APTX deletion in a patient with ataxia 2452T 45,X (30%); 46,X,i(Xq) (60%) mosaicism. Case
with oculomotor apraxia type 1. R. van Minkelen. report. M. Pérez Sánchez.
2437T Next generation sequencing of the HEXA 2453S Comparison of whole genome amplification
and HEXB genes in African Americans with positive (WGA) methods for detection of genomic aberrations
enzymatic carrier screening result for Tay-Sachs using low coverage massive parallel sequencing. D.
disease. J. Zhang. Deforce.
2438S Enhanced detection of large indels in diagnostic 2454M Supporting the free exchange of clinical
exome sequencing. D. Shinde. laboratory variant data through VariantWire. S. Baxter.
2439M Efficient diagnostic routing using whole exome 2455T Developing Exclusion Datasets for Genome
sequencing. M. Weiss. Filtering in the MedSeq Project. K. Machini.
2440T Performance of in silico sequence conservation 2456S Diagnostic Exome Sequencing provides
tools in predicting the pathogenicity of missense diagnoses among patients with abnormal brain MRI
variants in HBOC and Lynch syndrome-associated findings. K. D. Farwell Gonzalez.
genes. I. D. Kerr.
2457M Identification of a Novel De Novo Mutation
2441S Detection of Pathogenic Mutations in Moderate Associated with PRKAG2 Cardiac Syndrome and Early
Penetrance Breast Cancer Genes Significantly Onset of Heart Failure. M. Jurkowska.
Increases the Number of Patients Identified as
Candidates for Increased Screening. E. Rosenthal. 2458T Targeted massively parallel sequencing in
molecular diagnosis: a Brazilian report. M. Lazar.
2442M Update on evaluation of ACMG Recommended
Incidental Findings in Clinical Whole Exome 2459S Prevalence of medically actionable findings: a
Sequencing. P. Vitazka. summary of clinical Whole Exome Sequencing cases.
Z. Niu.
2443T Targeted gene panel sequencing using multi-
parallel single-plex PCR amplification for the detection 2460M Identification of Complex Rearrangements of
of somatic mutations. K. Yap. the MECP2 Gene Requires a Combination of Molecular
Diagnostic Techniques. S. Ordorica.
2444S Clinical and technical evaluation of NGS based
testing for hereditary cancer syndromes. S. Lincoln. 2461T Pathogenic mutations in genes responsible for
Maple Syrup Urine Disease type 1A (BCKDHA), type
2445M Beyond BRCA1 and BRCA2: results from 1B (BCKDHB), and type 3 (DLD) determined in a large
screening 94 genes in 200 patients with familial breast pan-ethnic cohort. C. Perreault-Micale.
and ovarian cancer using panel sequencing and
custom array-CGH. A. Rump. 2462S Molecular Genetic Determination of Maple syrup
urine disease cases from southwest Iran. A. Sedaghat.
2446T Reporting Candidate Genes: Identifying a
Potential Genotype-Phenotype Correlation via Whole
Exome Sequencing. J. Neidich.
168 POSTER SESSIONS
2463M A homozygous frameshift insertion in the 2479T Identification of 290-bp deletion as a first report
MRPS34 gene identified in a family with two affected on the beta- globin gene in South of Iran. M. Hamid.
boys Suffering from progressive retinal dystrophy. G.
Shariati. 2480S PCR-based method for complete HLA gene
sequencing and capture-based method for entire HLA
2464T Beyond Bias: Broadening the phenotype of region sequencing. K. Hosomichi.
genetic disorders using very large gene panels. C.
Stanley. 2481M Identifying disease causing variants ranging
from SNVs, small InDels, single exon to whole gene
2465S Development of a Hereditary Spastic deletions in the RB1 gene through a single NGS-based
Paraplegia gene panel using exome sequencing. D. J. test. D. L. Abramovitz.
Stavropoulos.
2482T Diagnoses by Clinical Exome Testing Suggest
2466M Exome-based Neurological Region of Interest Wider than Expected Phenotypic Spectra on New
Assay for Identifying Pathogenic Sequence Variants. J. Disease Genes: Implications for Choosing Testing
Thompson. Strategy and Interpretation of Results. F. Xia.
2467T RYR1 [Arg2454His] gene mutation identified in 2483S Comprehensive Evaluation of Congenital
a family associated with malignant hyperthermia - an Immunodeficiency by Next Generation Sequencing. E.
undergraduate research project. J. Li. B. Gorman.
2468S An exome sequencing strategy to diagnose 2484M Utility of Expanded Gene Panels in Clinical
lethal autosomal recessive disorders. S. Ellard. Diagnostics: A Tale of a Laboratory’s Experience with
Two Autism Testing Panels. R. T. Hagelstrom.
2469M Molecular diagnosis of congenital
hyperinsulinism improves medical management and 2485T Important Factors in Designing Accurate and
long-term outcome. G. Alkorta-Aranburu. Reliable Next-generation Sequencing (NGS) Assays. P.
Mueller.
2470T Carrier Screening in the Sephardic/Mizrachi
Jewish Population for Genetic Disorders with Known 2486S Proband whole-exome sequencing as a cost-
Founder Mutations. X. Cai. effective diagnostic strategy for suspected Mendelian
disorders. J. Thevenon.
2471S Clinical whole exome sequencing in a group of
pediatric heterogeneous disorders: Yield and new gene 2487M Whole exome sequencing in patients with
discoveries. J. Gauthier. intellectual disability. M. Mila.
2472M Towards the development of a standardized 2488T Does increase in genomic microarray resolution
analytical pipeline for clinical whole genome analysis result in increased diagnostic yield? S. Costa.
for rare disease diagnosis. R. K. Iyer.
2489S Investigation by array comparative genomic
2473T Population diversity and the genetics of hybridization (aCGH) in patients with syndromic retinal
hypertrophic cardiomyopathy. A. K. Manrai. dystrophies: Preliminary results. L. R. J. da Silva.
2474S Prevalence of variants of unknown significance 2490M Retrospective comparison of SNP microarray
in a next-generation sequencing panel: an experience and cytogenetics analyses of products of conception.
with autism spectrum, intellectual disability, and J. B. Schleede.
dysmorphic features disorders. M. Nelson.
2491T Limb-girdle muscular dystrophy 1G: how
2475M Comprehensive Analyses of Causative Variants frequent are mutations in this gene? V. Nigro.
in Hereditary Nephrotic Syndrome (NS) in Children:
Frequency, Clinical Utility and Phenotype- Genotype 2492S An alternative method for the analysis of
Correlation. F. E. Orkunoglu-Suer. deletions/duplications with MLPA©using the QIAxcel©
Advanced System. S. B. Fischer.
2476T Targeted Gene Panel for Diagnosis of Nephrotic
Syndrome in Pediatric Patients. J. Rousseau. 2493M The SickKids Genome Clinic: a model for
paediatric diagnostic and predictive genomic
2477S A novel EDA splice site mutation cause medicine. M. S. Meyn.
hypohidrotic ectodermal dysplasia in a heterozygous
female with severe phenotype. C. Weng. 2494T Progress of Noninvasive Prenatal Testing (NIPT)
of Mendelian disorders. F. Chen.
2478M Follow-up of the first 250 clinical WES cases:
periodic re-analyses revealed additional molecular 2495S Increased yield and detection of confined
diagnoses. Y. Yang. placental mosaicism by chromosome microarray
testing of chorionic villus samples. J. Reiner.
POSTER SESSIONS 169
2496M Sample Identification SNP Panel for Exome, 2511M Next generation sequencing panel for study of
Transcriptome and Whole Genome Sequencing. K. genes associated with Epilepsy using a novel single
Duvefelt. step enrichment and library preparation technology. Y.
Shevchenko.
2497T Detecting copy number variations on the X
POSTER SESSIONS
chromosome in Chinese children with intellectual 2512T PACTS: Development, validation and
disability. H. Xie. implementation of a low cost, high-throughput
combination carrier screen/PGx using targeted
2498S Miami Otogenetic Program: Implementing nanofluidic PCR and massively parallel sequencing. J.
genomic medicine in care of patients with impaired Buis.
hearing. XZ. Liu.
2513S Next-Generation Sequencing of the “Clinome”
2499M Whole-Exome Sequencing to decipher the in a hypotensive newborn identifies novel mutations in
genetic heterogeneity of hearing loss in a Chinese ACE of the renin-angiotensinogen system. H. Daoud.
family with deaf by deaf mating. J. Qing.
2514M MASTR Technology based targeted gene panels
2500T Comprehensive Characterization of AML Clinical for comprehensive diagnostic MPS based analysis of
Samples Using MyAML™: A Novel AML Targeted inherited and acquired mutations. J. Del Favero.
Sequencing Strategy. A. R. Carson.
2515T Next-generation sequencing as a genetic
2501S Mutations in the PNPLA8 gene encoding the diagnostic tool to improve the detection of tuberous
mitochondrial calcium-independent phospholipase A2 sclerosis complex (TSC) causative variants. H. Li.
in a patient with lactic acidosis, spasticity, abnormal
gait, dystonia and complex partial seizures. I. Thiffault. 2516S Comparative study for the evaluation of a new
technology for cystic fibrosis screening. M. Majolini.
2502M Development of a Next Generation Sequencing
Panel for Clinical Diagnosis and Prognostication in 2517M Clinical application of an anion exchange HPLC
Hematologic Neoplasm Patients. M. Middha. column that distinguishes DNA methylation status. K.
Miyake.
2503T Detection of copy number variations in
breast cancer samples using single-nucleotide 2518T Development and verification of a Noonan
polymorphism-targeted massively multiplexed PCR. R. genes Ion AmpliSeq™ panel. M. Nelen.
K. Swenerton.
2519S Combined Approach of Targeted Exome
2504S Automated miRNA expression profiling in FFPE Sequencing and Sanger Sequencing to Detect
tissue using nuclease protection coupled with next Pathogenic Mutations in Autosomal Dominant
generation sequencing. D. Thompson. Polycystic Kidney Disease. H. Park.
2505M Non-invasive cell-free tumor DNA-based 2520M Development of panel for simultaneous
detection of breast cancer-related copy number screening of 98 mutations related with hearing loss. M.
variations. B. G. Zimmermann. C. C. M. Svidnicki.
2506T High sensitivity coupled with low false positives 2521T Genetic testing of targeted genes using next
through use of a position and sequence specific error- generation sequencing on PCR amplicons. W. Yang.
model in in NGS based somatic DNA sequence variant
calling in a targeted cancer panel. D. Brinza. 2522S Classification of Incidental Finding Variants in
6503 Participant’s Exomes. L. Amendola.
2507S Detection, estimation and correction of
technical effects in copy number estimation using NGS 2523M Detection, characterization, and validation
in a targeted cancer panel. Y. Zhan. of Hematological Malignancies with Archer(TM)
FusionPlex(TM) Heme NGS assay. B. Culver.
2508M MLPAseq: Assaying genomic copy number
variation using multiplex ligation-dependent probe 2524T Enabling Genomic Clinical Variant Assessment
amplification paired with high-throughput sequencing. and Reduction of Variants of Unknown Significance
D. J. Kvitek. through Intelligent Scoring. C. L. Mead.
2509T Identification of five G6PD common deficiency 2525S Sensitive and Comprehensive Method to
variants using a novel SNaPshot method in patients of Detect Mutations in RB1 Gene Improves Care for
the province of Chiriqui, Panama. O. I. Batista. Retinoblastoma Patients and Their Families. W. Li.
2510S Application of Serum miRNA Signature for 2526M A multi-platform amplicon sequencing method
Minimization of Immunosuppression and Diagnosis of for fast and reliable variant detection. M. Toloue.
Rejection Following Liver Transplantation. B. J. Keating.
170 POSTER SESSIONS
2527T A Comprehensive Profile of Hereditary 2543S Universal Lynch syndrome screening in an

Myopathies by Next Generation Sequencing on 43 integrated health care system: Assessment of patient
Early-Onset Patients and Subsequent Development of perspectives on benefits and barriers. J. E. Hunter.
a Biomarker Assay by Liquid Chromatography-SRM-
Mass Spectrometry. S. Hahn. 2544M Diagnostic Exome Sequencing as the
Foundation of Building Pharmacogenomics Based
2528S Genetic Diagnosis of Duchenne Muscular Therapeutic Models for the Treatment of Ion Channel
Dystrophy by Clinical Exome, Whole Genome and Epilepsy. S. K. Gandomi.
Transcriptome Sequencing. R. T. Wang.
2545T Next-generation sequencing diagnostics
2529M Hi-Plex: a flexible, streamlined and cost- for inherited arrhythmogenic cardiac disorders. C.
effective approach to targeted massively parallel Marschall.
sequencing. T. Nguyen-Dumont.
2546S Genetic testing leads clinical care in neonatal
2530T GenoDENT: A targeted next-generation diabetes: a new paradigm. E. De Franco.
sequencing assay for the diagnosis and discovery of
mutations in buccodental disorders. M. Prasad. 2547M Identification and characterization of CFTR
deletion and duplication mutations among nonwhite
2531S A new approach to target capture for genetic patients with cystic fibrosis. I. Schrijver.
testing: a novel DNA enrichment method for next-
generation sequencing applied to clinically-relevant 2548T Predicted management implications of
genes. C. Richard. CytoScan Dx® Assay in a consecutive cohort
of patients suspected of Developmental Delay,
2532M Nijmegen breakage syndrome detected by Intellectual Disability, and/or Congenital Anomalies. A.
newborn screening for T cell receptor excision circles Chaubey.
(TRECs). A. N. Adhikari.
2549S Comprehensive evaluation of the FBN1, LTBP2
2533T Establishing distinctive criteria for reporting and ADAMTSL4 genes in 667 patients with ectopia
genomic sequencing results in healthy versus ill lentis. B. Callewaert.
newborns: The BabySeq Project. O. Ceyhan-Birsoy.
2550M Barriers to Cytogenetic Testing in Adults with
2534S Detection of Low Level Mixed Chimerism Using Congenital Heart Disease. J. Vengoechea Barrios.
High Throughput SNP Genotyping. A. A. Nakorchevsky.
2551T Optimized workflow for single cell copy number
2535M Silver-Russell syndrome and segmental profiling using high resolution oligo CGH arrays. S.
UPD(7q) detected by array CGH. P. Tavares. Basehore.
2536T Ciliome resequencing: a lifeline for molecular 2552S Performance comparison between low
diagnosis in leber congenital amaurosis. S. HANEIN. coverage semiconductor sequencing and array
comparative genomic hybridization to analyze copy
2537S Somatic mosaicism for a novel PDHA1 mutation number variation. B. Min.
in a male with severe pyruvate dehydrogenase
complex deficiency: a case report and literature 2553M Effects of clinician guided genomic risk
review. S. Zhang. assessments: HelloGene. H. Jin.
2538M Performance evaluation of inherited disease 2554T Rare finding of non-transient congenital extra
panels for Korean patients with Limb-girdle muscular and intra-medullary acute myeloid leukemia with
dystrophies (LGMD). H. Kim. Beckwith-Wiedemann syndrome. G. A. Jervis.
2539T Expanding the phenotype of genes encoding the 2555S Screening Results From 79424 Patients Tested
components of the PI3K pathway. M. A. Walkiewicz. by CFnxt, a 147 Mutation Cystic Fibrosis Screening
Assay Built on the Illumina BeadXpress® Platform. C.
2540S Clinical advantages of high coverage Holland.
comprehensive NGS panels in the molecular diagnosis
of hereditary cancer mutations. H. Dai. 2556M A novel StripAssay identifies genetic variants
modifying beta-thalassemia disease severity. C.
2541M Mutations in STK11 identified exclusively in Oberkanins.
individuals with clinical histories suggestive of Peutz-
Jeghers syndrome. J. S. Dolinsky. 2557T A multidisciplinary approach to the evaluation
and care of patients with inherited lung disease. B.
2542T Risks associated with utilizing molecular data to Raby.
guide tumor surveillance in BWS. C. Shuman.
POSTER SESSIONS 171
2558S Identification of truncating mutations in the 2574M Fabry disease diagnosed through family
CHD8 gene in patients with autism spectrum disorders screening. G. Sarca.
by clinical whole exome sequencing (WES). J. Zhang.
2575T Translating allelic heterogeneity of GJB2 gene
2559M Use of a Patient-Centered Conceptual to clinical practice in Romanian population with
POSTER SESSIONS
Framework to inform the development of the ClinGen congenital isolated hearing-loss. E. Severin.
Resource. M. S. Williams.
2576S Where’s the Benefit? Views on Genetic Testing
2560T Mutation analysis of CYP21A2 and correlation for ASD. K. B. Shutske.
between genotype - phenotype in 163 Vietnamese
patients with congenital adrenal hyperplasia due to 2577M Pediatric neurodevelopmental disabilities
21-hydroxylase deficiency. V. Dung. refractory to traditional diagnosis: Diagnostic rate,
cost and change-in-care of whole genome versus
2561S Preventive effects of -tocopherol on telomere exome sequencing. S. F. Kingsmore.
shortening in human buccal cells. S. Yabuta.
2578T Whole exome sequencing identified a RP2
2562M Expanded Screening for Pathogenic Mutations mutation in a large Turkish family. E. Koparir.
in the Ashkenazi Jewish Population. B. Baskovich.
2579S Whole exome sequencing as a tool to enhance
2563T Clinical exome sequencing: Initial experience patient care: Experience in a midsize academic clinical
in a pediatric and biochemical genetics clinic. J. A. genetic setting. A. Pandya.
Bernat.
2580M Diagnostic exome sequencing establishes
2564S Implications of Massively Parallel Sequencing in molecular diagnoses among patients with
screening for Autosomal Recessive conditions: the risk gastrointestinal disease. L. Shahmirzadi.
of being a “genetic wallflower”. L. Burnett.
2581T Assessment of a next generation sequencing
2565M Analyses of TSC genes among Brazilian panel to detect mutations in 40 genes causing renal
tuberous sclerosis complex (TSC) patients. L. G. tubulopathies. E. Ashton.
Dufner-Almeida.
2582S Effective diagnosis of genetic disease by
2566T The Implementing Genomics in Practice computational phenotype analysis of the disease-
(IGNITE) Network: A Coordinated Effort to Study associated genome. T. Zemojtel.
and Improve Implementation of Genomics in Clinical
Practice. S. E. Kimmel. 2583M Genomic diagnosis in children with
developmental delay/intellectual disability. K. Bowling.
2567S Clinical exome sequencing identifies a novel
gene, LINS, associated with intellectual disability, 2584T Autosomal Dominant Hypertrophic
failure to thrive, seizures, dysmorphology, and Cardiomyopathy (HCM) is an important modifier of the
language regression. I. Lu. cardiomyopathy of Fabry Disease (FD): Implications for
-Galactosidase A replacement therapy. D. Doheny.
2568M Genetics of beta thalassemia in Iran: Still
requires consideration? N. Mahdieh. 2585S Characterization of Malaysian children with
Beckwith-Wiedemann syndrome and Silver-Russell
2569T Diagnostic Yield of Genetic Testing in the syndrome using methylation specific - multiplex
Children’s Hospital of Colorado Autism Genetics ligation-dependent probe amplification. M. Thong.
Specialty Clinic. N. J. L. Meeks.
2586M An age-based categorical framework to guide
2570S Whole exome sequencing as a diagnostic tool informed decision-making about next generation
for complex neurological disorders. G. R. Monroe. sequencing results in newborn screening. L. V. Milko.
2571M Genetic investigation of cystic fibrosis 2587T Targeted resequencing in intellectual disability
transmembrane regulator mutations in a cohort and epilepsy in routine diagnosis, preliminary results.
of consecutive patients candidate for assisted D. Lederer.
reproductive techniques. F. Papa.
2588S Should the ACMG expand the required
2572T Next-generation sequencing for the diagnosis reportable disorders or findings on Exome
of autism spectrum disorders using genomic capture Sequencing? Reporting a recent experience. R. M.
targeting multiple candidate genes. L. Rodriguez- Zambrano.
Revenga.
2589M Exploration of the benefit of risk-stratified
2573S Prevalence of ACMG Incidental Findings in The colorectal cancer screening based on common genetic
Cancer Genome Atlas Germline Samples. S. Sanga. variants - current status and future potential. S. K.
Naber.
172 POSTER SESSIONS
2590T HCV infection and interferon-based treatment 2605T Genetic basis of aging, telomeres and
induce p53 gene transcription in chronic hepatitis C telomerase. Four pediatric patients with premature
patients. J. Nowak. aging or cockayne’s syndrome. M. Barrientos- Perez.
2591S Assisted reproductive treatment is not a risk 2606S Copy Number Variation in
factor for chromosomal abnormalities in spontaneous Oculoauriculovertebral Spectrum. M. Colovati.
abortion. S. Shim.
2607M A rare combination: mosaic Turner
2592M A workflow based information system syndrome by isochromosome Xq with 17p13.3p13.2
infrastructure to support translational science: The microduplication and congenital cataract with
NIH Undiagnosed Diseases Program experience. A. E. autosomal dominant inheritance and incomplete
Links. penetrance in the same individual. J. A. Rojas Martínez.
2593T Assessment of the variant annotation 2608T Polycystic kidney disease and multiple
interpretive gap among major variant databases. M. malformations in a patient with tetrasomy 2q13q21.1.
Lee. L. Dupuis.
2594S Clinical whole exome sequencing (WES) 2609S Neurodevelopmental Profile and Cognitive
production update at Baylor Whole Genome Variability in Two Females with the Rare 48, XXXX
Laboratory (WGL): Improved procedures for faster TAT Chromosomal Disorder. D. C. Gibbs.
and better disease gene coverage. Y. Ding.
2610M 48,XXYY Syndrome: a wide spectrum of
2595M Clinical actionability of incidental findings: phenotypic presentation. A case report. L. F. Imbachi.
application of a semiquantitative metric to assess
actionability of over 1200 genes. A. K. M. Foreman. 2611T Clinical features of 5p13 duplication syndrome.
T. Kuchikata.
2596T Project of Iwate Tohoku Medical Megabank
Organization toward preemptive medicine. A. Shimizu. 2612S Klinefelter Syndrome (48, XXXY) in a Patient
With Mild Mental Retardation and Psychotic
2597S The ClinGen framework for defining the clinical Personality Traits. H. Pachajoa.
validity of monogenic disease associations for use in
research and clinical analyses. J. S. Berg. 2613M Maternal Uniparental Disomy Prader-Willi
Syndrome in an XYY boy. P. Phowthongkum.
2598M PCRstable: Chemical stabilization technology
for ambient genetic testing. G. Dodson. 2614T The Extended Phenotypic Spectrum of 7p14.3-
15.3 deletion syndrome. M. Michelson-Kerman.
2599T Public perceptions of disease actionability and
severity and their potential utility for making decisions 2615S Pigmentary mosaicism type Ito in a balanced
about Genomic Testing Results. P. S. Sinicrope. X-autosome translocation with no gene disruption at
the breakpoint. M. Melaragno.
Clinical Genetics and Dysmorphology 2616M Down syndrome before Lejeune, Gauthier, and
Turpin: Historical myths and reality. E. B. Hook.
2600S Conductive, Sensorineural, and Mixed Hearing
Loss in Patients with Down Syndrome. A. Musso. 2617T Implementation of high-resolution SNP arrays in
the investigation of patients with neurodevelopmental
disorders: 6 years of clinical experience. O. Palumbo.
2601M Human communication disorders in patients
with down syndrome. A. Romero-Diaz.
2618S Idic(15) syndrome: clinical studies of 32 new
individuals. A. Battaglia.
2602T Corpus Collosum Agenesis and Psychomotor
Retardation in a Female Patient with 15.4 Mb Deletion
of 14q12 q21.2 and 550 kbp deletion of 18p11.23; 2619M Large distal duplication of chromosome 22q.
Microarray Delineation of Imbalanced Chromosomal D. Ortiz.
Rearrangement. D. Torun.
2620T Prader-Willi syndrome: Toward Automated
2603S Deletion of 17p11.2 encompasses FLCN with Identification of Phenotypic Differences. L. Wolf.
increased risk of Birt-Hogg-Dubé in Smith Magenis
Syndrome: Recommendation for Cancer Screening. A. 2621S Wiring the Brain in Down Syndrome: Unique
C. M. Smith. Identical Twins Discordant for DS. J. R. Korenberg.
2604M AMMECR1 gene disruption and expression 2622M Congenital Myasthenia Syndrome: Uniparental
impairment in a balanced X-autosome translocation disomy of chromosome 2 and homozygous mutation of
patient. M. M. Oliveira. GFPT1. S. Rangasamy.
POSTER SESSIONS 173
2623T Craneofacilales and features aspects oral of 2640M Diamond-Blackfan anemia and intellectual
children with the poblano child hospital goldenhar disability: a new contiguous gene syndrome at
syndrome in the period 2013-2015. D. Reyes Ramirez. 15q25.2. M. Gorce.
2624S Intragenic CNTN4 Deletion in a Child with 2641T Expanding the Phenotypic Profile of Kleefstra
POSTER SESSIONS
Profound Speech Apraxia and Absence of Autistic Syndrome: a Female with Near-Normal Intelligence and
Features. J. Fleischer. Developmental Dyspraxia. D. Sisson.
2625M A 284kb microduplication at 7q21.11 involving 2642S Craniofacial Dysmorphism And Mild Intellectual
SEMA3A possibly linked to agenesis of corpus Disabilities In A Child With A Paternally Inherited
callosum and visual impairment in a patient with 14q32.1 Deletion. Y. Wang.
spastic quadriparetic cerebral palsy. D. Ma.
2643M Clinical features and molecular characterization
2626T Craniosynostosis in Williams Syndrome. N. in a subject with an interstitial deletion of 2q24.2. H.
Okamoto. Yoshihashi.
2627S Neurodevelopmental and neurobehavioral 2644T 22q11 deletion size in Chilean patients and
characteristics in males and females with CDKL5 association with clinical features. G. M. Repetto.
duplications. P. Szafranski.
2645S Unknown CNVs found in 52 Bulgarian
2628M Subtelomeric investigation in individuals with patients with intelectual disability and congenital
microform of HPE. L. Ribeiro-Bicudo. malformations. S. P. Hadjidekova.
2629T Discontinuous microdeletion at 1p13.3 2646M A rare case of speech sound disorder with a
involving NBPF4 but not ALX3 in a patient with severe heterozygous BCL11A deletion. A. Huang.
frontonasal dysplasia. A. Ali.
2647T Congenital asplenia in a patient with
2630S Growth Standards for Children and Adolescents chromosome 1p36 deletion. L. Pisani.
with Smith-Magenis Syndrome. L. R. Fleming.
2648S De novo deletion of 5q23.2-q31.1 in a boy
2631M Phenotype of double de-novo Williams and with global developmental delay, contractures and
DiGeorge microdeletion syndromes. A. Shukla. dysmorphic features: a contiguous gene deletion
syndrome involving morphogenesis and DNA repair. A.
2632T One cannot presume siblings with similar Guerin.
clinical findings result from the same underlying
genetic cause!—familial genome instability, leaky proof 2649M A case with mild phenotype of
reading mechanism, or true diagnosis? A. Tsai. holoprosencephaly is caused by de novo hemizygosity
for chromosome 2q14.1-q14.3 involving GLI2 gene. E.
2633S An interstitial microduplication in 17q11.2 Kirtas.
encompassing the NF1 gene, in a girl presenting
with a Prader Willi like syndrome: expanding the NF1 2650T Severe fetal phenotype of a dominant
microduplication. C. Vinkler. mesomelic dysplasia, associated with a 790 kb
microduplication of HOXD gene cluster at 2q31.1. S.
2634M Bilateral absence of the ulna in 4q terminal Odent.
deletion syndrome. M. Marble.
2651S Adaptive and Maladaptive Behavior, Profiles
2635T Congenital heart disease and Sturge-Weber and Developmental Trajectories in Children with
syndrome in a young female with 22q11.2 triplication. Subtelomeric Microdeletions. G. S. Fisch.
L. Mota-Vieira.
2652M Mosaic 15q11-q13 maternal duplication without
2636S Familial 17q12 duplication presented as Autism. N. Urraca.
SGA/IUGR and microcephaly during pregnancy: A
counseling dilemma. A. Singer. 2653T Prevalence of “Y” chromosome microdeletions
in infertile males of Gujarat Population, India. T. A.
2637M Atypical 22q11.2 deletion at the distal end of the Patel.
common 3Mb deletion. N. Bhatia.
2654S A microdeletion encompassing only three
2638T A novel microdeletion affecting SNRPN but genes within the Potocki-Shaffer syndrome interval
preserving distal gene expression leads to Prader-Willi at 11p11.2 associated with intellectual disability and
Syndrome. T. Diallo. craniofacial anomalies. J. D. J. Labonne.
2639S Overgrowth in association with 3q25 2655M Recurrent microdeletion 12p13 in maternal half-
microdeletion. K. Enomoto. siblings suggestive of gonadal mosaicism. A. F. Elias.
174 POSTER SESSIONS
2656T Chromosome microarray analysis in patients 2672S A CHARGE syndrome-like phenotype in a

with cleft lip/ cleft palate. P. Eydoux. patient with EP300 splicing mutation. S. Mizuno.
2657S Xq27.3-q28 duplication syndrome: a new 2673M Detection of GPC3 gene deletion by
consideration in the differential diagnosis of Prader- chromosomal microarray analysis in a patient with
Willi syndrome. M. R. Garcia. uncharacteristic Simpson- Golabi- Behmel syndrome.
A. Pietrzyk.
2658M Behavioral, Biochemical and Anthropometric
Characteristics of patients with PWS. H. El-Bassyouni. 2674T A further case of ESCOBAR syndrome :
Definition of novel mutation in CHRNG gene. I. Tekin.
2659T A new chromosomal rearrangement resulting in
Axenfeld-Rieger syndrome. L. El Khattabi. 2675S De novo heterozygous deletion involving NFIX in
a Japanese subject with severe intellectual disability,
2660S Fetal Skeletal Dysplasias in a Tertiary Care postnatal growth delay and relative macrocephaly. D.
Centre: Radiology, Pathology, and Molecular Analysis T. Uehara.
of 112 cases. D. Chitayat.
2676M Facial dysmorphism, skeletal abnormalities
2661M Rare case of combination osteogenesis and central nervous system abnormalities in two sibs
imperfecta and genetic skin disease. N. M. Marycheva. born to a consanguineous couple: A new autosomal
recessive condition. L. Chad.
2662T INCONTINENTIA PIGMENTI: A Case Report
Associated With Cleft Lip Palate in a Patient at Smile 2677T Paraspinal neurofibromas in LEOPARD
Operation Foundation, Bogotá - Colombia. M. Montiel. syndrome. E. Conboy.
2663S MuSK - a new target for lethal fetal akinesia 2678S Transcriptional hallmarks of Neurofibromatosis
deformation sequence (FADS). M. Wilbe. type I in whole blood cells. G. Picco.
2664M Diagnosis, planning and educational 2679M Fibrodysplasia ossificans progressiva (FOP): A
evaluation in genetics as interactive material, with case report. I. M. Salazar-Dávalos.
students from a medical odontological university and
multidisciplinary evaluation at a pediatric hospital. 2680T Quantitative phenotype evaluation and
Turner, klinefelter, criduchat, down, Duchenne, management in osteogenesis imperfecta: Egyptian
Mucopolysacharidossis, Muscular dystrophy. R. Experience. M. S. Aglan.
Aparicio.
2681S Rare Cases of Congenital Arthrogryposis
2665T Duplication of approximately 320 kb in the Multiplex without pterygium due to novel CHRNG
chromosomal region 7p15.1 in a girl with Peho-like Mutations. S. Jieun.
phenotype, and in her normal father. M. Giovannucci
Uzielli. 2682M A case of low frequent somatic and/or germline
mosaicism in the ARSE gene detected by deep
2666S An interstitial microdeletion of 4q21 in a girl with sequencing using NGS. T. Kaname.
pituitary insufficiency associated with empty sella,
epilepsy, severe growth impairment, and profound 2683T A further case of Hajdu-Cheney syndrome
intellectual disability. E. Nishi. having a novel mutation in NOTCH2 gene. A.
Kavasoglu.
2667M The phenotypic variability of split hand and split
foot malformation. T. Yokoi. 2684S Expanding the diagnostic spectrum of terminal
transverse limb defects: atypical mutations in ACVR1
2668T Clinical Implementation of Chromosome result in a phenotype with elements of Adams Oliver
Microarray Analysis in Singapore. H. Law. syndrome and Fibrodysplasia Ossificans Progresiva. R.
Mendoza-Londono.
2669S Natural history and clinical management of
patients with ASXL1 mutations and Bohring-Opitz 2685M A novel homozygous mutation in FGFR3
Syndrome, including the first report of Wilms Tumor in causes tall stature, severe lateral tibial deviation,
two patients. B. Russell. scoliosis, hearing impairment, camptodactyly and
arachnodactyly. S. A. Temtamy.
2670M Clinical and epidemiological study of orofacial
clefts. S. Raskin. 2686T Longitudinal observation of clinical
and radiological findings in a patient with
2671T Lateral Meningocele (Lehman) Syndrome: Spondyloepimetaphyseal dysplasia with joint laxity,
A Rare Connective Tissue Disorder Craniofacial leptodactylic type caused by a heterozygous mutation
Dysmorphism. M. Carter. in KIF22. B. Tuysuz.
POSTER SESSIONS 175
2687S Novel mutation in CLTC associated with multiple 2706M Stargardt Disease (Juvenile Macular
malformations and developmental delay. J. DeMari. Degeneration), Clinical Analysis in Patients of the
Colombian Population. L.Ma. Mora.
2688M Two cases of lissencephaly with marked
hydrocephalus caused by TUBA1A mutation. N. 2707T Atrophic skin patches with abnormal elastic
POSTER SESSIONS
Ishihara. fibers, as a presenting sign of MASS phenotype
associated with mutation in the Fibrillin-1 gene. E.
2689T Comprehensive clinical characterization of VCP Reinstein.
associated multisystem proteinopathy. V. E. Kimonis.
2708S Congenital ophthalmoplegia: Dysinnervation,
2690S Identification of a novel variant in TMEM67 gene myasthenia or myopathy? Can genetics have an
responsible for JBTS6 by whole exome sequencing. A. answer? S. Shaaban.
Najmabadi.
2709M Chromosome deletion 11q13.1 involving
2691M Truncating mutation of NFIA causes a brain deletion of the CLCF1 gene in a female with features
malformation and urinary tract defect. Y. Negishi. of Cold-Induced Sweating Syndrome. J. D. Weisfeld-
Adams.
2692T De novo 109 kb microdeletion of MED13L: report
of a new patient with developmental delay, facial 2710T Functional studies of EZH2 histone
abnormalities and hypotonia. E. A. Repnikova. methyltransferase activity in Weaver syndrome. A. S.
A. Cohen.
2693S Novel gene mutation in Schimmelpenning
syndrome (nevus sebaceous syndrome). Y. Kuroda. 2711S Cantu syndrome: Delineation of cardiovascular
abnormalities in six affected individuals evaluated at a
2694M Neurofibromatosis type 1 and Optic Gliomas. E. research clinic. D. Grange.
Parkhurst.
2712M Exome sequencing reveals compound
2695T Genetic heterogeneity in Van der Woude heterozygous mutations in ATP8B1 in a JAG1/NOTCH2
syndrome. P. Kumari. mutation-negative patient with clinically diagnosed
Alagille syndrome. C. M. Grochowski.
2696S Exomic sequencing and molecular analysis of
IRF6 gene in patients with van der woude syndrome 2713T New dominant mutations in SF3B4 encoding an
or familiar history of clefting in patients from smile mRNA spliceosomal protein important in embryonic
bogota colombia. L. Patino. limb patterning underlie Rodriguez acrofacial
dysostosis. M. D. Irving.
2697M WNT signalling and eye development disease
genes. I. Prokudin. 2714S New case of a small AFF2 (FMR2) intragenic
deletion associated to development delay causing a
2698T A novel mutation in two patients with Fabry Fragile X E phenotype. E. Pipiras.
disease. L. Wong-Ley.
2715M Disruption of HDAC8 gene due to partial
2699S Rasopathies and RAS/MAPK pathway disorders: duplication in a female with Cornelia de Lange
Genetic screening of a cohort of 37 Tunisian children. syndrome diagnosed by SNP microarray. S.
N. Abdelmoula. Ramanathan.
2700M Prenatal and natal findings in a patient with 2716T Exome sequencing of individuals with non-
Timothy syndrome type 1. J. R. Corona-Rivera. deletion Smith-Magenis syndrome reveals potentially
causative genic variants. J. J. White.
2701T Antithrombin deficiency in a founder population:
different genetic architectures for types 1 and 2. P. 2717S Cervical myelopathy in a patient with metatropic
Salo. dysplasia caused by a TRPV4 mutation. E. Zapata-
Aldana.
2702S Novel mutation in SCN3A associated with
multiple anomalies and encephalopathy. S. Jhaveri. 2718M CNS Involvement in OFD1 syndrome: a Clinical,
Molecular, and Neuroimaging study. B. Franco.
2703M Evidence of germline mosaicism in
Fibrodysplasia Ossificans Progressiva post discovery 2719T Neurofibromatosis type 1: Familial case and
of the ACVR1 gene. M. B. Alcausin. retroperitoneal neurofibroma. M. A. Aceves-Aceves.
2704T Multi-systemic Involvement in NGLY1-related 2720S Clinical-pathological features in a female infant

disorder Caused by Two Novel Mutations. J. Heeley. with Pfeiffer syndrome type 3 negative for FGFR2
mutation. A.K. Sandoval Talamantes.
2705S Is SMN2 related to severity in Spinal Muscular
Atrophy?: A case report. PM. Hurtado.
176 POSTER SESSIONS
2721M Identification of structural alterations in the 2738S A Case report of disorders of sex development:
CX50 gene in patients with congenital cataracts. A. L. Female patient whit novel mutation in AR gene and
Araujo. 45,X[5]/46,XY[95] karyotype. J. Prieto.
2722T Female with a Complex Phenotype Associated 2739M Complex Genomic Presentation in the NICU. A.
with Variants in Two Neurodegenative Genes Detected Khromykh.
by Whole Exome Sequencing: Diagnostic and
Counseling dilemma. M. Khalifa. 2740T Deep sequencing detects very low-grade
somatic mosaicism in the unaffected mother of
2723S Whole exome sequencing allows the siblings with nemaline myopathy. E. Koshimizu.
identification of a novel large deletion in PRPF31 in a
family with autosomal dominant retinitis pigmentosa. 2741S Identification of RIT1 mutations in patients with
B. Almoguera. RASopathies by clinical whole exome sequencing. P.
Liu.
2724M Whole gene duplication and partial duplication
and triplication of OPHN1. J. G. Pappas. 2742M Splicing mutation in IQSEC2 gene modulating
the phenotype in three siblings with intellectual
2725T A Unique Family with Progressive disability. I. Madrigal.
Pseudorheumatoid Arthropathy of Childhood. A. Neogi.
2743T A novel mutation in gapo syndrome. S. Sestito.
2726S Mutation in the EZH2 gene in a Brazilian family -
Complex clinical findings. D. L. Polla. 2744S Mutation identification in New Zealand
populations: a pilot study in neurodevelopmental
2727M A Novel Mutation, p. (Lys1474*), in a Female disorders. J. Jacobsen.
adds Seizures and Ptosis to Clinical Findings in
MED13L Haploinsufficiency Syndrome. M. M. Ali. 2745M Whole exome sequencing identified a novel
RAB3GAP1 mutation in Turkish patient with Micro
2728T Case report: Acromesomelic dysplasia with Warburg Syndrome. B. Yuceturk.
primary congenital glaucoma, and a distinct pattern of
brachydactyly in a Brazilian patient. W. A. R. Baratela. 2746T Molecular Diagnosis of Congenital Limb Defect
Syndromes by Next Generation Sequencing. G.
2729S An autosomal recessive microcephaly syndrome Mendiratta-Vij.
with primordial growth failure and pigmentation
changes is caused by mutations in the gene ANKLE2. 2747S Mutation spectrum and report of 4 novel
R. Clark. mutations in IDS gene in Indian patients with Hunter
syndrome. G. Verma.
2730M A new craniofacial syndrome caused by
localized mutations in TWIST1. A. L. Fenwick. 2748M The first two AUTS2 mutations on the
nucleotide level causing AUTS2 syndrome. G.
2731T Autosomal Dominant Opitz GBBB Syndrome. Beunders.
PS. Kruszka.
2749T Novel mutations and clinical outcomes of
2732S Clinical and pathological features of an infant copper-histidine therapy in Menkes disease patients.
with concurrence of C syndrome and renal-hepatic- G. Kim.
pancreatic dysplasia. C. Peña-Padilla.
2750S Genetic analysis of an atypical case of
2733M Molecular genetic study of 75 patients with Branchio-Oto-Renal (BOR) Syndrome. R. Birkenhager.
X-linked alpha-thalassemia and mental retardation
(ATR-X) syndrome in Japan. H. Shimbo. 2751M Mutations in ERF gene as a new genetic cause
of craniosynostosis - enabling parents and clinicians
2734T Impact of Plexiform Neurofibromas on Adult to understand why a child is affected. A. Chaudhry.
Patients with Neurofibromatosis type 1. S. Stueber.
2752T COlobomatous Microphthalmia, Macrocephaly,
2735S Early Onset Epileptic Encephalopathy Caused Albinism and Deafness (COMMAD syndrome), a new
by de novo SCN8A Mutations. H. Saitsu. syndrome caused by biallelic mutation of MITF: clinical
characterization and molecular analysis. A. George.
2736M Recessive TBC1D24 mutations cause early-
onset epileptic encephalopathy and sensorineural 2753S A novel missense mutation of ryanodine
hearing loss. K. Writzl. receptor 1 (RYR1) in a Japanese idiopathic hyper CK-
emia family. K. Sano.
2737T Kindler Syndrome: Novel and Recurrent FERMT1
Mutations in Iranian Families. L. Youssefian. 2754M De novo mutation in SOX18 causes a novel
form of Hypotrichosis-Lymphedema-Telangiectasia
with severe vascular defects. F. Wünnemann.
POSTER SESSIONS 177
2755T A novel case of Epidermolysis Bullosa 2772M Phenotypic characterization of Microtia in
with Pyloric Atresia due to homozygous mutation Bogota, Colombia. LP. Barragan Osorio.
of c.600delC in integrin ␤4 gene: Clinical,
Immunohistological and Molecular Diagnosis. S. 2773T Congenital eye malformations and associated
Yilmaz. clinical aspects in two Colombian cities (Bogotá- Cali)
POSTER SESSIONS
between 2011-2013. A. M. Garcia.
2756S Increased Suseptibility to Attention Deficit
Hyperactivity Disorder risk in Marfan Syndrome and 2774S Phenotypic diversity in patients diagnosed with
Other Connective Tissue Disorders. A. Hall. VACTERL association. M. Husain.
2757M A novel mutation in OPN1MW in a brazilian 2775M Brooke-Spiegler syndrome: A rare association
patient with x-linked retinal cone dystrophy type 5. of thichoepithelioma, cylindroma and spiradenoma.
A.CV. Castro. Report of a familial mexican case. N. O. Davalos.
2758T Cerebrofaciothoracic dysplasia: a case report 2776T Disruption of the osteogenic niche signaling
with molecular search for TMCO1 mutation. J. Rivera. in craniosynostosis: primary cilium and prostanoid
pathways crosstalks. W. Lattanzi.
2759S CFTR: p.I1023R is a rare but recurrent disease-
causing mutation found in Chinese patients with Cystic 2777S Genotype-phenotype correlation in 12 patients
Fibrosis. B. H. Y. Chung. with Oculoariculovertebral spectrum. S. Bragagnolo.
2760M Identification of a novel ERCC8 mutation in a 2778M An autosomal recessive PGAP3 novel mutation
10 year old brazilian female with Cockayne Syndrome was identified in patients with severe intellectual
type 1. L.FOB. Chaves. disability, dysmorphism and hyperphosphatasemia
from 2 unrelated families using whole-exome
2761T Identification of a novel RP1L1 mutation in sequencing. V. Adir.
a 38-year-old brazilian female with retinal cone
dystrophy. A.AN. Rocha. 2779T Significant Secondary Findings of Exome
Sequencing in Minor Anomalies with Autism Spectrum
2762S Craniofacial syndromes and genetic variability in disorder . A. Alsadah.
a pediatric hospital in mexico. W. San Martin-Brieke.
2780S Association of UBE3B and GRIN2B gene
2763M Exploring somatic mosaicism in uterovaginal variants with autism spectrum disorders and non-
aplasia. X. Bonilla. syndromic intellectual disability: a case report. A. I.
Sanchez.
2764T An extended Turkish family with FBN1 mutation
and variable clinical phenotype. S. Temel. 2781M Congenital Limb Reduction Defects Associated
with Maternal Thrombophilia. L. Ordal.
2765S Combination Biotin Responsive Encephalopathy
and Hemiplegic Migraine Disorder presenting as 2782T Whole Exome Sequencing of Moyamoya
Autism and episodic limb dysfunction/seizures in a 10 Disease. S. Jang.
year old girl. P. Benke.
2783S Defining a new syndrome of cutis laxa,
2766M New cases of patients with developmental holoprocencephaly and cerebellar agenesis with
delay and incidental findings of chromothripsis. O. overexpression of NRG3. A. Ramalingam.
Caluseriu.
2784M A case of 16p11.2 duplication syndrome and
2767T Pediatric patients clinical evolution with review of the literature. B. J. Ilagan.
postoperative nasal retainer for bilateral lip and cleft
palate (BLCP). J. Marin-Melo. 2785T Maternal UPD(16) with IUGR, transient neonatal
hypoglycemia and cholestasis. H. Lesmana.
2768S Clinical Aspects associated with Syndromic
forms of Orofacial Clefts in Colombia. I. Briceno.
Prenatal, Perinatal and
2769M Distribution of the AKT1 p.Glu17Lys mutation in Reproductive Genetics
a patient with Proteus syndrome. M. j. Lindhurst.
2770T Utility Of Genetic Testing In Patients With 2786S Falling serum estradiol levels prior to human
Suspected Fetal Alcohol Spectrum Disorder. S. S. chorionic gonadotropin on follicle growth and
Jamuar. pregnancy outcomes in in vitro fertilization cycles. X.
Bao.
2771S Is a computer-based Facial Dysmorphology
Novel Analysis ready for the clinic? L. Basel-Vanagaite. 2787S The LH gene mutation and controlled ovarian
hyperstimulation. M. R. Ranjouri.
178 POSTER SESSIONS
2788S Match Study of Sperm Relative Factors on the 2805S Exome chip evaluation of genetic variants for
IVF Outcome. M. Zhang. association with uterine fibroids. M. J. Bray.
2789S Prenatal diagnosis of Apert Syndrome: fetal 2806S Familial Infertility with Sex-limited Autosomal
brain phenotype on imaging. Z. Stark. Recessive Inheritance. H. Huang.
2790S Fibrodysplasia ossificans progressiva: bilateral 2807S Expression of Aurora Kinase C splice variants in
hallux valgus on ultrasound as clue for the first human oocytes and cumulus cells. J. E. Fellmeth.
prenatal diagnosis for this condition -case report. C.
Maftei. 2808S Understanding the genetics of spermatogenic
failure by resequencing the sex chromosomes of
2791S Campomelic dysplasia: Prenatal Ultrasound and infertile men. R. George.
Autopsy Findings in Early Pregnancy. K. Chong.
2809S A rare familial non-Robertsonian translocation
2792S Importance of Fetal Fraction Analysis for cfDNA involving chromosomes 15 and 21 and failure of
Testing in the General Pregnancy Population. E. Wang. reproduction: Is there a correlation? R. Frikha.
2793S Maternal subchromosomal abnormality 2810S Screening Uniparental disomy in recurrent

identified through noninvasive prenatal testing (NIPT). miscarriage couples. YP. Sun.
C. Settler.
2811S The correlation between Y chromosome partial
2794S Thrombophilic Mutations for Recurrent micro-deletions and recurrent pregnancy loss. Z.
Miscarriage in Iranian women with or without Sarrafi.
Thrombophilia. H. Mirtavoos-Mahyari.
2812S Predictive value of sperm count and motility in
2795S Validation of a taxonomy of genetic conditions the assessment of sperm morphology in infertile men.
for pre-conception genetic carrier testing. T. L. S. Daoud.
Kauffman.
2813S Nelf affects GnRH migration and secretion in
2796S Tay-Sachs disease enzyme carrier screening mouse puberty and fertility. EK. Ko.
does not perform well in a pan-ethnic population when
compared to DNA analysis. V. Greger. 2814S High throughput sequencing of short sequence
tags(STS) uncovers novel Y chromosome deletions
2797S Analysis of Y-chromosomal microdeletions in associated with non-obstructive azoospermia. X. Liu.
an azoospermic patient candidate for an assisted
reproductive technique. M. Rongioletti. 2815S Expression of hsa-miR-34b, hsa-miR-181c,
hsa-miR-449b, hsa-miR-517c and hsa-miR-605 in
2798S First Experiences with Non invasive Genetic FFPE testicular tissues of infertile men with different
testing in Switzerland. J. Esslinger. impairments of spermatogenesis. D. Plaseska-
Karanfilska.
2799S Carrier screening for recessive disorders
through exome sequencing. P. Makrythanasis. 2816S Novel mutations in spermatogenesis genes in
azoospermic and severely oligospermic men. K. A.
2800S IL-10 Promoter polymorphism (592C/A) in Fakhro.
women with recurrent miscarriages in Punjabi
population (India). A. Kaur. 2817S HLA-G gene polymorphisms in Mexican women
with recurrent abortions. A. Porras.
2801S Tay-Sachs carrier screening by enzyme and
molecular analyses in the New York City Black 2818S Performance and Limitations of Sequenced-
population. G. A. Lazarin. Based Cell-Free DNA Aneuploidy Screening:
Experience of a Tertiary Referral Center and
2802S Prospective exome sequencing of Importance of Confirmatory Follow-Up Studies. Y. Liu.
consanguineous couples: First steps. H. Meijers-
Heijboer. 2819S Referral of patients for pre-implantation genetic
diagnosis: a survey of clinicians. K. Barlow-Stewart.
2803S A new computational approach for reproductive
genetic risk assessment with over 10-fold greater 2820S Four years later: the state of PGD in Quebec.
sensitivity than carrier screening. A. Silver. Professional perspectives on medical indications and
regulations. F. Duplain-Laferrière.
2804S Genetic Polymorphism Of Hsp-70 and Tp-53
Gene In Indian Preeclamptic Women With Placental 2821S 4-Hour Concurrent Preimplantation Genetic
Vasculopathies. S. KUMAR. Diagnosis of 24-Chromosomes Aneuplody, Single
Gene Disorders, And Micro-Deletion and Duplications.
C. Jalas.
POSTER SESSIONS 179
2822S The frequency, type and classification of 2837S Phocomelia in Thrombocytopenia-absent radius
chromosome errors differs at the pre-implantation (TAR) Syndrome due to compound heterozygosity for
stage from that observed during pregnancy. M. a 1q21.1 microdeletion and a RBM8A hypomorphic
Schweitz. allele. Report of two cases. R. Jobling.
POSTER SESSIONS
2823S A Simple and Streamlined Next-Generation 2838S Unexpected findings using SNP-array for
Sequencing-based approach to Preimplantation prenatal diagnosis: benefit or burden? M. Joosten.
Genetic Screening. M. Umbarger.
2839S NIPT in a Clinical Setting: Patient Decisions and
2824S Preimplantation genetic risk reduction (PGR) - a Pregnancy Outcomes. C. Kenyon.
new concept in the era of microarray CGH and exome
sequencing. G. Altarescu. 2840S Prenatal array comparative genomic
hybridization (aCGH) in fetuses with structural cardiac
2825S Fetal intracerebral hemorrhage and cataract: anomalies in a medium-sized Canadian Prenatal
think COL4A1. E. Colin. Genetics Clinic. J. Lazier.
2826S The Israeli experience of the first 300 2841S Non-invasive Prenatal Diagnosis of Duchenne
Panorama™ tests that use 19,488 single nucleotide Muscular Dystrophy: Comprehensive Genetic
polymorphisms (SNPs) followed by high-throughput Diagnosis from Patient to Fetus. B. Lim.
sequencing for common trisomies risk assessment. H.
N. Baris Feldman. 2842S Safeguarding non-invasive prenatal testing with
spiked sample tracking barcodes. K. Neveling.
2827S First trimester trisomy 18 screening using fetal
epigenetic marker and nuchal translucency. D. E. Lee. 2843S Maternal copy number variants contribute to
the burden of false positive prenatal aneuploidy test
2828S Prenatal array CGH and follow up of fetuses results. M. W. Snyder.
with increased nuchal translucency: results from
VUmc. K. E. Stuurman. 2844S Whole-genome prenatal sequencing and
integrative genomics: Detection of structural variation
2829S Non Invasive Prenatal Testing and Prevention of from invasive and non-invasive approaches. M.
chromosomal and Genetic Disorders. A. Al-Aqeel. Talkowski.
2830S Susceptibility loci for neurodevelopmental 2845S Demonstration of Equivalent Performance

disorders -prenatal genetic counseling and for a Noninvasive Prenatal Test (NIPT) using High
psychological impact. K. E. M. Diderich. Output and Rapid Throughput Modes of a Sequencing
Instrument. R. C. Tim.
2831S Placenta whispers: Discordant noninvasive
prenatal testing (NIPT) results and the role that 2846S False negative NIPT results for trisomy 13,
confined placental mosaicism (CPM) plays. T. Boomer. 18 and 21: risk figures derived from cytogenetic
investigations in chorionic villi. D. Van Opstal.
2832S Transcriptome expression analysis of amniotic
fluid cell free fetal RNA according to gestational weeks 2847S Prenatal detection of fetal aneuploidy on the Ion
in Korean women. Y. Jung. Torrent Proton platform. T. Zwiefelhofer.
2833S Fragile X prenatal studies suggest mothers 2848S Utilization of a SNP array in prenatal diagnosis
with >80 repeats transmit the normal allele in 55% of of Ellis van Creveld syndrome in a consanguineous
pregnancies. S. L. Nolin. couple; a case report. B. Suskin.
2834S Differences of transcriptional profiling analyses 2849S Uniparental origin GWAS of human gestational
between cell free mRNA and mRNA originated from age implicates genes involved in angiogenesis. J.
amniocytes in amniotic fluid using GeneChip® Bacelis.
PrimeView™ Human Gene Expression Array. D. H. Cha.
2850S Long non-coding RNAs associated with
2835S Methods for Isolation and Enrichment of ubiquitin pathway involved in preterm premature
circulating cell-free fetal DNA (ccff DNA) from maternal rupture of membrane. N. Zhong.
plasma, for Non-Invasive Prenatal Tests (NIPT), such
as the MaterniT21™ PLUS Laboratory Developed Test. 2851S Association of candidate gene single nucleotide
G. DeSantis. polymorphisms with the clinical subtypes of preterm
birth (PTB). L. G. Gimenez.
2836S Prenatal diagnosis of mosaic isochromosome
20q detected in amniocentesis. S. Ito. 2852S TLR1 SNP associated with preterm birth in a
Wisconsin birth cohort. D. Pillers.
180 POSTER SESSIONS
2853S Whole Exome Sequencing of Hispanic Infants 2867M Knock-in human FGFR3 achondroplasia
Reveal Novel Pathways Implicated In Spontaneous mutation as a mouse model for human skeletal
Preterm Birth. M. K. Veerapen. dysplasia and potential therapy evaluation. Y. Lee.
2854S Noninvasive detection of a balanced fetal 2868T Retinal vascular lesions associated with
translocation from maternal plasma. S. Kim. mutations in Col4a1. M. Alavi.
2855S Low folate levels and MTHFR polymorphism 2869S Inflammatory demyelination in a duplication
C677T in case-mothers of children with neural tube mouse model of Pelizaeus-Merzbacher Disease. G. M.
defects and control-mothers of Pakistani origin. A Hobson.
Case- control study. N. Nauman.
2870M Poc1a, a component of the centriole and cilia,
2856S Fetal demise: diagnosis and management. Initial causes skeletal dysplasia and male infertility: a mouse
experience in the state of Indiana - 129 patients. M. model. K. A. Geister.
Tucker.
2871T Using electroporation as a model of
2857S Molecular and histopathological findings in degeneration/regeneration to investigate the
placentas of newborns with Down Syndrome. R. regenerative potential in neuromuscular disorders
García-Robles. (NMD). M. Vainzof.
2858S Rising Whole Body Counts of 137Cs (WBC) 2872S Definitive Implication of Innate Immunity in the
in Pregnant Women and Persistent Elevated Rates Pathogenesis of Scleroderma. E. Gerber.
of Neural Tube Defects (NTD) and Microcephaly/
Microphthalmia (M/M) in a Chornobyl Impacted Region 2873M Human-Mouse:Disease Connection, new
of Rivne (R) Province in Ukraine. W. Wertelecki. pathway to discovery. J. T. Eppig.
2859S Assessing the causal relationship between 2874T Social and maternal behaviours are affected by
maternal height and birth outcomes: A Mendelian a mutation in Gtf2ird2 in Williams-Beuren Syndrome
randomization analysis. G. Zhang. mouse model system. N. Sharmin.
2860S Maternal and placental genome-wide and 2875S Canine developmental disorder maps to the
candidate gene association studies of placental critical region of human 22q11.2 deletion syndrome. M.
abruption. M. Denis. Hytönen.
2861S Comprehensive genotype phenotype 2876M A transgenic zebrafish model for

correlations reveal NLRP7 role in regulating the facioscapulohumeral dystrophy. A. Lek.
balance between embryonic tissue differentiation and
trophoblastic proliferation. NMP. Nguyen. 2877T Role of palmitoylation in alopecia and skin
abnormality in genetic deficiency of Zdhhc13 in Mice.
2862S Kidney disease genes linked to Hyperemesis K. Liu.
Gravidarum. M. Schoenberg-Fejzo.
2878S Mouse Models: Effective Therapeutics
2863S Interbirth interval varies according to HLA Development and Comparative Genomics. C. L. Smith.
inheritance of first and second born siblings. C. A.
Gentil. 2879M Rapid Approaches in Functional Validation of
Candidate Disease Genes Identified from Structural
2864S The genetic basis of preeclampsia in a high Rearrangements and Next-Generation Sequencing. R.
altitude indigenous Andean population. C. R. Gignoux. Greenlees.
2865S Molecular and pathological abnormalities 2880T Natural genetic modifiers of autosomal
in placentas of pregnancies complicated by dominant retinitis pigmentosa and ER stress. C. Y.
preeclampsia. P. A. Ayala-Ramírez. Chow.
2881S AIPL1 mutation in Persian cats defines a new

Molecular Basis of Mendelian model for Leber’s Congential Amaurosis. B. Gandolfi.
Disorders
2882M Genome-wide linkage analysis in conjunction
with whole exome sequencing for identification of
2866S A ‘conditional-ON’ mouse model of deafness-causing genes in multi-generational families.
Fibrosyplasia Ossificans Progressiva (FOP). A. N. M. Grati.
Economides.
2883T ILDR1: Novel mutation and a rare cause of
congenital deafness in the Saudi Arabian population.
K. Ramzan.
POSTER SESSIONS 181
2884S Homozygosity mapping of families with 2900M GeneSEARCH - Diagnostic testing and a tool
autosomal recessive intellectual disability and for research in the Iranian Population. E. G. Ozkan.
examination of WWOX, GFRA3, and PTBP1 genes. A.
Alkhateeb. 2901T HIVEP2: A New Causative Gene for Intellectual
Disability? A. M. Zink.
POSTER SESSIONS
2885M Santos syndrome is caused by homozygous
mutation in WNT7A. L. U. Alves. 2902S DUX4 induces FRG2 expression by directly
activating its promoter in facioscapulohumeral
2886T Mutation Screening in PRPF31 in an Autosomal muscular dystrophy. P. E. Thijssen.
Dominant Retinitis Pigmentosa (ADRP) Family with
Incomplete Penetrance. S. Bhatia. 2903M Expansion of the spectrum of nuclear
envelopathies: mutation in TOR1AIP1 associated with
2887S Molecular Genetic Analysis in an Autosomal muscular dystrophy. P. Dincer.
Recessive Retinitis Pigmentosa Family of Indian origin.
S. Goyal. 2904T Association of IFRD1 gene polymorphisms with
nasal polyposis in Cystic Fibrosis. A. Baldan.
2888M Achromatopsia Genetic Determinants in
Palestinian Families. H. Shahin. 2905S A missense mutation in hexokinase 1 (HK1)
causes autosomal dominant retinitis pigmentosa
2889T Mutations in ALDH1A3, FOXE3 and VSX2 cause (adRP). S. P. Daiger.
ocular abnormalities in consanguineous Pakistani
families. E. Ullah. 2906M A novel disease-causing gene for Pelizaeus-
Merzbacher disease. M. Nafisinia.
2890S Two novel mutations in ABCG5 and ABCG8
genes in a Mexican family with sitosterolemia. A. 2907T Identification of a homozygous CLN5 mutation
Colima. p.S312N in a family with adult-onset cerebellar ataxia.
A. Brusco.
2891M Identification of hemizygous loss-of-function
mutations in OFD1 in two unrelated male patients 2908S Search for missing regulatory region mutations
with a clinical phenotype of primary ciliary dyskinesia at the DFNB1 locus in GJB2 heterozygotes with
(PCD). W. B. Hannah. deafness. J. Foster.
2892T A Novel Homozygous LRP5 Splice-site Deletion 2909M Identifying causative gene variants for hearing
Mutation Causes Syndromic Autosomal Recessive loss using a target enrichment/next generation
Familial Exudative Vitreoretinopathy. V. Chini. strategy. D. Tekin.
2893S A Mutation in SORBS2 Actin filament Adapter, 2910T Application of whole exome sequencing for
Cell Adhesion, Migration and Intracellular Signaling identification of deafness causative genes in small
Protein Causes Autosomal Recessive Hand and Foot families. D. Yan.
Malformation Syndrome. H. El-Shanti.
2911S Genetic analysis of Rubinstein-Taybi Syndrome.
2894M A Mutation in MYO1A Causes Autosomal S. de Boer.
Recessive Autism Spectrum Disease. M. Kambouris.
2912M The utility of clinical exome sequencing in
2895T Linkage Analysis and Gene Identification in identifying the genetic origins of eight unclassified
Consanguineous Pakistani Families with Autosomal developmental disorders in unique Canadian
Recessive Retinal Dystrophy. M. Ansar. populations. S. M. K. Farhan.
2896S Genetic linkage analysis of familial PFAPA in 2913T Protein-altering rare variants in candidate genes
Finland. E. Einarsdottir. in patients with Biliary Atresia. R. Rajagopalan.
2897M Haploinsufficiency of a novel gene on 3p26.1, 2914S Whole genome sequencing of mummy DNA
SMDD1, cause autosomal-dominant dentin dysplasia shows significant association with human disease
type I. F. Xiong. phenotype. S. Bhattacharya.
2898T Mutations in CCNO identified in patients with 2915M Excess of de novo variants in genes involved in
a clinical phenotype consistent with primary ciliary chromatin remodeling and regulation of transcription
dyskinesia (PCD) and defective mucociliary clearance in patients with marfanoid habitus and intellectual
reflecting reduced motile cilia generation. M. A. disability. L. Faivre.
Zariwala.
2916T Exome analysis of 116 patients supposed to
2899S Identification of New Genes and Pathways for be autosomal recessive hereditary spastic paraplegia
Rare Infantile Forms of Spinal Muscular Atrophy and established molecular diagnoses of 49 patients with
Neuromuscular Disorders. J. M. Hunter. broad genetic heterogeneities. H. Ishiura.
182 POSTER SESSIONS
2917S New candidate genes associated with 2934T Defective core protein IFT81 as a rare cause of a
autosomal dominant partial epilepsy with auditory ciliopathy with neurological involvement. I. Perrault.
features identified by whole exome sequencing. F. R.
Torres. 2935S Genetic study of patients with Joubert
Syndrome and related disorders. T. Vilboux.
2918M Hoyeraal Hreidarsson syndrome, a severe
variant of dyskeratosis congenita, caused by biallelic 2936M The Role of Rare Variants in Genetic
mutations in TPP1. B. J. Ballew. Predisposition to Statin-Induced Myopathy. V.
Stranecky.
2919T Targeted next generation sequencing in DNA
diagnostics for familial cancer. A. H. van der Hout. 2937T Targeted resequencing identifies PTCH1 as a
major contributor to ocular developmental anomalies.
2920S Mutation screening of retinal dystrophy patients N. Chassaing.
by targeted capture from tagged pooled DNAs and
next generation sequencing. M. E. Elasrag. 2938S Deciphering the endothelin pathway in
auriculocondylar syndrome and isolated question mark
2921M Homozygosity mapping and exome sequencing ears. C. Gordon.
of a Faroese family with albinism. K. Grønskov.
2939M Mutations in COG2 Encoding a Subunit of
2922T Identifying novel genes that cause Rett the Conserved Oligomeric Golgi Complex Cause a
syndrome by trio-based exome sequencing of MECP2- Congenital Disorder of Glycosylation. H. Kodera.
negative patients. S. A. Sajan.
2940T De novo SOX11 mutations cause Coffin-Siris
2923S Baratela Scott Syndrome is a recessive skeletal syndrome. N. Matsumoto.
dysplasia syndrome caused by disruption of the XYLT1
gene. K. Sol-Church. 2941S Copy Number Variations detection for
Congenital Absence of bilateral ACL and PCL
2924M Whole exome sequencing a consanguineous ligaments. Y. Liu.
family in search for a novel genetic cause of Charcot-
Marie-Tooth (CMT) disease. S. Tey. 2942M New standards in OMIM for gene-phenotype
relationships in the era of whole genome/exome
2925T Deciphering the genetic basis of idiopathic short sequencing and a new way to follow disease gene
stature. C. T. Thiel. discovery through MIMmatch. J. S. Amberger.
2926S Coffin-Siris syndrome is a BAF complex 2943T Using an Augmented Exome to Improve
disorder. Y. Tsurusaki. Diagnostic Yield: Case Studies in Retinal Disorders. S.
Garcia.
2927M Whole-Exome Sequencing and Linkage
Analysis Reveal a Novel Genetic Locus for Autosomal 2944S Identifying genetic determinants of poor
Dominant Pattern Dystrophy of the Retinal Pigment cochlear implantation outcomes using massively
Epithelium. A. Vincent. parallel DNA sequencing. Y. H. Lin.
2928T Cardiomyopathy Pathology of a GSDIIIa Patient 2945M Exome sequencing reveals TPO mutations in
Revealed by Whole Genome Sequencing. Q. Zhao. Pseudo-Pendred syndrome. A. Denomme-Pichon.
2929S PNPLA6 mutations in Laurence-Moon 2946T Alleles of the reported deafness genes are major
Syndrome (LMS) illustrate its distinct genetic etiology contributors to the etiology of moderate to severe
from Bardet-Biedl syndrome (BBS) and suggest hearing loss in Pakistani population. A. Imtiaz.
its classification as part of a newly described
neurodegenerative spectrum. H. Dollfus. 2947S Mutations in a metabolic kinase gene lead to
autosomal dominant retinitis pigmentosa. F. Wang.
2930M Microdeletion in the PITX2 Upstream Region in
a Family with Axenfeld-Rieger Syndrome. M. Walter. 2948M Expansion of the fibrosing poikiloderma
phenotype caused by FAM111B to include cytopenia
2931T Mutations in DOCK7 in individuals with epileptic and pancreatic dysfunction. A. Seo.
encephalopathy and cortical blindness. F. F. Hamdan.
2949T An atypical Bloom syndrome identified
2932S Nonsense mutation in coiled coil domain by exome sequencing in a ten year old girl with
containing 151 gene (CCDC151) causes Primary ciliary microcephaly. C. Dupont.
dyskinesia. M. Erzurumluoglu.
2950S Achieving genetic diagnosis in deaf patients
2933M Combined exome and targeted gene NGS gene with non-confirmative GJB2 genotypes using
panel identifies mutations in CCDC151 as a cause of massively parallel DNA sequencing. C. J. Hsu.
Primary Ciliary Dyskinesia. A. Onoufriadis.
POSTER SESSIONS 183
2951M Megacystis microcolon intestinal 2966M Recurrent mutations cause Ablepharon-
hypoperistalsis syndrome and related phenotypes - macrostomia syndrome and Barber-Say syndrome. T.
five new cases with two supporting the autosomal Davis.
recessive inheritance hypothesis. C. A. Moreno.
2967T Mutations in MAB21L2 result in ocular
POSTER SESSIONS
2952T Prevalence of EIF2AK4 gene mutations in coloboma, microcornea, and cataracts. B. Deml.
patients with a clinical diagnosis of pulmonary arterial
hypertension. K. L. Sumner. 2968S Homozygous LRRC10 Mutation in Sporadic
Pediatric Dilated Cardiomyopathy. P. A. Long.
2953S Comprehensive mutation analysis using
Ion PGM in 95 patients with neonatal intrahepatic 2969M Mutation in ANKFY1 as a Cause of Charcot-
cholestasis. T. Togawa. Marie-Tooth Neuropathy. M. Park.
2954M An update on the CMTX3 locus: using whole 2970T Characterization of mutation negative
genome sequencing to search for the elusive mutation. autosomal dominant polycystic kidney disease families
M. H. Brewer. using whole exome sequencing. B. M. Paul.
2955T Pituitary hormone deficiency: hunt for novel 2971S Whole Exome Sequencing to Uncover
causative genes and genetic contributions to variable Causative Genes in Families with Inherited Autonomic
penetrance and expressivity. Q. Fang. Dysfunction. J. E. Posey.
2956S A Combined Exome sequencing and RNA-Seq 2972M Exome sequencing identifies a recurrent de
Strategy Reveals a Novel Mutation in DOCK8 that novo mutation in ZSWIM6 that causes Acromelic
Results in Immunodeficiency and Radiosensitivity. S. Frontonasal Dysostosis. J. Smith.
Khan.
2973T The Gene Discovery Core: four years of
2957M Preliminary analysis of 14 Brazilian patients experience in determining the genetic basis of orphan
with Thyroid Dysgenesis using Whole Exome diseases. M. C. Towne.
Sequencing. M. M. L. Kizys.
2974S Exome sequencing identifies the cause of a
2958T Whole-exome sequencing as a diagnostic tool novel multiple pterygium syndrome and expands the
reveals POC1A mutation in Primordial Dwarfism. A. spectrum of phenotypes caused by variants in MYH3.
Koparir. A. E. Beck.
2959S Mutation of CLPB, a human homologue of 2975M Exome sequencing to identify the genetic bases
bacterial ClpB /yeast Hsp104 mitochondrial molecular for lysosomal storage diseases of unknown etiology.
chaperone, causes a novel form of autosomal N. Wang.
recessive 3-methylglutaconic aciduria. C. Saunders.
2976T Clinically significant copy number variants
2960M Leveraging Population Structure to Improve (CNVs) in a cohort of retinal dystrophy probands
Causal Variant Identification in Exome Sequencing inferred from whole exome sequence data. G. Arno.
Studies of Mendelian Diseases. R. Brown.
2977S Pathogenic mutation of coagulation factor X
2961T Truncating Mutation in CIB2 causes DFNB48 deficiency may prevent atypical hemolytic uremic
and not USH1J. K. T. Booth. syndrome. F. Bu.
2962S A Perturbed Transcriptome Underlies Cornelia 2978M Genetic testing with targeted exon enrichment
de Lange Syndrome and Related Phenotypes. B. Yuan. and massively parallel sequencing for 272 Chinese
cases with hearing loss. J. Cheng.
2963M Deep re-sequencing of CFTR bearing the
common F508del mutation reveals a rare variant 2979T Prospecting genetic disorders in a highly inbred
associating with variation in lung infection. B. Vecchio- region of Brazil: two novel genes for AR intellectual
Pagán. deficiency. T. Figueiredo.
2964T Whole Exome Sequencing in Autosomal 2980S Molecular Basis of Nieman-Pick A-B and
Recessive Non-syndromic Deafness: 4 years` Neimann-Pick C Diseases in the Aegean Region of
experience. G. Bademci. Turkey: Identification of Three Novel Mutations in
SMPD1 Gene. H. Onay.
2965S Resolving clinical diagnoses for syndromic
cleft lip and palate phenotypes using whole-exome 2981M Frataxin, a Fredrich’s ataxia protein is defective
sequencing. A. Collins. in mitochondrial processing peptidase-alpha (PMPCA)
mutations. P. B. Agrawal.
184 POSTER SESSIONS
2982T Genetic diagnosis of mitochondrial disorders in 2998S Erythroid Krüppel-like factor mutations are
Finland by whole-exome sequencing. C. J. Carroll. relatively more common in a thalassemia endemic
region and ameliorate the clinical and hematological
2983S A comprehensive genomic analysis for severity of ␤-thalassemia. X. Xu.
mitochondrial respiratory chain disorder. M. Kohda.
2999M Homozygous loss of DIAPH1 causes a rare,
2984M Diagnosing mitochondrial disease: Is there an complex syndrome with epilepsy, blindness, immune
added advantage of whole-exome sequencing? S. J. deficiency and lymphoma. M. Kaustio.
Mosca.
3000T Copy number variations in a cohort of
2985T Realignment of whole-genome and exome Brazilian sickle cell anemia patients with and without
sequencing reads supports novel potassium channel cerebrovascular accident. P.RS. Cruz.
(Kir2.x) isoforms that were formerly identified by
Sanger sequencing as polymorphisms of a single 3001S HLA confer the risk of familial Mediterranean
channel gene in thyrotoxic periodic paralysis locus. M. fever in Japanese population. M. Yasunami.
R. Dias da Silva.
3002M A pathogenic haplotypes of the g6pd gene
2986S Novel SLC29A3 mutation causing H Syndrome in correlating with enzyme activity. D. Nantakomol.
an Indian Adolescent. N. Kamath.
3003T Defective Dimerization of STAT3 causes
2987M An intergenic 9.4 kb microduplication at Autosomal Dominant Hyper-IgE Syndrome. M. Dasouki.
chromosome 5p13 as a cause of brachydactyly type
A1. L. Racacho. 3004S WES detects disease causing SNVs and CNVs in
Primary immunodeficiencies. H. S. Sorte.
2988T Novel molecular insights into severe congenital
microcephaly through targeted next generation 3005M PGM3 Mutations Cause a Congenital Disorder
sequencing. G. Mirzaa. of Glycosylation with Severe Immunodeficiency and
Skeletal Dysplasia. A. Stray-Pedersen.
2989S Molecular genetic characterization of an
autosomal recessive Familial Essential Tremor. D. 3006T IPEX and IPEX-like syndromes: FOXP3 and
Monies. FOXP3-pathway related genes. M. Vignoli.
2990M Denovo mutations in a novel disease causing 3007S Aicardi-Goutières syndrome is caused by IFIH1
gene cause Temple-Baraitser syndrome and non- mutations. H. Oda.
syndromic epilepsy. C. Simons.
3008M The comprehensive genetic analysis of
2991T High diagnostic success rate in a cohort of congenital anomalies of kidney and urinary tract
unresolved leukoencephalopathy patients investigated (CAKUT) in Japan. N. Morisada.
by whole exome sequencing. R. J. Taft.
3009T Deciphering Molecular Etiology of the Mayer-
2992S Causal mutations and unique variants identified Rokitansky-Küster-Hauser (MRKH) Syndrome. A. B.
by exome analysis of Pakistani pedigrees with retinal Ekici.
degeneration. R. Ayyagari.
3010S Utility of whole exome sequencing in diagnosis
2993M Identifying the underlying cause of Retinal of individuals with congenital anomalies of kidney and
Degeneration by Exome Sequencing in seven unrelated urinary tract. M. Bekheirnia.
pedigrees. P. Biswas.
3011M Focal segmental glomerulosclerosis exomes
2994T Trio-based exome sequencing approach to reveal candidate variants highly enriched in cell
identify candidate genes for phenotypic variability of movement and cell adhesion related genes. J. Suh.
Incontinentia pigmenti. F. Fusco.
3012T The role of MAZ in the regulation of
2995S NEMO Deficiency: Mutation in 5’ leader genitourinary development via modulation of WNT
sequence of IKBKG causes adult onset mycobacterial signaling. M. Haller.
skin disease. A. P. Hsu.
3013S Functional Characterization of Renin Variants
2996M Inherited UNC13D or PRF1 Mutations in Identified in African Americans in Exome Sequencing
patients with PTLD and severe HHV viremia after Project. S. Kmoch.
HSCT. H. Liu.
3014M Detection of genes causing polycystic kidney in
2997T Exome sequencing of a family with Wiskot- Saudi Arabian Fetuses and Neonates. M. H. Al-Hamed.
Aldrich syndrome reveals a mutation in the WIPF1
gene. A. Hawwari. 3015T Loss of Zeb2 Causes Glomerulocystic Kidney
Disease in Mice. H. Milo Rasouly.
POSTER SESSIONS 185
3016S Whole exome sequencing identifies a 3031S Disruption of the basal body protein POC1B
homozygous mutation in SOHLH1 in two sisters with results in autosomal recessive cone-rod dystrophy. S.
non-syndromic hypergonadotropic hypogonadism. Y. Roosing.
Bayram.
3032M TOPORS, a centrosomal and ciliary protein
POSTER SESSIONS
3017M IMAGe syndrome mutations in the PCNA- implicated in Retinitis Pigmentosa, associates with the
binding site of CDKN1C cause in increased protein actin cytoskeleton. A. Z. Shah.
stability and inhibition of the cell cycle. V. A. Arboleda.
3033T Loss of the ribosome-associated factor Sbds
3018T Hypopituitarism caused by dysregulation of in murine models of Shwachman-Diamond syndrome
pituitary progenitors and epithelial to mesenchymal leads to aberrant polysome profiles. H. Liu.
transition. M.Ines. Perez Millan.
3034S Examining the Molecular Mechanisms
3019S Cell Specific Biochemical Changes in Snyder Underlying SRCAP Mutations in Floating-Harbor
Robinson Syndrome. J. Albert. Syndrome. R. L. Hood.
3020M Genetic and enzymatic characterization of 3035M Functional characterization and

the anti-oxidant enzyme GPx1 in sickle cell disease pharmacological correction of eleven novel mutations
patients. M. Beaudoin. identified in Indian CF population. R. Prasad.
3021T Structural, molecular and cellular impact of 3036T Understanding the role of EYS by identification
the Ogden syndrome Ser37Pro mutant N-terminal and characterisation of its retinal interacting partners.
acetyltransferase Naa10. G. J. Lyon. P. M. Kruczek.
3022S Analyzing KMT2D/MLL2 missense mutations as 3037S A pathologic genomic rearrangement in

causative in Kabuki syndrome and testing U1snRNAs- Incontinentia Pigmenti locus reveals a transcriptional
based approaches to revert KMT2D/MLL2 splicing regulation of NEMO gene by p63 family proteins. M. I.
defects. L. Micale. Conte.
3023M Infantile myofibromatosis: Gene discovery 3038M Chinese family segregating isolated diffuse
leads to novel treatment paradigm based on PDGFRB oesophageal leiomyomatosis: a new COL4A5/COL4A6
gain-of-function mutations. K. Oishi. deletion and a case of gonosomal mosaicism. K. L.
Wong.
3024T Biochemistry of UBA1 Mutations that Cause
Infantile X-Linked Spinal Muscular Atrophy. C. D. Balak. 3039T Atypical Microvillous Inclusion Disease (MVID)
in a newborn with intractable diarrhea: clinical,
3025S Comparative proteomic analysis of different pathological and molecular characterization. A.
fragile X syndrome cell lines. S. Lanni. Iglesias.
3026M Utilization of Cas9/CRISPR to understand the 3040S Mutations in ACTG2 are associated with
genetic disease mechanism: dissecting the functions sporadic congenital chronic intestinal pseudo-
of NIPBL in the pathogenesis of Cornelia de Lange obstruction and megacystis-microcolon-intestinal
syndrome. K. Izumi. hypoperistalsis syndrome. M. Yourshaw.
3027T Incontinetia pigmenti: identification of IKBKG/ 3041M Functional analysis of genes carrying de novo
NEMO mutation revealing a novel mechanism of cell mutations in 24 sporadic Hirschsprung cases revealed
death acting as major triggering of the disease. A. 7 unexpected genes relevant to ENS development. R.
Pescatore. Hofstra.
3028S The cblX gene, HCFC1, regulates craniofacial 3042T Identification of a novel gene causing a
development by modulating MMACHC expression. T. recognizable and distinct autosomal recessive
H. Shaikh. cerebellar ataxia and intellectual disability syndrome,
associated with early onset cerebellar atrophy and
3029M Disruption of FMR1, RAI1, MBD5, and TCF4 relative macrocephaly. P. Stanier.
results in abnormal expression of circadian rhythm
genes and sleep disturbances in fragile X, Smith- 3043S The role of SRSF10 in SMN1/2 splicing. S.
Magenis, 2q23.1 deletion, and Pitt-Hopkins syndromes. Brøner.
S. V. Mullegama.
3044M A functional role for BDNF in Familial
3030T ITM2B implicated in familial dementias and Dysautonomia. M. Nilbratt.
retinal dystrophy associates with ciliary-centrosomal
protein TOPORS. B. Czub. 3045T Mutations in LAMA1 cause cerebellar dysplasia
and cysts with and without retinal dystrophy in Poretti-
Boltshauser syndrome. K. A. Aldinger.
186 POSTER SESSIONS
3046S Whole genome sequencing of a balanced 3061S Processing of double-R-loops

translocation reveals new gene candidates for (RNA:DNA hybrids) in (CAG)•(CTG) and C9orf72
epilepsy, learning difficulties and risk of acute myeloid (GGGGCC)•(GGCCCC) repeats causes instability. M. H.
leukaemia. S.-K. Chung. M. Schmidt.
3047M The complexity of KDM5C transcription: 3062M Glutathione-S-transferase gene polymorphisms

an XLID gene under the control of disease-related (GSTM1,GSTT1, GSTM3 &GSTP1) and and its
transcription factors. A. Padula. correlation with GST enzyme activity in DM1. A. Kumar.
3048T Genetics of Joubert syndrome in the French 3063T The whole genome sequences from a
Canadian population. M. Srour. Rottweiler and Black Russian Terrier with overlapping
neurological syndromes contain the same RAB3GAP1
3049S Hereditary diffuse leukoencephalopathy with frame shift mutation. T. Mhlanga-Mutangadura.
spheroids (HDLS): Novel CSF1R mutations and locus
heterogeneity. C. Toro. 3064S The missing factors influencing spinal and
bulbar muscular atrophy: evaluation of genetic
3050M A variant in DCTN2 causes intermediate polymorphisms. C. Bertolin.
Charcot-Marie-Tooth disease. A new Charcot-Marie-
Tooth disease gene? G. J. Braathen. 3065M Abnormalities in neuronal architecture and
synaptic activity impairment in mice heterozygous for
3051T A missense mutation in the PISA domain different deletions of the Williams-Beuren syndrome
of HsSAS-6 causes autosomal recessive primary locus. C. Borralleras.
microcephaly in a large consanguineous Pakistani
family. V. M. Rupp. 3066T A Homozygous PIGN Missense Mutation in Soft
Coated Wheaten Terriers with Paroxysmal Dyskinesia.
3052S Consulsive seizures and SUDEP in a mouse A. Kolicheski.
model of SCN8A epileptic encephalopathy. J. L.
Wagnon. 3067S Congenital hypotonia: Two rare diseases in one
family. T. Falik-Zaccai.
3053M FAR1 loss of function impairs the reduction of
fatty acids in individuals with intellectual disability. R. 3068M Identification of a novel autophagy-related gene
Abou Jamra. mutation in a canine storage disease. K. Kyöstilä.
3054T Ten years apart: the second family with non- 3069T Mutations in the neurofilament heavy chain gene
syndromic autosomal recessive intellectual disability (NEFH) trigger pathological aggregates in Charcot-
due to a CRBN gene mutation. B. Popp. Marie-Tooth disease. A. Rebelo.
3055S De novo mutations in NALCN cause a new 3070S Mutations in the tricarboxylic acid cycle
syndrome with congenital contractures, hypotonia, and enzyme, aconitase 2, cause either isolated or
early death. K. M. Shively. syndromic optic neuropathy with encephalopathy and
cerebellar atrophy. JM. Rozet.
3056M Application of array painting and next
generation mate-pair sequencing (MPS) for improved 3071M UBE3B Deficiency in Kaufman
mapping of chromosomal breakpoints in a familial oculocerebrofacial syndrome. R. Yilmaz.
translocation segregating with a particular phenotype.
P. M. Kroisel. 3072T Whole genome sequences from two individual
dogs with neuronal ceroid lipofuscinosis contain
3057T Deletion of the 5’ exons of the TCF4 gene in novel truncating mutations: one in CLN8 and the other
patients without classical Pitt-Hopkins syndrome. S. MFSD8. J. Guo.
Yu.
3073S Mice with combined deficiencies of
3058S A genetic dosage study of DYT1 Dystonia -Hexosaminidase A and Sialidase Neu3 mimic the
using an inducible knock-in E-Tor1a mouse model. C. fundamental aspects of the neurological abnormalities
Weisheit. of Tay-Sachs disease due to accumulation of
ganglioside: New hope for Tay-Sachs patients and
3059M Whole exome sequencing identified the families. V. Seyrantepe.
first STRADA point mutation in a patient with
polyhydramnios, megalencephaly, and symptomatic 3074M Mutation of NUP50 in a consanguineous family
epilepsy syndrome (PMSE). W. Bi. with intellectual disability. JM. Capo-chichi.
3060T The expanding role for chromatin remodeling in 3075T Phenotype of 21 novel autosomal recessive
epilepsy: Gene discovery to pathogenic mechanisms. cognitive disorders. K. Kahrizi.
G. L. Carvill.
POSTER SESSIONS 187
3093T Digital gene expression differences in the OVT73
3076S An emerging role for the Rho-GEF Collybistin
ovine model of Huntington’s Disease. S. J. Reid.
in neuropathological mTORC1-mediated protein
translation. A. Sertie.
3094S De Novo mutations in TEAD1 and OCEL1 in
non-X linked Aicardi Syndrome. I. Schrauwen.
POSTER SESSIONS
3077M De novo dominant mutations in the kinesin
motor protein KIF1A cause a severe static or
3095M Absence of ER cation channel TMEM38B/
progressive encephalopathy with cerebral and
TRIC-B causes recessive osteogenesis imperfecta
cerebellar atrophy. S. Esmaeeli Nieh.
by dysregulation of collagen post-translational
modification. W. A. Cabral.
3078T Clinical and molecular characterization of
progressive encephalopathies in children. J. R. Helle.
3096T Exome sequencing identifies locus
heterogeneity in multiple epiphyseal dysplasia. K.
3079S Low levels of CHIP in fibroblasts derived from
Balasubramanian.
patients with autosomal recessive cerebellar ataxia
caused by mutations in STUB1. S. Johansson.
3097S Genetic evaluation of inherited arthropathies.
G.SL. Bhavani.
3080M Truncating mutations in the negative feed-back
regulator of interferon 1 signalling, USP18 gene causes
3098M XYLT1 mutations impact on cellular
pseudo-TORCH syndrome. G. M. S. Mancini.
proteoglycan biosynthesis leading to Desbuquois
dysplasia type 2. C. Huber.
3081T The Expanding Phenotype of TRPV4 Related
Neuropathies With Notable Intrafamilial Variability. L.
3099T LOX, among the LOX family proteins, plays a key
Medne.
role in osteoblast differentiation. Y. Kim.
3082S WWOX and severe early onset epileptic
3100S Identification of mutations in patients with
encephalopathies: description of two additional
osteogenesis imperfecta from Russia. D. D. Nadyrshina.
patients and new clinical insights. C. Philippe.
3101M Two Distinct Mutations in IFITM5 Causing

3083M Mechanisms leading to brain malformations in
Different Forms of Osteogenesis Imperfecta Using
tubulinopathies. M. I. Rees.
Reciprocal Mechanisms. A. Reich.
3084T A novel pathogenic mechanism in Hereditary
3102T Identification and Genetic Characterization of
Spastic Paraplegia. R. Schüle.
a Mysterious Crippling Disorder of Arai Village, J&K,
India. S. Sharma.
3085S DNM3; a genetic modifier of LRRK2
parkinsonism. J. Trinh.
3103S Novel mutation in RUNX2/CBF-alpha-1 with
alanine tract expansion from Japanese cleidocranial
3086M Novel de novo sequence variation in HNRNPU
dysplasia patient. A. Shibata.
gene is associated with generalized epilepsy
responsive to ketogenic diet. R. Veith.
3104M Rapid Turnover Skeletal Disease Caused By A
Multiple-Exon Duplication of TNFRSF11A Encoding
3087T Modifiers of age at onset in spinocerebellar
RANK. S. Mumm.
ataxia type 2: a preliminary study in a Brazilian
population. F.dosS. Pereira.
3105T Asynchronous remodelling is a driver of failed
regeneration in Duchenne Muscular Dystrophy. S.
3088S Defining the presence of GTF2IRD1 in
Dadgar.
epigenetic complexes as a means to understand
features of Williams-Beuren syndrome. P. Carmona-
3106S Novel mutations in GNAI3 associated with
Mora.
Auriculocondylar Syndrome strengthen a common
dominant negative effect. V. L. R. Tavares.
3089M Generation of a comprehensive panel of
patient-derived pluripotent stem cells to dissect
3107M Mouse Model with Mutant Type I Collagen
oligodendrocyte dysfunction in the pediatric myelin
C-propeptide Cleavage Site has Brittle Bones and
disorder Pelizaeus-Merzbacher Disease. Z. Nevin.
Increased Osteoblast Mineralization. A. M. Barnes.
3090T The NINDS Repository collection of patient-
3108T Spliceosomopathies: an emerging link between
derived fibroblasts and induced pluripotent stem cells
the spliceosome and disorders of craniofacial and
for neurodegenerative disease research. C. A. Pérez.
skeletal development. D. C. Lynch.
3091S Human iPSC model of the Ras/MAPK pathway
3109S Novel COL1A2 Gene Mutation in Czech
role in neurodevelopmental disorders. E. Yeh.
Osteogenesis Imperfecta Patient: Case report. S.
Mazurova.
3092M New insights into the biological role of VAX2 in
human, in health and disease. G. Alfano.
188 POSTER SESSIONS
3110M Expending the phenotypic spectrum of PDE4D 3126T British Ectopia Lentis (EL) patients with novel
and PRKAR1A mutations : from acrodysostosis to ADAMTSL4 mutations: 2 homozygotes, 1 compound
acroscyphodysplasia. C. Michot. heterozygote and 1 compound heterozygote involving
a splice site. J. A. Aragon-Martin.
3111T Transcriptional Dysregulation Associated
with Somatic Neurofibromin Deficiency in Tibial 3127S Xeroderma Pigmentosum diagnosed in
Pseudoarthrosis with Neurofibromatosis Type 1. J. J. adulthood; atypical clinical presentation associated
Rios. with a novel genetic defect in XPC gene. C. Badenas.
3112S Compound heterozygosity for a frameshift 3128M Mutation spectrum of the ABCA4 Gene in
mutation and an upstream deletion that reduces Greek patients with Stargardt disease: Identification of
expression of SERPINH1 in siblings with a moderate two novel mutations and evidence of three prevalent
form of osteogenesis imperfecta. U. Schwarze. mutated alleles. S. Kamakari.
3113M Rare TBX6 null mutations in congenital

scoliosis. N. Wu. Development
3114T Alteration of conserved alternative splicing in 3129S nlz1 is required for cilia formation in zebrafish
AMELX causes enamel defects. J. Kim. embryogenesis. S. Dutta.
3115S Loss of function mutations reveal that DGAT1 3130S A primary ciliopathy protein plays an extra-
is essential for gastrointestinal homoeostasis, lipid ciliary role in neurodevelopmental disease. N.
absorption and triglyceride deposition in humans and Nuangchamnong.
cows, but not rodents. K. Lehnert.
3131S Congenital heart disease associated to PCD. J.
3116M Hennekam syndrome can be caused by FAT4 Wallmeier.
mutations and be allelic to Van Maldergem syndrome.
M. Alders.
3132S PKHD1 mutations are associated with the whole
spectrum of ductal plate malformations. J. B. Courcet.
3117T Novel variant of TNNI2 causes an atypical Distal
Arthrogryposis syndrome. C. T. Marvin.
3133S Stem Cells from Offspring of Mothers
Demonstrate Evidence for Developmental
3118S MTHFR and CBS: A risk factor for Down Programming in Obesity. P. R. Baker.
syndrome. A. kaur.
3134S Aberrant activation of the sex-determining gene
3119M Investigation of a missense in NOTCH4 in in early embryonic development results in postnatal
autosomal dominant scleroderma. C. J. Cardinale. growth retardation and lethality in transgenic mice. T.
Kido.
3120T Molecular Spectrum of Mutations in CFTR gene:
First Report from the Aegean region of Turkey and 3135S Autophagy retards inflammatory mRNA decay
definition of three novel mutations. A. Aykut. and elicits a white phenotype during adipocyte
maturation. J. Shan.
3121S Molecular Analysis of Dystrophic Epidermolysis
Bullosa in Iran. H. Vahidnezhad. 3136S RNA-Seq to identify novel markers for neural
tissue differentiation. Y. Sun.
3122M Genome-wide association meta-analysis of
6,365 subjects replicate EHF-APIP and identifies new 3137S A conserved role for IRF6 in neurulation. Y. A.
modifier loci of lung disease severity in Cystic Fibrosis. Kousa.
H. Corvol.
3138S Analysis of CAPZB function in cleft
3123T A Homozygous NIPAL4 Mutation In A Case With pathogenesis and lower jaw extension. K. Mukherjee.
Ichthyosis And Deafness. E. Arslan Ates.
3139S A novel transcriptional regulatory pathway in
3124S The ALK1 IVS3-35A>G polymorphism is cardiac and skeletal muscle. J. Bharj.
associated with arteriovenous malformations in
hereditary hemorrhagic telangiectasia patients
3140S The Role of RERE in Cardiovascular
with ENG mutations, but not in patients with ALK1
Development. H. P. Zaveri.
mutations. L. Pawlikowska.
3141S Characterization of a knock-in mouse model
3125M Neutral Lipid Storage Disease with Myopathy:
expressing the Stormorken syndrome mutation. T. H.
disease modeling using patients’ hiPSc. D. A. Coviello.
Gamage.
POSTER SESSIONS 189
3142S Haploinsufficiency of RERE contributes to the 3158T Chromosome aberrations in a mexican pediatric
development of cleft palate in 1p36 deletion syndrome. hospital. Ring chromosomes 4, 13 and 18. l. Hurtado-
B. Kim. Hernadez.
3159T Use of MLPA of buccal smear for Pallister-Killian
POSTER SESSIONS
3143S An animal model to investigate genetic variants
in patients with 46,XY Disorders of Sex Development. diagnosis. L. S. A. Costa.
H. Barseghyan.
3160T Cytogenetic characterization of 2 patients with
3144S An Allelic Series Reveals Novel Roles of Fgf supernumerary marker chromosomes (sSMCs) derived
Ligands in Skeletogenesis. I. H. Hung. from complex genetic rearrangements. A. L. Penton.
3145S Phenotypic and functional characterization of 3161T Double translocations in individuals and multiple
Bst+/- mouse retina. G. Sun. family members. D. H. Zaleski.
3146S Osteoblast development is driven by trans- 3162T Reversing differences in chromatin accessibility
acting regulations. K. Choi. that distinguish homologous mitotic metaphase
chromosomes. W. A. Khan.
3147S The Role of SOX7 and SOX17 in Cardiovascular
Development. A. Hernandez-Garcia. 3163T Longitudinal shortening in telomere length as a
biomarker for demenetia status of adults with Down
3148S Unraveling the genetic architecture of syndrome. E. C. Jenkins.
anencephaly: Identification and analysis of coding
variants in Cecr2 and candidate modifier genes of 3164T The role of copy number variation in non-
Cecr2 in mice and humans. R. Y. M. Leduc. syndromic cleft lip and palate. L. A. Harney.
3149S Rapid identification of kidney cyst mutations by 3165T Characterization of a fusion gene involving the
whole exome sequencing in zebrafish. J. R. Willer. leptin gene generated by a de novo 7q32.1 duplication
associated with severe anorexia. J. Lévy.
3150S A Tgds mutation in a novel mouse model of
Pierre-Robin sequence-type clefting. B. C. Bjork. 3166T Automated Dicentric Chromosome Identification
by Machine Learning-Based Image Processing. P. K.
3151S The transcriptional co-regulator Jab1 is required Rogan.
for skeletogenesis. G. Zhou.
3167T Detectable mosaic 13q14 deletions in non-
3152S SPECC1L modulation of adherens junctions hematologic cancers and healthy controls. M. Yeager.
and PI3K-AKT signaling is required for collective cell
migration in facial morphogenesis. N. Wilson. 3168T Microdeletions and Microduplications in
Brazilian Children with intellectual disability from a
3153S Retinoic acid induced-1 (Rai1) regulates public health service. A. D. da Cruz.
craniofacial and brain development in Xenopus. R.
Tahir. 3169T First case of homozygous deletion in the
ABAT gene leading to GABA-T deficiency and severe
3154S The chromosome 3p22.3 region is a potential neonatal neurologic disease. A. Mosca-Boidron.
novel locus for complex heart disease, anorectal
malformation and intellectual disability. G. Akler. 3170T Manifestations of Xp22.2-22.13 and Xp21.3
microduplications. M. Goto.
3155S The sex-determining factor SRY is involved
in numerous early events of testis differentiation 3171T Comparison of de novo and inherited copy
including testis cord formation. Y. Lau. number variants of unknown clinical significance. L.
Matyakhina.
3156S New insights in holoprosencephaly inheritance
: Exome sequencing in families reveals new double-hit 3172T Whole Genome Characterization of Copy
and recessive cases. C. Mouden. Number Variation Regions in 2000 Phenotypically
Normal Individuals. A. Roter.
3157S Whole Exome Sequencing (WES) to Analyze the
Genetic Basis of Non Syndromic Cleft Lip and Palate. 3173T Familial transmission of 5p13.2 duplication due
M. Basha. to maternal der(X)ins(X;5). L. C. Walters-Sen.
3174T Submicroscopic chromosomal imbalances

Cytogenetics in patients with intrauterine growth retardation and
features of Silver-Russell syndrome. A. Bonaldi.
3175T Multiple homozygosity regions in a girl with

unexplained intellectual disability. C. C. da Silva.
190 POSTER SESSIONS
3191T Cytogenetic Abnormalities in Products of

3176T Mate-pair sequencing analysis of karyotypically
Conception; Analysis and Review of NSUH series of
balanced chromosomal rearrangements associated
cases. J. Paul.
with cryptic imbalances reveals additional structural
variants and complex genomic reorganization typical
3192T Haploid-insufficiency and triploid-insensitivity of
of chromothripsis or replication mechanisms. A. C. S.
the same 6p25.1p24.3 region in a family. Z. Qi.
Fonseca.
3193T A (2;12)(p12;p13) translocation in a Down

3177T Novel H3K4me3 marks are enriched at human-
Syndrome patient with B-ALL. Y. Kim.
and chimpanzee-specific cytogenetic structures. G.
Giannuzzi.
3194T An uncommon coincidation of multiple myeloma
and myelodysplastic syndrome. S. Berker Karauzum.
3178T Detection of copy number variation in single
cells by next generation sequencing. F. Kaper.
3195T An easy cIg-FISH Protocol For Multiple Myeloma
which can be incorporated as Routine Cytogenetic
3179T Mosaicism in a Mosaic: Reduced capacity of
Laboratory Practice. L. Gole.
female X chromosomes to resist age-related structural
erosion. M. J. Machiela.
3196T Homozygous Deletion of TEL (ETV6) in
Childhood Acute Lymphoblastic Leukemia (ALL):
3180T Array-based analysis reveals partial 11q14
Prognostic Implications. G. Velagaleti.
duplication in a familial case with intellectual disability,
short stature and mild dysmorphic features. R. Satomi.
3197T A maternally inherited 697.4 kb SOX3 duplication
in a female fetus with neural tube defects. N. Cohen.
3181T 15q11.2 duplication encompassing only the
UBE3A gene is associated with developmental delay
and neuro-psychiatric phenotypes. A. Noor. 3198T Phenotype/genotype effect of 14q32.3 terminal
deletion and 9p duplication. S.Ghareeb. Abd Allah.
3182T A duplication of the CDKL5 gene identified in a
boy with developmental delay with autistic behavior, 3199T Two new cases of chromosome 7p22.1
short stature and microcephaly. K. Takano. microduplication detected by array CGH. R. G.
Hutchinson.
3183T Apparent fetal developmental correction of
partial monosomy 4 secondary to possible inheritance 3200T Partial Microduplication of PTEN in a girl with
of a single translocation derivative. V. Potluri. multiple congenital abnormalities including agenesis
corpus callosum. C. P. Oliveira.
3184T Complex mosaic chromosome rearrangement
in a patient with Phelan-McDermid Syndrome. C. 3201T Is it time to retire the standard 15colonies/20
Purmann. cell chromosome analysis if chromosome microarray
analysis (CMA) is concurrently ordered in prenatal
testing? A. Patel.
3185T CMIP, a Strong Candidate Gene Involved in the
Autism Spectrum Disorder. M. Luo.
3202T Pigmentary mosaicism with 45,X and an extra
marker containing the Xp11.22-p11.23 region. P. Pérez-
3186T Cytogenetic studies of the drug Methotrexate
Vera.
( MTX) on the blood lymphocytes of colon cancer
patients. Z.MT Jaafar.
3203T The identification of ring 13 chromosome
and breakpoint region at a Brazilian child requires
3187T Molecular cytogenetic characterization of a
karyotype, FISH and microarray analysis. I. P. Pinto.
patient diagnosed with dimorphic anemia carrying de
novo rare ring chromosome 7 along with t(7;9). S. K.
Bhattacharya. 3204T Proximal 3p deletions: phenotypic
characterization and molecular delineation. I. Song.
3188T Reciprocal microdeletions and
microduplications of CNTN6 gene (3p26.3) in patients 3205T A novel familial gain of 3q25.2-3q25.31 involving
with intellectual disability. I. Lebedev. OMIM genes SLC33A1, GMPS, and MME. K. Swisshelm.
3189T Co-occurrence of non-mosaic trisomy 22 and 3206T Position effects modify gene expression in a ring
inherited balanced t(4;6)(q33;q23.3) in a live-born chromosome 14? R. S. Guilherme.
female: Case report and review of the literature. J. Liu.
3207T Partial trisomy 17q and partial monosomy 20q in
3190T Identification And Characterization Of Marker a boy with craniosynostosis. F. A. Marques.
Chromosome In a Patient with Turner’s Syndrome. s.
sharma. 3208T Meiotic I error in a Thai girl with tetrasomy
9p syndrome identified by SNP microarray. C.
Charalsawadi.
POSTER SESSIONS 191
3209T A case of probable constitutional trisomy 3
mosaicism. M. Kekis. Cancer Genetics
3210T A de novo microduplication at 7q11.23 from 3224S Targeted RNA sequencing of breast cancer
Central Brazil detected by Chromosomal Microarray
POSTER SESSIONS
genes using a genomic capture approach: cBROCA.
Analysis. L. B. Minasi. S. Casadei.
3211T The 9p trisomy due to maternal t(9;22) in four 3225M The 12p13.33/RAD52 and 13q13.1/BRCA2 loci
patients suggesting a palindorm mediated mechanism and genetic susceptibility to squamous cell cancers of
involving chromosome 9q12. A. Mohamed. upper aerodigestive tract. M. Delahaye-Sourdeix.
3212T An Investigation of Pediatricians’ Use of 3226T FOXA1 binding sites are predictive of breast
Microarray. N. A. Watkins. cancer risk. M. Ghoussaini.
3213T Clinical and molecular cytogenetic 3227S Identification of Large Intergenic Non-coding
characterisation of Williams syndrome. B. Kar. genes as Candidate Targets for Prostate Cancer risk-
SNPs Utilizing a Normal Prostate Tissue eQTL Dataset.
3214T Target-specific synthetic oligonucleotide Y. Zhang.
libraries for use in Fluorescent In Situ Hybridization. K.
C. Semrau. 3228M BRCA1 and BRCA2 mutational screening in 223
hereditary breast cancer patients in Chile: genotype-
3215T Mapping breakpoints of a familial chromosome phenotype correlations. C. Alvarez.
insertion (18:7) (q22.1; q36.2q21.11) to DPP6 and
CACNA2D1 genes in an azoospermic male. W. Fan. 3229T Identification of new familial breast cancer
susceptibility genes: are we there yet? I. Campbell.
3216T Refining 16p11.2 microdeletion region for
Intellectual Disability/Developmental Delay (ID/DD). P. 3230S Significant evidence for linkage of cutaneous
S. Lai. malignant melanoma to 1q41. L. A. Cannon-Albright.
3217T A Five Year Retrospective Analysis of the Utility 3231M Expression and insertion of MMTV/HMTV env
of Family Segregation Analysis in the Evaluation of gene sequences in human breast cancer. A. Cedro-
the Clinical Significance of Variants of Uncertain Tanda.
Significance Detected by Chromosomal Microarray:
The Greenwood Genetic Center Experience. F. Bartel.
3232T Association of P2RX7 gene polymorphisms and
cervical squamous cell carcinoma risk. T. Chang.
3218T Interstitial duplications of 19p13.3. H. Risheg.
3233S Functional Variants at The 21q22.3 Locus
3219T Prenatal Chromosome Rearrangements and Involved in Breast Cancer Progression Identified
Markers: Normal SNP Microarray Analysis Associated by Screening of Genome-Wide Estrogen Response
with Favorable Pregnancy Outcome. J. H. Tepperberg. Elements. H. Chu.
3220T Validation of an Ion AmpliSeq™ RNA Lung 3234M Post-GWAS functional characterization of the
Fusion Panel, workflow, and analysis solution: an 12p11.23 renal cancer susceptibility locus. L. M. Colli.
OncoNetwork collaborative research study. J. G.
Cienfuegos.
3235T Targeted Gene Sequencing in Familial Colorectal
Cancer Type X. J. Cunningham.
3221T Variation in the Zinc Finger Binding Domain
of PRDM9 is Associated with the Absence of
3236S SF3B1 mutations in different cancer types cause
Recombination on 21q. T. Oliver.
recognition of sterically hindered cryptic splice-sites
downstream of the branch point. C. DeBoever.
3222T Importance of cytogenetic and molecular
characterization of patients with pigmentary
3237M Targeted Germline Sequencing of Young Onset,
mosaicism. C. Salas-Labadia
Proficient Mismatch Repair Colorectal Cancer Genes.
M. S. DeRycke.
3223T Chromosome Therapy: Correction of Large
Chromosomal Aberrations by Inducing Ring
3238T Characterization of OLFML3 mutations in non-
Chromosomes in Induced Pluripotent Stem Cells
small cell lung cancer. C. Drennan.
(iPSCs). T. Kim.
3239S Hox pattern expression and non coding
transcripts in the HOX locus are associated with adult
medulloblastoma subtype. A. M. Fontes.
3240M Associations between UGT1A polymorphisms

and haplotypes and lung cancer risk. C. J. Gallagher.
192 POSTER SESSIONS
3241T Ptprj-interacting susceptibility genes for 3258M Identification of familial Wilms tumor
colorectal cancer. M. Gerber. predisposition genes using whole genome sequencing.
T. B. Palculict.
3242S Hereditary Acute Myelogenous Leukemia (AML)
in a Druze family. Y. Hadid. 3259T The FANCM c.5791C>T nonsense mutation
(rs144567652) induces exon skipping and is a risk
3243M A Novel Risk Variant at the 8q24 Cancer factor for familial breast cancer. P. Peterlongo.
Susceptibility Locus in Men of African Ancestry. Y. Han.
3260S The CDH1 gene as a susceptibility locus for
3244T Molecular characterization of oncogenic lobular breast carcinoma. C. Petridis.
properties of S100A4 in pancreatic and lung cancers
and identification and characterization of candidate 3261M Melanoma Profiler Web Tool for Integrative
downstream genes. A. Horii. Genomic Analysis of Melanoma. K. Qaadri.
3245S Estrogen Receptor Gene Polymorphisms and 3262T Development of a Next Generation Sequencing
Lung Adenocarcinoma Risk in Never-smoking Women. Panel for Clinical Diagnostic Analysis of Breast and
CF. Hsiao. Ovarian Cancer. C. Rapp.
3246M PALB2 mutations among unselected pancreatic 3263S ABRAXAS (FAM175A) and breast cancer
cancer patients in the Czech Republic. M. Janatova. susceptibility: no evidence of association in the Breast
Cancer Family Registry. A. Renault.
3247T Next-generation panel based characterisation
of breast/ovarian cancer genetic predisposition. R. 3264M Association between rare and common variants
Janavicius. in DNA repair genes and prostate cancer using the
iCOGS genotyping array. E. Saunders.
3248S Identification of germline mutations in
hereditary prostate cancer families satisfying clinical 3265T Frequency of novel and known deleterious
testing criteria for hereditary breast and ovarian germline variants in rhabdomyosarcoma and
cancer. A. M. Johnson. neuroblastoma by next-generation sequencing. D. R.
Stewart.
3249M Fine-mapping of 67 prostate cancer GWAS
regions identifies better and multiple association 3266S A recurrent germline mutation in the splicing
signals. Z. Kote-Jarai. factor SRRM2 gene is implicated in papillary thyroid
cancer predisposition. J. Tomsic.
3250T Localization and Expression Level of p16
Correlate with Patient’s Survival and Human Papilloma 3267M BCL7B functions as a tumor suppressor in the
Virus Status in Oropharyngeal Squamous Cell Wnt signaling pathway. T. Uehara.
Carcinoma. S. Lai.
3268T Investigating the genetic basis of multiple
3251S HOXB13 G84E germline mutation and prostate primary tumors. Clinical and gene panel analyses. J.
cancer risk in the UK. D. A. Leongamornlert. Whitworth.
3252M Identification of hereditary alterations 3269S Characterization of T gene sequence variants

predisposing to breast cancer using Next-Gen and germline duplications in familial and sporadic
Sequencing. F. Lhota. chordoma. R. X. Yang.
3253T Germline copy number variant analysis as a 3270M Exome sequencing identified potential
mechanism to identify novel high-risk endometrial causative candidate genes for hyperplastic polyposis
cancer gene mutations. F. Lose. syndrome. S. Aretz.
3254S Fine-scale mapping of the 12q24 breast cancer 3271T Identification of the frequent hereditary cancer
susceptibility locus. K. Michailidou. mutations in high-risk non-BRCA breast cancer
patients from Puerto Rico. J. Dutil.
3255M Germline mutational analysis in Mexican
patients with Lynch Syndrome. J. M. Moreno-Ortiz. 3272S Deleterious mutations in multiple cancer-risk
genes in individuals from a high-risk cancer genetics
3256T Deep intronic sequencing of mutation-negative clinic. C. M. Laukaitis.
Lynch Syndrom patients. A. M. Nissen.
3273M Whole exome sequencing to identify novel
3257S Ephrin Receptor Genotypes Modify breast cancer susceptibility genes. K. N. Maxwell.
Chemotherapy-Induced Peripheral Neuropathy
Symptoms: A Candidate Gene Study in Breast Cancer 3274T Germline epigenetic inactivation of BAP1 in a
Patients. K. N. H. Nudelman. subset of patients with uveal melanoma. R. Pilarski.
POSTER SESSIONS 193
3275S Integrating Whole Genome and Exome 3291M Association of 2R3R polymorphism of the
Sequencing with Structural Variation Analysis to Thymidylate synthase gene with toxicity in breast
Identify Potential Causative Mutations in Patients cancer patients treated with FEC chemotherapy. M. P.
with Cancer Phenotypes Suggestive of Li-Fraumeni Gallegos-Arreola.
Syndrome. D. I. Ritter.
POSTER SESSIONS
3292T Regulatory polymorphisms in lymphoma and
3276M Causative novel POLE mutations in hereditary chronic lymphocytic leukemia risk. J. Hayes.
colorectal cancer syndromes. A. M. Rohlin.
3293S Role of polymorphic fibroblast growth factor
3277T Parental Inheritance and WT1 Abnormality Types receptor (FGFR) Gene and Breast Cancer Risk. M.
May Affect the Penetrance Rate of Hereditary Wilms Hosseini.
Tumor. Y. Kaneko.
3294M GWAS meta-analysis identifies three novel risk
3278S Functional characterization of the 19p13 breast loci for melanoma at 6p22, 7q21 and 9q31. M. H. Law.
and ovarian cancer risk locus identifies ABHD8 as a
novel candidate breast-ovarian cancer susceptibility 3295T Detection of trans and cis splicing QTLs through
gene. J. Beesley. large scale cancer genome analysis. K. Lehmann.
3279M Identification of germline mutations in 3296S Genome-wide association study of breast

TEP1 among familial and sporadic pediatric acute cancer in Japanese population. S. Low.
myelogenous leukemia cohorts. N. R. Oak.
3297M New insights into ovarian cancer from the
3280T Hdac9 Intronic Enhancer Variants as Candidates investigation of overall genetic sharing. Y. Lu.
for Skin Cancer Risk. A. Toland.
3298T Exploring the Role of Regulatory Variation in
3281S Allelic imbalance in gene expression as Linkage Disequilibrium with Cancer Risk SNPs. D. S.
a mechanism in breast cancer development. I. Park.
Pulyakhina.
3299S Association of 2R3R polymorphism of the
3282M Germline Mutations in Men with Multiple Thymidylate synthase gene with in breast cancer
Primary Malignancies from a Hereditary Prostate advanced stage patients. A. M. Puebla-Pérez.
Cancer Cohort. P. G. Pilie.
3300M Differences of nitric oxide level in Mexican
3283T Genetic analysis of the chromosome 15q25.1 breast cancer patients. R. Ramírez-Patiño.
region identifies IREB2 variants associated with lung
cancer. C. Amos.
3301T Admixture scan of breast cancer in U.S. black
women: the AMBER consortium. E. A. Ruiz-Narvaez.
3284S Genome-wide analyses identify gene interaction
between SMAD7 and body mass index with risk of
3302S Estimation of de novo mutation rates in
colorectal cancer. P. T. Campbell.
the offspring of Lynch syndrome families. S.
Shankaracharya.
3285M Estimation of Whole Genome Variations of
Hepatocellular Carcinoma among Chronic Hepatitis C
3303M Excess Prevalence of Gastric Cancer Family
Patients. Y. Chang.
History Among Hispanic Breast Cancer Patients. I.
Solomon.
3286T Functional characterization of PARP1
melanoma-associated locus. J. Choi.
3304T Association of polymorphism in GSTM1 null with
obesity in breast cancer patients triple negative. O.
3287S Heritable missense variant rs3731249 underlies Soto-Quintana.
the CDKN2A association with childhood ALL and is
preferentially retained by tumors harboring somatic
3305S Genetic Variants related to presence of Bladder
CDKN2A loss. A. J. de Smith.
Cancer in a high risk, arsenic-exposed population in
Northern Chile (Antofagasta). C. Vial.
3288M Leveraging Sequence and Phenotype-Specific
Information to Design Custom Genotyping Arrays:
3306M Heterogeneous DNA methylation contributes to
Example from Prostate Cancer. N. Emami.
tumorigenesis by inducing the loss of co-expression
connectivity in colorectal cancer. Q. Wang.
3289T Genome-wide scan identifies variants in 2q12.3
and 9q22.33 associated with risk of multiple myeloma.
3307T Pathways associated with susceptibility of
S. W. Erickson.
nasopharyngeal carcinoma (NPC) identified by whole-
exome sequencing in Taiwanese NPC families. G. Yu.
3290S Genetic determinants of Breslow tumor
thickness and their impact on melanoma progression.
3308S Female Reproductive Traits and Lifespan in
S. Fang.
BRCA Families. W. Zhuang.
194 POSTER SESSIONS
3309M Assessing the Cumulative Contribution of New 3324M Chromosomal Mosaicism in Patients with
and Established Common Genetic Risk Factors to Familial Chronic Lymphocytic Leukemia. L. R. Goldin.
Early-Onset Prostate Cancer. K. A. Zuhlke.
3325T Comprehensive discovery of structural variation
3310T Determination of cancer susceptibility in early- in Multiple Myeloma via single molecules. A. Gupta.
onset colorectal cancer (CRC) patients. K. A. Schrader.
3326S A meta-analysis of somatic copy number
3311S Hispanic MMR Mutations: A Multi-Institutional alterations in Hepatocellular Carcinoma. K. Hao.
Report from Southwestern United States and Puerto
Rico. A. Sunga. 3327M A t(1;19) translocation involving TCF3/PBX1
fusion within a context of a hyperdiploid karyotype in
3312M Pleitropy between Hodgkin lymphoma and adult B-ALL. B. J. Lasky.
other immunological diseases. W. Cozen.
3328T Promoter-specific alterations of apc are a rare
3313T Prospectively Identified Incident Testicular cause for mutation-negative familial adenomatous
Cancer Risk in a Familial Testicular Cancer Cohort. A. polyposis. T. T. Nieminen.
Pathak.
3329S Comparison of CNV detection from whole-
3314S The significance of N-acetyltransferase 2 exome sequencing and microarray platforms using
(NAT2) genotypes in combination with phenotypes matched tumor-normal samples from TCGA. A. O’Hara.
to risk of bladder cancer in a Chinese population. K.
Chattopadhyay. 3330M A New Method for High Fidelity Copy
Number Analysis in Solid Tumor Samples and its
3315M DEPTH: A Novel Algorithm for Feature Ranking implementation in the OncoScan™ FFPE Assay Kit. J.
with Application to Genome-Wide Association Studies Schmidt.
Identifies that Variation in the ESR1 Gene Region is
Associated with Risk of Estrogen Receptor Negative 3331T The dilution dilemma; a method to accurately
Breast Cancer from a Small Study. E. Makalic. estimate tumor fractions in complex tumor/normal
DNA dilutions. Z. M. Weber.
3316T DEPTH: A Novel Algorithm for Feature Ranking
with Application to Genome-Wide Association Studies 3332S Age-related mosaic loss of chromosome Y is
Identifies that Variation in the CHEK2 Gene Region is associated with cancer in cohort studies. W. Zhou.
Associated with Risk of Breast and Colorectal Cancer.
D. F. Schmidt. 3333M The actual impact of Fluorescence in Situ
Hybridization (FISH) in the diagnosis and follow up of
3317S Integrated pathway and gene-gene interaction Acute Lymphoblastic Leukemia (ALL). H. Akin.
analysis reveals novel candidate genes for melanoma.
M. Brossard. 3334T System for high throughput Identification of
breast and ovarian cancer associated chromosomal
3318M Combined pathway and gene-gene interaction abnormality. Y. W. Chang.
analysis pinpoints biologically relevant genes for a
major melanoma prognosis factor. A. Vaysse. 3335S Unique Recurrent Cytogenetic Aberrations
Distinguish Between Molecular Subtypes of DLBCL
3319T A Population-based survey of excess cancers and Burkitt Lymphoma: An Analysis of Unsupervised
observed in NF1 cases and in their first- and second- Clusters and Logistic Regression Based Models. R.
degree relatives. D. Abbott. Garcia.
3320S Identification of somatic structural events 3336M A rare transformation case report: from Chronic
associated with L1 element activity in 208 colorectal Lymphocytic Leukemia to Multiple Myeloma. C. Hangul.
cancers using whole genome sequence analysis. T.
Cajuso. 3337T Specific Gene Expression Profiles of Diffuse
Large B-cell lymphoma and Burkitt Lymphoma
3321M Duplication of 7p21.3-p14.3: metastasis risk, Identified a Set of Enriched Genes that Positively
cancer susceptibilities and ethical implications. M. R. Correlates with Cytogenetics Data. P. Koduru.
S. Carvalho.
3338S The Clinical Utility of CpG-Oligodeoxynucleotide
3322T A copy number variation genome-wide Stimulation in Chromosomal Analysis for patients with
association study identifies two new cervical cancer Chronic Lymphocytic Leukemia (CLL) and a possible
susceptibility loci at NEDD4L and CTDSPL. D. Chen. secondary Myeloid Neoplasm. C. A. Marcou.
3323S Comprehensive genetic analysis of cell-free 3339M Chromosomal Aberrations associated with
circulating nucleic acids through next-generation methylation in ependymomas in Mexican pediatric
sequencing. J. Fan. patients. M. Pérez Ramírez.
POSTER SESSIONS 195
3340T Toward rapid identification of coding fusions 3356S The Activation of LINE-1 Retrotransposition in
and structural rearrangements in cancer genomes: Barrett’s Esophagus and Esophageal Carcinoma. T. T.
Multiple Myeloma First. M. Rossi. Doucet.
3341S Conventional Cytogenetic and Molecular 3357M A big family of adenomatous polyposis with
POSTER SESSIONS
Genetic Analysis of Pancreatic Cancer. D. Shabsovich. different extraintestinal manifestations. M. Duz.
3342M The ZNF384 gene in pediatric acute 3358T Exomic and transcriptomic patterns of colitis-
lymphoblastic leukemia - multiple partner genes, associated carcinoma. D. Esser.
immature (CD10 negative) immunophenotype, and
potential good outcome. M. Shago. 3359S Analysis of metastatic diffuse gastric cancer
genomes in a Mendelian family with an inherited CDH1
3343T A complex karyotype with a cryptic t(11;14) mutation. S. Greer.
(q13;q32) in a Blastoid Crisis of Mantle Cell Lymphoma.
C. A. Tirado. 3360M The mutational landscape of peritoneal
malignant mesothelioma. O. Harismendy.
3344S Identification of Semi-Cryptic and Variant
Translocation Partners of RUNX1 gene in Acute 3361T The Landscape of Inherited and Somatic
Myeloid Leukemia (AML). A. Yenamandra. Mutations in Fallopian Tube Carcinoma. M. I. Harrell.
3345M Somatic gene fusions in human cancer revealed 3362S A rare somatic mutation in the TEL patch of
by whole exome sequencing. L. Yang. telomere protein TPP1 acts as a driver of childhood
acute lymphoblastic leukemia. J. Healy.
3346T A Personalized Genomic Signature of Lung to
Brain Metastasis. J. M. Furgason. 3363M Mutational spectrum of RET Proto-oncogene in
Iranian Patients with Medullary Thyroid Carcinoma. M.
3347S RAS driver mutations are present in 36% of Hedayati.
acute lymphoblastic leukaemia cases in children with
Down syndrome and are mutually exclusive with JAK2 3364T Analysis of RNA-Sequencing Data Reveals
mutations. D. Nizetic. Association of JAK-STAT Pathway with NK/T-Cell
Lymphoma. JH. Hwang.
3348M Integrated analysis of transcriptome and exome
in cancer samples improves interpretation and reveals 3365S Exome sequencing reveals novel mutation
additional therapeutic insights. S. M. Boyle. hotspots in microsatellite unstable colorectal cancer.
U. A. Hänninen.
3349T Deep targeted sequencing for accurate
identification of low frequency somatic variation in 3366M Detection of mutation hotspots through
cancer. D. Burgess. mutation set enrichment analysis. P. Jia.
3350S Exome sequencing identifies novel cancer- 3367T Advanced qualification and quantification of
predisposing genes in familial thyroid cancer. A. amplifiable genomic DNA (gDNA) for PCR-based
Chaudhuri. targeted enrichment prior to next-generation
sequencing. Q. Jiang.
3351M Dysregulation of TGFB pathway in the
formation of chordoma. W. Chen. 3368S Genetic Alterations and Evolutionary Behavior in
Liver Metastatic Colorectal Cancer. B. Lim.
3352T Whole Exome Sequencing study of HPV-Positive
and HPV-Negative Oropharyngeal Squamous Cell 3369M Whole exome sequencing reveals that DNA
Carcinoma: Mutational Profile and Predisposition Gene repair and apoptosis pathways are affected in
Identification. JS. CHOI. hereditary breast cancer cases. J. L. D. Mentoor.
3353S Evaluation of a multiplex PCR targeted 3370T Selective depletion of abundant RNAs to
enrichment approach for the detection of actionable enable transcriptome analysis of low input and highly
mutations in FFPE samples via Next-Generation degraded RNA from FFPE breast cancer samples. D.
Sequencing. F. de Abreu. Munafo.
3354M Whole Genome Sequencing of Aggressive, 3371S Development of a novel Hotspot Frequency
Treatment-Naïve Prostate Tumors. B. Decker. Ladder for Next Generation Sequencing (NGS) assay
workflows. N. Nataraj.
3355T iCAGES: integrated CAncer GEnome Score for
understanding personal cancer genomes. C. Dong. 3372M Shared driver genes of familial and sporadic
pancreatic cancer may explain the similar age of
onset. A. L. Norris.
196 POSTER SESSIONS
3373T Features of variants called from whole exome 3390M Comparison of NGS solutions for rapid and
sequencing versus transcriptome sequencing in lung cost-effective analysis of degraded FFPE and cancer
cancer. T. O’Brien. biobanked specimens with limited quantity. A. Brooks.
3374S Patterns of somatic mutations in hepatitis B 3391T Molecular characterization of over growth
virus-associated hepatocellular carcinomas. Q. Pan. syndromes using NGS reveals potential phenotype-
genotype correlation. F. Chang.
3375M Highly sensitive, non-invasive detection of
colorectal cancer mutations using single molecule, 3392S Small clone of JAK2V617F positive chronic
third generation sequencing. G. Russo. eosinophilic leukemia detected by realtime PCR. N. Yu.
3376T Integrating eQTLs from a range of normal 3393M Approaches to Integrating Germline and Tumor
human tissues with cancer genomics to help identify Genomic Data in Cancer Research. L. E. Mechanic.
germline risk alleles in cancer driver genes. A. V. Segre.
3394T Multiplex detection of KRAS mutations in
3377S Identification of mutations in oral cavity colorectal cancer FFPE samples using droplet digital
squamous cell carcinoma induced by betel quid PCR. S. Cooper.
chewing in Taiwan. Y. Shih.
3395S Evidence of multiple independent NF2
3378M Subclonal evolution and genomic drivers of somatic inactivation and tumor initiation events
relapse in childhood acute lymphoblastic leukemia. JF. in neurofibromatosis type 2-associated vestibular
Spinella. schwannomas. A. Pemov.
3379T Integrative analysis of regulatory aberrations in 3396M MicroDNA (Extra Chromosomal Circular DNA) in
lung adenocarcinoma cell lines. A. Suzuki. Mammalian Tissues and Cancer Cell Lines. P. Kumar.
3380S Molecular profiling in diagnosis and determining 3397T Heterozygous mutations in PALB2 predispose to
prognosis of “early” myelodysplastic syndrome. M. breast cancer by causing DNA replication and damage
Thangavelu. response defects. R. Winqvist.
3381M The Mutation Profiles of JAK2, MPL, CALR, 3398S Investigation of de novo mutation rates in
LNK, CBL, ASXL1 and DNMT3A genes in BCR/ families with DNA Polymerase and exonuclease
ABL1 and JAK2V617F Negative Myeloproliferative domain mutations. S. E. W. Briggs.
Neoplasms. B. Türkgenç.
3399M NBN gene expression and cytogenetic changes
3382T Whole genome sequencing of high-risk families in irradiated cells with NBN gene mutations. D.
to identify new mutational mechanisms of breast Januszkiewicz-Lewandowska.
cancer predisposition. T. Walsh.
3400T Mechanism of formation of complex
3383S DICER1 mutations occurring in childhood chromosomal aberrations in patients with
anaplastic sarcoma of kidney. M. Wu. myelodysplastic syndromes (MDS): clonal evolution or
chromothripsis? Z. Zemanova.
3384M Single-cell mutation detection with multiplex
PCR-based targeted enrichment sequencing. Z. Wu. 3401S A new control mechanism for repair of DNA in
human cells: MDC1 and ATR regulate DNA Double-
3385T Patient-oriented functional genomics analysis of Strand Break (DSB) resection independently of ATM. P.
p53 mutations in cancer. O. Zill. S. Bradshaw.
3386S Expression of genomic somatic mutations 3402M Breast cancer eQTLs from the Nurses’ Health
at the levels of transcriptome and proteome in a Study. A. Hazra.
patient of hepatocellular carcinoma with MSH2
haploinsufficiency. K. Ding. 3403T Utilization of Bioluminescence Resonance
Energy Transfer (BRET) for functional evaluation of
3387M APC promoter 1B deletion in seven American missense variants at the BRCA1-BARD1 heterodimeric
families with familial adenomatous polyposis. A. K. RING-RING interface. T. Kayoko.
Snow.
3404S TERT Polymorphism rs2736100-C Is Associated
3388T Therapy-related Acute Myeloid Leukemia with EGFR Mutation-Positive Non-Small Cell Lung
Transformed from Juvenile Myelomonocytic Leukemia Cancer. W. Liu.
with Loss of a PTPN11 Somatic Mutation. Y. Kim.
3405M Genome Analysis of Latin American Cervical
3389S High-resolution characterization of a leiomyoma Cancer: Frequent Activation of the PIK3CA Pathway.
on Mayer-Rokitansky-Kuster-Hauser syndrome. Y. Wu. H. Lou.
POSTER SESSIONS 197
3406T CARP Is a Potential Tumor Suppressor in 3423M Constitutive mismatch repair deficiency
Gastric Carcinoma. F. Lu. syndrome:clinical description in a French cohort. C.
Colas.
3407S Association of Platelet Derived Growth
Factor-B (PDGF-B) and Human Epidermal Growth 3424T Germline TP53 mutation analysis in HER2-
POSTER SESSIONS
Factor Receptor -2 (HER-2/neu) Single Nucleotide positive breast cancer patients from Southern Brazil.
Polymorphisms (SNP’s) with Gallbladder Cancer (GBC). M. Fitarelli-Kiehl.
K. Mishra.
3425S The DICER1 Leiden Open Variation Database
3408M Highly Sensitive Fusion Transcript Detection (LOVD). N. Hamel.
and Quantification in Cancer. L. C. Watson.
3426M Breast Cancer in PTEN Hamartoma Tumor
3409T Charting gene regulatory networks for Syndrome: Can a Predictive Fingerprint Be Identified?
interpreting prostate cancer GWAS results. G. Wei. A. Machaj.
3410S Functional analysis of mutations in polymerase 3427T Further Defining the Polyposis Phenotype
epsilon gene that predispose to polymerase Associated with PTEN Mutations. L. Panos.
proofreading associated polyposis (PPAP). E. Heitzer.
3428S Mutation and uncertain variant findings in ethnic
3411M From GWAS to therapy: Fatty acid synthase in minority patients undergoing multi-gene panel testing
uterine leiomyomata. Z. Ordulu. for cancer risk assessment at a safety-net public
hospital. CN. Ricker.
3412T Evaluation of miR-338-3p role in the progression
of Esophageal Squamous Cell Carcinoma. H. Mollaei. 3429M Majority of PTEN mutations identified on
multi-gene panel tests are in non-classic patients:
3413S Assessment of the clinical relevance of variants Expanding clinical phenotype or incomplete clinical
of uncertain significance in BRCA2 by functional and history? E. C. Weltmer.
computational approaches. L. Guidugli.
3430T DNA methylation profiling to assess
3414M The role of the cilia protein Arl13b in activated- pathogenicity of BRCA1 unclassified variants in breast
Smoothened medulloblastoma oncogenesis. S. N. Bay. cancer. K. Flower.
3415T Modeling cancer in zebrafish embryos. L. 3431S Overexpression of MicroRNA-200c predicts poor
Francescatto. outcome in patients with PR-negative breast cancer.
K. Luostari.
3416S Lifestyle Issues of BRCA Mutation Carriers that
May Affect and Health Outcomes. A. Caceres. 3432M PDGFB hypomethylation is a favorable
prognostic biomarker in primary myelofibrosis. M.
3417M Small molecule of natural origin has potential Miozzo.
to activate TLR3 and aid in immunotherapy for cancer.
A. Das. 3433T MiR-145 regulates stem cell characteristics
of human laryngeal squamous cell carcinoma Hep-2
3418T Accurate and inexpensive sequencing of BRCA1 cells. M. Ozen.
and BRCA2: Application to a US-wide study of breast
cancer in Latinas. M. Dean. 3434S Methylation of MLH3 Promoter: new recurrent
finding in low grade gliomas. H. Lhotska.
3419S How choriocarcinoma DNA identification
can interfere in treatment decision? A report of two 3435M A Custom 5m-SeqTM Cancer NGS Panel to
unexpected cases. G.JF. Gattas. Detect Epigenetic Signatures of Various Cancer Types.
J. Alexander.
3420M A simple mainstreamed, oncogenetic pathway
delivers fast, affordable routine BRCA testing for 3436T Differential DNA Methylation Patterns in
ovarian cancer (OC) patients. H. Hanson. Hereditary Non-polyposis Colorectal Cancer with or
without Germline MLH1/MSH2 Mutation. C. H. Chen.
3421T Inhibition of STAT3 and RelA expression levels
Bortezomib treated K-562 leukemic cells and indiction 3437S A Custom 5m-SeqTM Immunology NGS Panel to
of apoptosis. N. Selvi Günel. Detect Epigenetic Signatures in Various Cancer Types.
A. Meyer.
3422S Real-time and sequential profiling of cancer
through concurrent somatic mutation and gene 3438M HES1 gene expression in patients with
amplification analysis of cancer by digital sequencing Medullary Thyroid Cancer is independent of its
of cell-free DNA from patients with metastatic solid promoter methylation. M. G. Cardoso.
tumors. A. Talasaz.
198 POSTER SESSIONS
3439T Genetic characterization of near-haploid and 3455S A case-control study of SNPs affecting
low hypodiploid acute lymphoblastic leukemia. S. microRNA binding sites in chronic myeloid leukemia.
Safavi. H. Gutiérrez-Malacatt.
3440S Functional HPSE gene SNP rs4693608 modifies 3456M The role of Stem Cell Markers in Prostate
heparanase expression and thereby affects the Cancer Recurrence. E. Guzel.
responsiveness to broad number of treatments. O.
Ostrovsky. 3457T KEAP1 genetic polymorphisms associate
with breast cancer risk and survival outcomes. J. M.
3441M Distinct molecular signature of Giant Cell Tumor Hartikainen.
occurring in pagetic or non-pagetic patients suggests
distinct pathologic entities. F. Gianfrancesco. 3458S Rare and Common Variants Contribute to Lung
Cancer Survival in African Americans. C. C. Iverson.
3442T miR-22 supresses cell proliferation in zoledronic
acid treated glioblastoma cells by inducing autophagy 3459M Cytogenetic abnormalities of 50 AML patients
and targeting mTOR. C. Caliskan. by FISH detection and conventional karyotype
analysis. E. Karaca.
3443S MicroRNA in biofluids - Robust biomarkers for
disease. D. Andreasen. 3460T DNA methylation profiling reveals novel
diagnostic biomarkers in renal cell carcinoma. B. N.
3444M Resveratrol up-regulates tumor suppressor mir- Lasseigne.
31 expression via inhibiting histon deacetylase 1 gene
expression in chronic myeloid leukemia. C. Biray Avci. 3461S Association of LEP rs7799039 (G-2548A)
polymorphism with obesity in breast cancer patients.
3445T Association of Ile655Val polymorphism of the A. Méndez’Hernández.
HER2 gene with Neutropenia toxicity in breast cancer
patients treated with trastuzumab chemotherapy. D. I. 3462M Changes in Colorectal Carcinoma Genomes
Carrillo-Moreno. under Anti- EGFR Therapy Identified by Whole-
Genome Plasma DNA Sequencing. S. Mohan.
3446S The BIM Deletion Polymorphism Cannot
Account for Intrinsic TKI Resistance of Chinese CML 3463T Zoledronic acid treatment up-regulates miR-15a
Patients. X. Chen. via targeting antiapoptotic BCL2 gene expression in
chronic myeloid leukemia. Z. Mutlu.
3447M Association of CD44 expression before, during
and after treatment in patients with head and neck 3464S Towards a national implementation of
cancer in comparison with healthy controls. K. Chukka. DNA-based personalized cancer treatment in the
Netherlands. I. J. Nijman.
3448T PCA3 prostate cancer biomarker long non-
coding transcription unit: Transcriptional interference 3465M Integration of microarray meta-analysis
of overlapping genes. R. Clarke. with RNASeq and genome-wide genetic data to
identify variants associated with endometrial cancer
3449S Creation of an open data sharing exchange to histological subtype. T. A. O’Mara.
optimize BRCA clinical variant assessment. N. Conti.
3466T The type II transmembrane serine proteases
3450M Towards the minimal breast cancer genome hepsin and TMPRSS3 are associated with breast
and its relevance to chemotherapy. S. N. Dorman. cancer survival. M. Pelkonen.
3451T Whole exome sequencing approach in sib pairs 3467S Genetic variants in the gene ARID5B associated
identifies oligogenic germline mutations predisposing with susceptibility to childhood acute lymphoblastic
to early lung adenocarcinoma in non-smokers. E. leukemia. A. Reyes-León.
Frullanti.
3468M Cell cycle progression gene expression score
3452S Epigallocatechin-3-gallate induces apoptosis and prostate cancer outcomes in a population-based
and autophagy via up-regulation of TNF and cohort. R. Rubicz.
GABARAPL2 gene expression in chronic myeloid
leukemia cells. B. Goker. 3469T Gene expression profile of human telomere and
telomerase complex in intestinal-type gastric cancer.
3453M Hypomorphic CYP2C9 *2 and *3 alleles L. C. Santos.
associate with improved non-small-cell lung cancer
(NSCLC) prognosis. L. N. Gordon. 3470S Study of expression of AKAP4, RGS22, SPAG9
and NY-ESO-1 genes as probable diagnosis and
3454T Evaluation of miR-27a, miR-181a, and miR-570 prognosis biomarkers in colorectal cancer. A. Tavakoli
Genetic Variants with Gallbladder Cancer Susceptibility Koudehi.
and Prognosis in North Indian Population. A. Gupta.
POSTER SESSIONS 199
3471M Gene polymorphisms as risk factors for 3486M Predisposition to Burkitt Lymphoma in
Cervical Cancer in a South Indian Population. P. Williams-Beuren syndrome. D. Guenat.
Upendram.
3487T Familial Inflammatory Fibroid Polyps Syndrome
3472T Association of common Cancer stem cells (FIFPS): Phenotype much broader than having polyps.
POSTER SESSIONS
(CSCs) genes variants with gallbladder cancer J. Walia.
susceptibility and prognosis in North Indian population.
A. Yadav. 3488S High Depth HPV16 Whole Genome Sequencing
of 830 PaP Cohort Specimens using Crude Exfoliated
3473S Association of GST polymorphism with Cervical Extracts. J. Boland.
susceptibility to Leuekmia and differential
chemotherapy response. S. Caplash. 3489M Genome-wide DNA methylation patterns and
genetic ancestry in sporadic breast cancer patients
3474M BCR-JAK2 Translocation with Compleks from a Latino population. M. Cappetta.
Chromosomal Karyotype. A. Ozturk Kaymak.
3490T Routine use of massively parallel sequencing
3475T Evaluation of rapid whole-body magnetic for BRCA1 and BRCA2 diagnosis: a comprehensive
resonance as screening strategy for early cancer workflow combining PCR Multiplex and sequencing
detection in Li-Fraumeni syndrome patients. M. Achatz. chemistry on Miseq. F. Coulet.
3476S Spectrum of mutations in BRCA1 and BRCA2 3491S New genome-wide technologies and low
genes in Hereditary Breast/Ovarian Cancer families volume, archival, formalin-fixed paraffin embedded
from Algeria: current knowledge and implications in material: are the two compatible? L. M. FitzGerald.
genetic counseling and testing. F. Cherbal.
3492M Genomic sequencing reveals significantly
3477M Single-cell genetic analysis reveals insights into higher mutation load in genomes of fathers of children
clonal development of prostate cancers and indicates with de novo germline mutation in RB1 gene. A.
loss of PTEN as a marker of poor prognosis. K. M. Ganguly.
Heselmeyer-Haddad.
3493T Differential Gene Expression In Key Oncolytic
3478T Sequence variations in known cancer Pathways Observed Between Caucasian-American and
susceptibility genes identified in high-risk breast African-American Women with Triple-Negative Breast
cancer cases from the French GENESIS study. F. Cancer. J. E. Getz.
Lesueur.
3494S Shared genetic background between chronic
3479S Genome-wide association study (GWAS) for gastroesophageal reflux and Barrett’s esophagus and
transaminase elevations in pazopanib-treated patients. esophageal adenocarcinoma, consistent with a causal
X. Wang. relationship. P. Gharahkhani.
3480M Correlation among MDR1, MRP and hTERT 3495M The Kaiser Permanente Biobank: A multi-
expression level and clinical response in colon cancer region, multi-ethnic resource linking specimens and
patients. S. Sha’bani. electronic medical records for broad research in an
integrated health care delivery system. KAB. Goddard.
3481T Association of IL-1 gene Polymorphism with
HCC related to viral causes. H. A. Abdalla. 3496T Diverse types of lymphoid cancers cluster in
families. S. J. Jones.
3482S Opposite expression regulation of ATP-binding
cassette transporters (ABC) genes in leukemic cells 3497S Cancer Predisposition Genes in Whole Exome
during granulocyti maturation processes on imatinib Sequencing: How Do Findings Correlate with Cancer
therapy. L.SRA Pedroza. Histories? N. M. Lindor.
3483M Inherited NK Cell Defective Mutations in 3498M The prostate cancer risk mutation G84E in
Chinese Lymphoma Patients with HHV infection. Y. HOXB13 is associated with the subtype of ETS fusion
Zhang. negative adenocarcinoma with early age of diagnosis.
M. Luedeke.
3484T Whole genome exome sequencing to identify
novel candidates for hereditary predisposition to UM 3499T Complexities in genetic testing for allogeneic
uveal melanoma. M. H. Abdel-Rahman. bone marrow transplant recipients and patients with
hematologic malignancies. D. Mancini-DiNardo.
3485S Two novel germline BAP1 mutations in two
unrelated families with features of the BAP1 Tumor 3500S Familial lung cancer: A genetic epidemiology
Predisposition Syndrome. C. M. Cebulla. study. D. Mandal.
200 POSTER SESSIONS
3501M Identification of a novel founder 3506S PALB2 variant database - a joint collaboration
MSH2*c.705delA mutation causing colon cancer in a between LOVD and ClinVar. M. J. Landrum.
Druze population. M. Melas.
3507M Combined contribution of intermediate-risk
3502T Investigating the Genetic Basis of Breast Cancer gene rare variants and modest-risk SNP genotypes to
Disparities Using Whole Genome Sequencing and early-onset breast cancer. E. L. Young.
Parallel Computing. J. J. Pitt.
3508T Germline Next Generation Full Gene Sequencing
3503S The Genetic Testing in Epithelial Ovarian Cancer of MLH1, MSH2 and MSH6 Detects Pathogenic
(GTEOC) Study: Direct access to BRCA1/2 genetic Mutations in Cases Previously Tested Negative for a
testing in oncology. M. Tischkowitz. Germline Mutation. R. P. Graham.
3504M Insecticide Exposure Induces Leukemia- 3509S Identification of men with a genetic
Associated Gene Aberrations. M. P. Navarrete Meneses. predisposition to prostate cancer: targeted screening
of BRCA1/2 mutation carriers and controls. The
3505T A systematic approach to clinical classification IMPACT study Quality of Life Study. E. Bancroft.
of DNA sequence variants in mismatch repair genes:
the InSiGHT initiative. B. A. Thompson.
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PCR both scalable and practical. Automated droplet generation
minimizes hands-on time, eliminates user-to-user variability,
and makes every droplet count.
Learn more at bio-rad.com/info/ASHG

More breakthroughs. More discoveries. More publications.
DROPLET DIGITAL™ PCR: Selected Publications from 2014
Abdel-Wahab O et al. (2014). Maruyama Y et al. (2014).
Efficacy of intermittent combined RAF and MEK LC3B is indispensable for selective autophagy of
inhibition in a patient with concurrent BRAF- and NRAS- p62 but not basal autophagy. Biochem Biophys
mutant malignancies. Cancer Discov 4, 538–545. Res Commun 446, 309–315.
Aubert M et al. (2014). Miotke L et al. (2014).

In vitro inactivation of latent HSV by targeted High sensitivity detection and quantitation of DNA copy
mutagenesis using an HSV-specific homing number and single nucleotide variants with single color
endonuclease. Mol Ther Nucleic Acids 3, e146. droplet digital PCR. Anal Chem 86, 2618–2624.
Beaver JA et al. (2014). Oellerich M et al. (2014).

Detection of cancer DNA in plasma of patients Use of graft-derived cell-free DNA as an organ
with early-stage breast cancer. Clin Cancer Res 20, integrity biomarker to reexamine effective tacrolimus
2643–2650. trough concentrations after liver transplantation.
Ther Drug Monit 36, 136–140.
Devonshire AS et al. (2014).
Towards standardisation of cell-free DNA measurement Oxnard GR et al. (2014).
in plasma: Controls for extraction efficiency, fragment Noninvasive detection of response and resistance
size bias and quantification. Anal Bioanal Chem, May 24 in EGFR-mutant lung cancer using quantitative next-
[Epub ahead of print]. Accessed July 9, 2014. generation genotyping of cell-free plasma DNA.
Clin Cancer Res 20, 1698–1705.
Furlan D et al. (2014).
APC alterations are frequently involved in the Qin J et al. (2014).
pathogenesis of acinar cell carcinoma of the Preservation of circulating cell-free fetal RNA in
pancreas, mainly through gene loss and promoter maternal blood using a blood collection device
hypermethylation. Virchows Arch 464, 553–564. containing a stabilizing reagent.
J Mol Genet Med 8, 097.
Gu W et al. (2014).
Noninvasive prenatal diagnosis in a fetus at risk for Roberts CH et al. (2014).
methylmalonic acidemia. Genet Med 16, 564–567. Killer-cell immunoglobulin-like receptor gene linkage
and copy number variation analysis by droplet digital
Hashimoto-Torii K et al. (2014). PCR. Genome Med 6, 20.
Roles of heat shock factor 1 in neuronal response to
fetal environmental risks and its relevance to brain Shlush LI et al. (2014).
disorders. Neuron 82, 560–572. Identification of pre-leukaemic haematopoietic stem
cells in acute leukaemia. Nature 506, 328–333.
Johnson BE et al. (2014).
Mutational analysis reveals the origin and therapy- Sun B et al. (2014).
driven evolution of recurrent glioma. Science 343, Simultaneous quantification of alternatively spliced
189–193. transcripts in a single droplet digital PCR reaction.
Biotechniques 56, 319–325.
Kay MA and Walker BD (2014).
Engineering cellular resistance to HIV. N Engl J Med Takahashi K et al. (2014).
370, 968–969. Analysis of extracellular RNA by digital PCR.
Front Oncol 4, 129.
Kiselinova M et al. (2014).
Comparison of droplet digital PCR and seminested Takahashi K et al. (2014).
real-time PCR for quantification of cell-associated HIV-1 Modulation of hypoxia-signaling pathways by
RNA. PLoS One 9, e85999. extracellular linc-RoR. J Cell Sci 127, 1585–1594.
Li N et al. (2014). Tamayo E et al. (2014).

Digital PCR quantification of miRNAs in sputum for Quantification of IgM molecular response by droplet
diagnosis of lung cancer. J Cancer Res Clin Oncol 140, digital PCR as a potential tool for the early diagnosis
145–150. of sepsis. Crit Care 18, 433.
Ludlow AT et al. (2014). Tebas P et al. (2014).

Quantitative telomerase enzyme activity determination Gene editing of CCR5 in autologous CD4 T cells
using droplet digital PCR with single cell resolution. of persons infected with HIV.
Nucleic Acids Res, May 26 [Epub ahead of print]. N Engl J Med 370, 901–910.
Accessed July 9, 2014.
Yamasaki S et al. (2014).
Manoj P (2014). Generation of human induced pluripotent stem (lps)
Droplet digital PCR technology promises new cells in serum- and feeder-free defined culture and
applications and research areas. Mitochondrial DNA, TGF-β1 regulation of pluripotency.
April 29 [Epub ahead of print]. Accessed July 9, 2014. PLoS One 9, e87151.
Learn more at bio-rad.com/info/ASHG

201
EXHIBIT HALL FEATURES AND HOURS
The purpose of the exhibit program is to further the education of registrants by providing an
opportunity for exhibitors to present information on products or services relevant to registrants’
professional interests. Registrants are encouraged to view the exhibits in the Exhibit Hall of the
Convention Center during the following hours:
Sunday: 11:00 am – 7:00 pm

Monday: 10:00 am – 4:00 pm
Tuesday: 10:00 am – 4:15 pm
Products: To assist in locating specific products and services of interest, a product and
service index appears on the 2014 website and within the mobile app. This index is organized
alphabetically by products/services, followed by names of exhibiting companies offering the
product/service and their respective booth numbers. Booth numbers also follow the names of the
exhibiting companies below.
Expo Ed: Exhibit Theater

Exhibit Hall, Booth #1605
Visit the Expo Ed: Exhibit Theater and hear presentations of product findings, case studies, and
more from exhibiting companies in a quieter, smaller setting conveniently located on the Exhibit
Hall floor. Presentations will be held in 45-minute increments. Refer to page 33 for details.
Why Are Exhibits Important?
You need exhibitors and exhibitors need you! Exhibitors need your expertise and in turn, exhibi-
tors supply you with solutions. When you work with exhibitors, you aren’t working with just the
sales staff. You are engaging ASHG member scientists and their expertise while helping to cre-
ate the next wave of technology and services that better serve the field of genetics in research
and clinical applications. You’ll also see exhibitors in program-committee approved talks and
posters.
There’s no better place to see hundreds of companies’ instruments, services, solutions, and
publications than in the Exhibit Hall. Think of it as a live web search on how to make your job
more productive and compare products all under one roof in a short period of time.
EXHIBITORS
NOTES
203
FLOOR PLAN OF EXHIBIT AND POSTER AREA
Drop by booth #1236 and discover how RainDance Technologies is making Complex Genetics Simple™.
Attend our workshop to learn how we are enabling non-invasive Fluid Biopsy™ research applications
on Tuesday, 10/21 at 1pm: Room 5B, Upper Level. #LetItRain
RainDanceTech.com
VISIT THE EXHIBITS AND POSTERS
205
EXHIBITORS
Q Active Motif, Inc ........................................ 121 Q Affymetrix, Inc. ........................................ 1231
Email: rubin@activemotif.com Email: sales@affymetrix.com
URL: http://www.activemotif.com URL: http://www.affymetrix.com
Active Motif is the industry leader in developing and Affymetrix tools for translational sciences enable
delivering innovative tools to enable epigenetics whole-genome analysis through single-gene valida-
and gene regulation research. We are committed to tion across diverse sample types. Our solutions for
providing the highest quality products, services and GWAS, targeted genotyping, cancer or constitutional
support for the epigenetics research and drug dis- cytogenetics, copy number analysis, whole-transcript
covery communities and to help researchers simplify profiling, and real-time PCR reagents provide an
integrating epigenetics research into their studies. integrated view of the gene-protein-cell, for faster
translation of discoveries to treatments.
Q Adaptive Biotechnologies Corp. ............. 738
Email: info@adaptivebiotech.com Q Agilent Technologies ................................ 331
URL: http://www.adaptivebiotech.com/ Email: agilent_inquiries@agilent.com
URL: http://www.genomics.agilent.com
Adaptive Biotechnologies Corporation is a
platform-based, diagnostic-driven company that Agilent Technologies market-leading Genomics Solu-
leverages next generation sequencing (NGS) to profile tions Division provides application-focused solutions.
T-Cell and B-Cell Receptors (TCRs and BCRs). This Perform gDNA sample QC with the TapeStation
breakthrough enables in-depth characterization of the system, simplify the sequencing of clinical research
adaptive immune system. By incorporating immuno- samples from custom design to mutation report using
sequencing into clinical care, Adaptive can enhance the HaloPlex NGS target enrichment workflow, and
the diagnosis, prognosis, and monitoring of cancer examine chromosomal aberrations with CGH+SNP
patients. Arrays and SureFISH Probes.
Q Advaita Bioinformatics ............................. 624 Q Alexion Pharmaceuticals ......................... 812

Email: info@advaitacorporation.com Email: KhanN@alxn.com
URL: http://www.advaitabio.com URL: http://www.alxn.com
Advaita Bioinformatics develops advanced pathway Alexion develops and delivers life-transforming thera-
analysis applications with capabilities to integrate pies to treat severe and life-threatening diseases that
multi-omics data. While the industry still exploits are also ultra-rare. We developed Soliris® (eculizum-
typical over-representation models, Advaita’s iPath- ab), a first-in-class terminal complement inhibitor. We
wayGuide uses Impact Analysis, which considers the are investigating other product candidates, includ-
type, location and interaction between the genes from ing asfotase alfa, an enzyme replacement therapy
a systems biology perspective. This unique approach for hypophosphatasia (HPP), a severe multisystem
results in no false positives. metabolic disorder.
Q Advanced Analytical ................................. 412 Q Alpaqua Engineering, LLC ....................... 720

Email: info@aati-us.com Email: info@alpaqua.com
URL: http://www.aati-us.com URL: http://www.alpaqua.com
Want faster results? The Fragment Analyzer™, uses ALPAQUA is a global provider of tools for acceler-
capillary electrophoresis to quantify and qualify Next ating genomic applications such as NGS, nucleic
Gen Sequencing (NGS) fragment libraries by auto- acid extraction and clean up, exome capture, and
mating the separation of fragments. Additionally, the molecular diagnostics. Our products include high per-
instrument analyzes total RNA, and genomic DNA up formance magnet plates containing proprietary spring
EXHIBITORS
to 40,000 bp. Other applications include SSR/Micro- cushion technology, as well as temperature blocks,
satellites, and mutation detection (TILLiNG). SBS tube racks, and Alpillo® microplate holders.
= First time exhibitor

Shaded = Meeting Supporter
206 EXHIBITORS
Q Ambry Genetics ...................................... 1131 Q American Society of Human Genetics .. 1331
Email: info@ambrygen.com Email: society@ashg.org
URL: http://www.ambrygen.com URL: http://www.ashg.org
Located in ASHG Central in the heart of the Exhibit
Hall! Come sit in comfortable chairs, network, and
Q American Board of Medical Genetics
recharge your devices. You will also have access to
and Genomics ............................................ 1722 ASHG Membership and The American Journal of Hu-
Email: abmgg@abmgg.org man Genetics and you can learn more about ASHG
URL: http://www.abmgg.org 2015’s destination, Baltimore, Maryland. Make ASHG
Central your meeting place!
The American Board of Medical Genetics and
Genomics (ABMGG) (note new name) has been
certifying individuals in human genetics since 1981. Q Amicus Therapeutics, Inc. ........................521
We also accredit training programs in the laboratory Email: info@amicustherapeutics.com
specialties of genetics. URL: http://www.amicustherapeutics.com
Amicus Therapeutics is a biopharmaceutical com-
QAmerican College of Medical Genetics pany at the forefront of therapies for rare and orphan
and Genomics ............................................ 1724 diseases. The Company is developing novel, first-in-
Email: acmg@acmg.net class treatments for a broad range of human genetic
URL: http://www.acmg.net diseases, with a focus on delivering new benefits to
individuals with lysosomal storage diseases.
The American College of Medical Genetics and
Genomics Providing education, resources and a voice
for the medical genetics profession. Stop by our Q Analytic Jena ........................................... 1936
booth #1724 to learn more about College initiatives, Email: info@uvp.com
continuing education programs, membership and URL: http://www.uvp.com
events. Save $125 on ACMG Membership and our
annual meeting registration. Analytik Jena and UVP provide products for
life science research. Products include nucleic acid
isolation, extraction and enrichment kits, manual
Q American Heart Association .................. 1621 homogenizer and automated nucleic acid extraction
Email: exhibits@heart.org systems, standard and real-time thermal cyclers as
URL: http://www.myamericanheart.org well as UVP’s gel/blot imaging systems, hybridization
ovens, PCR hoods and ultraviolet products.
Visit the AHA booth to receive information on
AHA scientific conferences, AHA/ASA professional
membership, scientific publications, AHA’s Focus on Q Annai Systems Inc.` ...................................816
Quality Program, patient education, Connected Heart Email: info@annaisystems.com
Health and much more. Learn how you can join more URL: http://www.annaisystems.com
than 30,000 professional members and receive more
benefits than ever! At Annai Systems, we are changing the way the “big
data” of genomics is handled. Our System improves
the value of genomic data through secure manage-
Q American Journal of Human Genetics . 1333 ment, high-speed transfer, discovery and access to
Email: ajhg@ajhg.net normalized high value data sets, creating a worldwide
URL: http://www.ajhg.org data exchange network.
The American Journal of Human Genetics (AJHG)

provides a record of research and review relating to Q ApolloGen, Inc............................................215
heredity in humans, and the application of generic ApolloGen is a clinical diagnostic company that
principles in medicine and public policy, and related offers physicians and individuals with actionable
areas of molecular and cell biology, behavioral, mo- genetic sequencing results on risk prediction
lecular, biochemical, population, and clinical genetics. panels, major disease panels, mini-exome panel,
AJHG celebrates 65 years in 2014! Stop by the booth and single gene tests. ApolloGen is dedicated to help
in ASHG Central to get your commemorative lanyard. individuals and their families make personalized and
informative decisions about their diagnosis and health
management.

EXHIBITORS 207
Q Appistry ......................................................814 Q Artel.......................................................... 1122
Email: jamieh@appistry.com Email: info@artel-usa.com
URL: http://www.appistry.com/ URL: http://www.artel-usa.com
Appistry, Inc., brings the power of genomics to next- Artel is the world-leading liquid handling quality as-
generation medicine by making genomics data easier surance expert, specializing in solving liquid handling
for researchers and clinicians to act on. Appistry’s quality, productivity and compliance challenges for
world-class tools, software, and cloud services laboratories. Our customers include clinical, diag-
streamline the development and implementation of nostic and biotechnology companies and regulatory
NGS analysis pipelines and make genomics tests bodies, as well as laboratories in the pharmaceutical,
easier to access. university, forensic, public health and environmental
sectors.
Q Applied Spectral Imaging, Inc. .................231
Email: sales-inc@spectral-imaging.com Q ARUP Laboratories ................................. 1923
URL: http://www.spectral-imaging.com Email: christina.m.sellers@aruplab.com
URL: http://www.aruplab.com/genetics
Applied Spectral Imaging (ASI) makes patient care
better through advanced biomedical microscopy im- The ARUP Genetics Division provides a comprehen-
aging. The GenASIs automated imaging platforms for sive test menu in the disciplines of molecular genet-
genetic and pathological analysis provide state of the ics, cytogenetics, FISH, maternal serum screening,
art diagnostic aids for cytogeneticists and patholo- genomic microarray, and biochemical genetics. We
gists. GenASIs platforms enable automated tissue continuously expand our test menu as new proce-
analysis for primary diagnostics, with reproducible dures and markers of clinical utility are identified.
and reliable results. GenASIs Hyperspectral with Genetic counselors are available for consultation and
HiSKY Probes provide superb biomedical analyses interpretation.
surpassing the abilities of normal human vision.
Q ASHG/FASEB Career Resources ........... 1533
QAriosa Diagnostics ................................. 1138 Email: clientserv@jobtarget.com
Email: ClientServices@ariosadx.com URL: http://careers.faseb.org
URL: http://www.ariosadx.com
The Career Resources Booth operated by FASEB and
Ariosa Diagnostics, Inc. is a leading global molecular ASHG is located next to the Professional Develop-
diagnostics company committed to improving overall ment Theater and offers career guidance, interview
patient care. Our Harmony™ Prenatal Test is a blood tips, resume/CV critiques, one-on-one coaching (by
test for any pregnant woman that can be used as appointment only), and more. Employment Boards
early as ten weeks into pregnancy to assess the will be available in this area for viewing and posting
risk of fetal trisomies, providing reliable information positions.
through directed analysis of cell-free DNA.
Q Association for Molecular Pathology.... 1924
QArraystar Inc............................................ 1237 Email: amp@amp.org
Email: marcr@arraystar.com URL: http://www.amp.org
URL: http://www.arraystar.com
AMP’s 2,000+ members include individuals from
Arraystar provides integrated sample to data academic and community medical centers, govern-
microarray and next generation sequencing services, ment, and industry; including, basic and translational
along with many key reagents and kits. Our microar- scientists, pathologist and doctoral scientist labora-
ray profiling services include LncRNA (long non-cod- tory directors, medical technologists, and trainees.
ing RNA), gene expression, MeDIP-chip, ChIP-chip, AMP is International with members in more than 45
piRNA, LncRNA Promoter, pathway focused, disease countries. Stop by and enter to win a free year of
specific, and custom-designed microarrays. Our high- membership!
throughput sequencing services include LncRNA,
EXHIBITORS
mRNA, microRNA, MeDIP-seq & ChIP-seq services.

208 EXHIBITORS
Q ASURAGEN, INC. .......................................213 Q Baylor College of Medicine, Medical
Email: tradeshows@asuragen.com Genetics Laboratories............................... 631
URL: http://www.asuragen.com Email: medgen@bcm.tmc.edu
Asuragen is a fully integrated molecular diagnostics URL: http://www.bcmgeneticlabs.org
company using genomics to drive patient manage- Baylor College of Medicine, Medical Genetics
ment. We offer diagnostic products and clinical Laboratories offer a broad range of diagnostic genet-
laboratory testing services focused on innovative ics tests including DNA diagnostics, sequencing,
PCR-based approaches for fragile X testing (FMR1 cytogenetics, FISH diagnostics, cancer cytogenet-
gene), including AmplideX® CGG repeat analysis, ics, chromosomal microarray analysis, whole exome
mPCR analysis for detection of FMR1 methylation sequencing, biochemical genetics, prenatal diagnos-
status, and Xpansion Interpreter® for determination of tics and screening, and Mitochondrial DNA analysis.
AGG interruption status. Please visit our booth for more information.
Q AutoGen, Inc. .............................................713 Q B. Braun CeGaT, LLC. ............................. 1831

Email: info@autogen.com Email: genetics.us@bbraun.com
URL: http://www.autogen.com URL: http://www.bbrauncegat.com
AutoGen is now the sole supplier of consumables to B. Braun CeGaT LLC, a genetic diagnostic
the worldwide QIAGEN Autopure LS installed base. laboratory, specializes in utilizing next generation
Our FLEX STAR is the direct replacement to aging sequencing technology to discover the cause of an
Autopures and features positive sample tracking and individual’s disease at the molecular level. Using that
the processing capacity you need for real productiv- information, we are able to pinpoint a diagnosis, help
ity. It uses Qiagen’s FlexiGene reagents to produce guide treatment decisions, and improve patient care
high quality, high molecular weight DNA. Visit us in and outcomes.
booth 713.
Q BC Platforms Ltd .......................................630

QAyasdi .........................................................223 Email: info@bcplatforms.com
Email: laurie@ayasdi.com URL: http://www.bcplatforms.com
URL: http://Ayasdi.com BC Platforms develops clinical and genomic data
integration and analysis software. Our software is
Ayasdi is transforming how the world uses data
used in genomic research, genetic counseling, phar-
to solve complex problems by automatically discov-
macogenomics research, preventive and personalized
ering insights from complex datasets. The Ayasdi
medicine, and biobanking. The company, headquar-
Platform merges the results of hundreds of machine
tered in Finland, was founded in 1997 and today
learning algorithms using Topological Data Analysis
we serve a wide international customer base in 18
(TDA), enabling users to explore their data within
different countries.
interactive applications.
Q Beckman Coulter Genomics.................. 1312

QAzco Biotech, Inc. ......................................217
Email: ebland@beckman.com
Email: sales@azcobiotech.com
URL: http://www.beckmangenomics.com
URL: http://www.azcobiotech.com
Beckman Coulter Genomics specializes in next gen-
Azco Biotech, a premier supplier of products for
eration and Sanger sequencing services across the
nucleic acid synthesis and sequence detection.
Illumina HiSeq 2000/2500, Roche 454 FLX, and ABI
Products include solutions for capillary and second
3730XL sequencing platforms supporting life science,
generation sequencing, DNA/RNA synthesizers
healthcare and the biopharma industries worldwide.
including the OligoArray capable of synthesizing up to
Applications supported include exome and targeted
8 microarray chips simultaneously with up to 94,000
resequencing, RNA-Seq, genome sequencing, geno-
probes per chip. We also provide world class service.
typing, and expression analysis.

EXHIBITORS 209
Q Beckman Coulter, Inc. ...............................238 Q BioDiscovery, Inc. ......................................836
Email: donna.gorman@beckman.com Email: customerservice@biodiscovery.com
URL: http://www.beckmancoulter.com URL: http://www.biodiscovery.com
Beckman Coulter Life Sciences provides a comprehen- BioDiscovery develops advanced software solutions
sive set of genetic analysis applications, from quantita- for the analysis of data from high-throughput microar-
tive multiplex gene expression to sequencing and frag- ray and next-generation sequencing (NGS) technolo-
ment analysis. Our solutions are uniquely designed to gies and provides a full line of modular software
simplify and automate genomic analysis processes and packages built for power, versatility, and efficiency
accelerate the identification of new markers in the fields spanning image analysis, data processing, and ad-
of biological, diagnostic and therapeutic research. vanced analysis of CNV, expression, methylation, and
sequence variation data.
Q BGI Tech .....................................................830
Email: info@bgitechsolutions.com Q BioFire Defense .........................................634
URL: http://www.bgitechsolutions.com Email: cameron.gundry@biofiredefense.com
BGI Tech, a subsidiary of BGI - the world’s largest URL: http://www.biofiredefense.com
genomics organization, provides sequencing and The LightScanner is the first system to use Hi-Res
bioinformatics service solutions for global custom- Melting™ (also known as High Resolution Melting, or
ers in biomedical, agricultural, and environmental HRM) analysis for mutation scanning and genotyping
areas. Equipped with the industry’s broadest array of in 96- or 384-well plate system. Standardization is
cutting-edge technologies, BGI Tech delivers rapid, important for research, making the plate format pref-
cost-effective, and high-quality results that enable erable in many settings. It is compatible with nearly all
researchers to achieve scientific breakthroughs. thermal cyclers and qPCR machines.
Q Bina Technologies .................................. 1919

Q BioMarin Medical Affairs ...........................539
Email: sales@binatechnologies.com
Email: kward@bmrn.com
URL: http://www.binatechnologies.com
URL: http://www.bmrn.com
Bina Technologies is defining the standards of high-
BioMarin develops and commercializes innovative
performance genomic analysis. Bina’s integrated, scal-
biopharmaceuticals for serious diseases and medical
able, and comprehensive analysis platform empowers
conditions. Approved products include the first and
clinical and academic researchers to gain insight from
only medications for PKU and LEMS, and the first
their genomics data sets. Bina’s products dramatically
and only enzyme replacement therapies for MPS I,
decrease the complexity, time, and cost of the analy-
MPS VI and Morquio A syndrome.
sis, accelerating the science of personalized medicine.
Q BIOBASE Corporation ...............................323 Q BioMarin Pharmaceutical Inc. ..................439

Email: info@biobase-international.com Email: kward@bmrn.com
URL: http://www.biobase-international.com URL: http://www.bmrn.com
BIOBASE, a QIAGEN company, headquartered BioMarin develops and commercializes innovative
in Wolfenbüttel, Germany, is a leading provider of biopharmaceuticals for serious diseases and medical
manually-curated biological databases and software conditions. Approved products include the first and
for the life sciences. BIOBASE’s array of products in- only medications for PKU and LEMS, and the first
cluding HGMD®, Genome Trax™ and PGMD™ offers and only enzyme replacement therapies for MPS I,
a well-structured data, assembled by highly qualified MPS VI and Morquio A syndrome.
subject-matter experts, organized in an accessible
and easily searchable manner.
Q BioMicroLab ............................................ 1041
Email: info@biomicrolab.com
Q BioDatomics ............................................ 1219
URL: http://www.biomicrolab.com
Email: info@biodatomics.com
EXHIBITORS
URL: http://www.biodatomics.com/ BioMicroLab is an innovator of drug discovery

productivity tools for researchers. We offer affordable
BioDatomics BioDT NGS data analysis platform benchtop sample management automation systems
increases biologist and bioinformatician productivity for: (1) volume inventory management, (2) sorting,
by executing pipelines up to 100 times faster and by capping, decapping, and weighing test tubes, (3)
providing actionable insights more intuitively. BioDT, automated liquid handling systems, (4) tube and vial
available in both data center license and cloud-based print and apply labeling, and (5) 2D barcode decoding.
service versions, is an open source platform based on
the Hadoop Big Data analysis engine.

210 EXHIBITORS
Q BioNano Genomics, Inc. ...........................731 Q Blueprint Genetics .....................................220
Email: info@bionanogenomics.com Email: juha.koskenvuo@blueprintgenetics.com
URL: http://www.bionanogenomics.com URL: http://www.blueprintgenetics.com
BioNano Genomics Irys platform provides unprec- Blueprint Genetics provides NGS-based genetic
edented understanding of whole-genome biology. diagnostics of rare diseases. Our patented targeted
Genome maps are generated from massively parallel sequencing method, OS-Seq™, enables us to pro-
single-molecule visualization of extremely long DNA, vide high quality service with competitive prices. In
and provide the long-range contiguity critical for de only 21 days, we provide a full service with sequenc-
novo sequence scaffolding. Structural variants and ing, bioinformatics analysis, Sanger confirmation and
repeats are directly measured within long reads for a comprehensive statement made by our geneticists
comprehensive genome analysis. and clinicians.
Q Bioo Scientific ............................................939 Q Broad Institute Genomics Platform ...... 1215

Email: info@biooscientific.com Email: genomics@broadinstitute.org
URL: http://www.biooscientific.com The Broad Institute Genomics Platform provides
comprehensive genomic services and continues to
Bioo Scientific provides innovative solutions for next push genomic technology through the application of
generation sequencing library prep. These solutions operational excellence, advanced process design and
include our NEXTflex kits, which offer improved quan- data analysis. Our offerings include Clinical (CLIA),
titation, increased sensitivity, flexibility and speed for Whole Genome, Human Exome and RNA Sequenc-
NGS library preparation. DNA-seq, ChIP-seq, Methyl- ing in addition to Genotyping and a range of custom
seq, and RNA-seq kits are available with up to 192 services.
barcoded adapters.
Q Cartagenia ............................................... 1132

QBio-Rad .................................................... 1937
Email: info@cartagenia.com
Email: lsg.orders.us@bio-rad.com
URL: http://www.cartagenia.com
URL: http://www.discover.bio-rad.com
Cartagenia helps labs to confidently interpret, report
Depend on Bio-Rad for tools, technologies and and share genomic variants. Reduce turnaround time,
expertise to enable genomic & proteomic analysis. build informed variant assessment pipelines, generate
Bio-Rad provides instrumentation and reagents for clinical grade lab reports, and manage increasing
droplet digital PCR, conventional and real-time PCR, volumes of data. Bring together CNVs and molecular
amplification reagents and primers, flow cytometry, variation. Use clinical phenotypes. Assess genes,
cell counting, fluorescent cell imaging, transfection, panels, exomes and genomes - postnatal, prenatal,
electrophoresis, blotting-systems, chromatography, constitutional, and somatic.
and imaging.
Q Cell Press ................................................ 1425

QBiosearch Technologies, Inc.....................431
Email: usinfo-f@elsevier.com
Email: yasmine@biosearchtech.com
URL: http://www.cell.com
URL: http://www.biosearchtech.com
Cell Press publishes The American Journal of Human
Biosearch Technologies, Inc. is a manufacturer of so- Genetics, the premier journal of the American Society
phisticated oligonucleotides, including Dual-Labeled of Human Genetics. Visit booth 1425 to learn more
BHQ Probes for real-time and multiplex qPCR appli- about this exciting partnership and ASHG member
cations. Biosearch also offers Stellaris FISH Probes, discounts on journals including Cell.
providing a means to localize, detect, and quantify
RNA in situ. Pre-designed probe sets and free online
design for custom probe sets are also available.

EXHIBITORS 211
Q ChunLab, Inc. .............................................139
Q Center for Inherited Disease Research
Email: jtan@chunlab.com
(CIDR) ......................................................... 1723
URL: http://www.chunlab.com
Email: kimkutchins@jhmi.edu
URL: http://www.cidr.jhmi.edu As a leader in bioinformatics, ChunLab offers a
suite of sophisticated yet easy to use software solu-
The Johns Hopkins University Center for Inherited tions for next generation sequencing that are each
Disease Research (CIDR) provides high quality next designed for a specific research discipline: metage-
generation sequencing and genotyping services to nomics, genomics and transcriptomics. With Chun-
investigators working to discover genes that contrib- Lab’s point and click software tools, it’s like having a
ute to disease. CIDR offers custom targeted, whole bioinformatics team directly on your desktop.
exome and whole genome sequencing services
as well as GWAS, custom, epigenetic and linkage
genotyping. Q CIHR Institute of Genetics ..................... 1619
URL: http://www.cihr.gc.ca/e/13147.html
Q Centogene AG ......................................... 1220 The CIHR Institute of Genetics supports research on
Email: info@centogene.com the human and model genomes and on all aspects of
URL: http://www.centogene.com genetics, basic biochemistry and cell biology related
to health and disease, including the translation of
CENTOGENE is a world leader in the field of genetic knowledge into health policy and practice, and the
diagnostics for rare hereditary disorders. We support societal implications of genetic discoveries.
medical professionals worldwide with advanced
genetic testing services, providing high quality reports
to make the right decisions for your patients. CEN- Q City of Hope Clinical Molecular
TOGENE holds multiple accreditations including ISO, Diagnostic Laboratory .............................. 1825
CAP, and CLIA. Email: mdl@coh.org
URL: http://cmdl.cityofhope.org
Q chemagen from PerkinElmer, Inc. ............813 The City of Hope Molecular Diagnostic Laboratory
Email: CustomerCareUS@perkinelmer.com (CMDL) specializes in clinical genetic testing services
URL: http://www.PerkinElmer.com for cancer predisposition, coagulopathies, connective
tissue disorders, muscular dystrophies, neuropsychi-
chemagen- a leading supplier of automation/reagents atric disorders and pharmacogenetics. We are a CLIA
for fast, reliable magnetic bead based DNA/RNA and CAP reference laboratory since 1994. For more
extraction for sample volumes from 10 ul to 10 ml for up-to-date information about our tests, please visit
blood, tissues, saliva, bacteria, food, PCR products. our website.
All functions can be performed on one instrument.
Advantages of this unique system are fast process-
ing, unmatched sample volume range and robust Q Claritas Genomics .................................. 1032
chemistry. Email: info@claritasgenomics.com
URL: http://www.claritasgenomics.com
Q Chroma/89 North .....................................2018 Claritas Genomics is a genetic diagnostic
Email: sales@chroma.com laboratory that has the goal of providing the highest
URL: http://www.chroma.com quality testing services for diagnosis of pediatric
disorders. We are partnering with pediatric hospitals
Chroma specializes in the design and manufacture of to promote sharing of infrastructure in genetic testing,
precision sputtered optical filters and coatings. We data for research, expertise, and best practices.
provide the greatest accuracy in color separation,
optical quality and signal purity for applications such
as low-light fluorescence microscopy and cytometry; Q Cold Spring Harbor Laboratory Press . 1325
spectrographic imaging in optical microscopy; laser- Email: mazzullo@cshl.edu
based confocal and multi-photon instrumentation; URL: http://www.cshlpress.org
EXHIBITORS
and Raman spectroscopy.

Cold Spring Harbor Laboratory continues to shape
contemporary biomedical research and education
with programs in cancer, neuroscience, plant biology,
and quantitative biology. Its Meetings & Courses pro-
gram hosts more than 8,000 scientists from around
the world each year and its Press publishes books,
journals, and electronic media for scientists, students,
and the general public.

212 EXHIBITORS
Q Columbia University Medical Center .... 1623 Q Cypher Genomics ................................... 1525
URL: http://www.cumc.columbia.edu URL: http://www.cyphergenomics.com
The Laboratory of Personalized Genomic Medicine Cypher Genomics, the genome informatics company,
of the Department of Pathology and Cell Biology is a provides solutions for users of human genome se-
state-of-the-art diagnostic laboratory which performs quencing. Mantis™, a genome interpretation software
cutting-edge tests in the areas of genetics, oncology, as a service, and Coral™, a biomarker discovery
cytogenomics, and molecular microbiology. The labo- service, can improve healthcare and reduce costs by
ratory is accredited by CLIA, the College of American facilitating improved diagnostic accuracy and earlier
Pathologists and the Clinical Laboratory Evaluation interventions, optimizing therapeutic approaches and
Program of NY State DOH. reducing adverse drug reactions.
Q CombiMatrix Diagnostics ...................... Q Cytocell .......................................................322

Email: info@cmdiagnostics.com Email: info@ogt.com
URL: http://www.cmdiagnostics.com URL: http://www.ogt.com
CombiMatrix is a clinical diagnostic laboratory spe- Cytocell celebrates more than 20 years as a leading
cializing in cytogenomic testing for prenatal diagno- provider of fluorescence in situ hybridization (FISH)
sis, miscarriage analysis, and pediatric developmental probes for the accurate detection of human genetic
disorders. As a full-scale cytogenetic and cytoge- diseases. With over 430 different products, Cytocell
nomic laboratory, CombiMatrix offers chromosomal provides a comprehensive range FISH probes for
microarray analysis, standard and customized FISH, use in clinical cytogenetics. For more information
and high resolution karyotyping to help clinicians bet- about our products for oncology and constitutional
ter care for their patients. genetics, plus our custom probe design service, visit
www.cytocell.com. Cytocell, now part of Oxford Gene
Technology.
Q Connective Tissue Gene Tests .............. 1021
Email: inquiries@ctgt.net
URL: http://www.ctgt.net Q DeNovix Inc. ...............................................534
Email: info@denovix.com
CTGT is committed to providing the broadest range
URL: http://www.denovix.com
of molecular diagnostic tests for inherited connec-
tive tissue disorders over 330 tests and still growing. DeNovix Inc. (Wilmington, DE) is an instrumenta-
CTGT has high test sensitivity, fast turnaround time, tion company that designs, manufactures, and sells
expert advice and superior customer service. laboratory equipment for life science applications.
Our products include the DS-11 Spectrophotometer,
a stand-alone micro-volume spectrophotometer
Q Coriell Institute for Medical Research .. 1223
for quantification of nucleic acids and proteins. The
Email: ccr@coriell.org DS-11 features an Android based OS, hi-res touch
URL: http://ccr.coriell.org screen, as well as Wi-Fi, Ethernet, and USB con-
nectivity.
Coriell Institute is an independent, non-profit bio-
medical research center based in Camden, New
Jersey. Founded in 1953, the Institute pioneers Q Diagenode Inc ............................................315
research in personalized medicine and iPS cells. The Email: infousa@diagenode.com
Coriell Biobank contains the most diverse collection
URL: http://www.diagenode.com
of highly-characterized, quality cell lines, DNA, RNA
and biofluids, along with rich phenotypic data. Diagenode, the leading provider of complete solu-
tions for epigenetics research, offers innovative
shearing and automation instruments, reagent kits,
Q Covaris Inc. ................................................336
and high quality antibodies to streamline DNA meth-
Email: info@covarisinc.com ylation, ChIP, and ChIP-seq workflows. Our latest
URL: http://www.covarisinc.com innovations include a full automation system, ChIP-
seq kits for only 10,000 cells, and the industry’s most
Covaris provides advanced sample preparation
validated antibodies.
systems for life/analytical sciences. Covaris supports
formulations applications including, nanosuspen-
sions, nanoemulsions crystallization and liposome
creation. AFA technology brings unsurpassed speed
and efficiency to sample preparation. AFA is based
on shock wave physics, delivering controlled, precise,
and accurate acoustic energy to biological and
chemical samples.

EXHIBITORS 213
Q Diploid ...................................................... 1833 Q Douglas Scientific ................................... 1909
Email: info@diploid.com Email: jill.walerius@douglasscientific.com
URL: http://www.diploid.com URL: http://www.DouglasScientific.com
Diploid offers human genome interpretation as a
service to genetic departments and commercial labs.
Q Edico Genome Inc. ....................................632
Based on your NGS data and a phenotype descrip-
tion, an extensive report listing the suspected causal Email: info@edicogenome.com
variants is delivered to you within 12 business days. URL: http://www.edicogenome.com
Stop by our booth for a free exome analysis.
Edico Genome is developing DRAGEN, the
world’s first “in-sequencer” NGS bio-it processor that
Q DNA Genotek .............................................113 radically reduces the computational cost of the NGS
Email: info@dnagenotek.com data analysis pipeline by replacing expensive serv-
ers and associated operational costs. DRAGEN can
URL: http://www.dnagenotek.com
analyze 50 whole genome sequences, from FASTQ to
DNA Genotek provides high-quality biological sample VCF, with improved accuracy in less than a day.
collection, stabilization and preparation products for
human genetics, microbiology and animal genetics.
Q Edimer Pharmaceuticals ...........................239
The company’s products protect and stabilize mul-
tiple sample types for long-term storage at ambient Email: info@edimerpharma.com
temperature to ensure the highest quality results for URL: http://www.xlhednetwork.com
genetic analysis and testing.
Edimer Pharmaceuticals is dedicated to developing
EDI200 as a treatment for X-linked Hypohidrotic Ec-
Q DNA Link USA Inc. .....................................237 todermal Dysplasia (XLHED). XLHED is a rare genetic
Email: clientcareusa@dnalink.com condition that causes symptoms including lack of
sweat glands, poor temperature control, respiratory
URL: http://www.dnalink.com
problems, and hair and tooth malformations. Learn
A full service sequencing and bioinformatic more about enrollment into our clinical trials at http://
service provider supporting research, medical, agri- www.xlhednetwork.com/clinical-trial.php.
cultural, and environmental clients across the world.
By providing the right amount of experimental design
Q Elsevier .................................................... 1423
and optimal next generation sequencing technolo-
gies, we achieve a high level of expertise that is Email: usinfo-f@elsevier.com
demanded by our customers. DNA LINK USA, Your URL: http://www.elsevier.com
Link To Precision Genomics.
Explore Elsevier’s quality content in genetics. Learn
the latest in research from journals such as European
Q DNAnexus, Inc. ....................................... 1114 Journal of Medical Genetics and open access jour-
Email: info@dnanexus.com nals, Applied and Translational Genomics and Meta
Gene. Our exciting books include Transgenerational
URL: http://www.dnanexus.com
Epigenetics, Principles of Developmental Genetics,
DNAnexus provides a comprehensive genomics data Epigenetics in Psychiatry, and more. Discover our
management platform for scientific organizations that electronic research and solution tools on ScienceDi-
need to analyze, store, and share genomic informa- rect!
tion. Unlike traditional local-servers or cloud-based
do-it-yourself approaches, DNAnexus offers an easy
Q Embi Tec .................................................. 1113
path to the economic, security, and scalability advan-
tages of the cloud for genomics data. Email: inquiry@embitec.com
URL: http://www.embitec.com
Q DNASTAR, Inc. ...........................................418 Embi Tec manufactures and distributes equipment for
Email: info@dnastar.com the modern-day lab: The ultra-compact RunOne Elec-
EXHIBITORS
trophoresis System with built-in power supply, Mul-

URL: http://www.dnastar.com
tiCaster Systems for casting agarose gels, ViewOne
DNASTAR has pioneered development of desktop LabLite for backlighting samples, LightOne Illuminator
computer and cloud sequence assembly and analysis pipette-aids for error-free 96/384-well setup and the
software to increase life scientists’ productivity PrepOne Sapphire for direct visualization of DNA gels
for over 25 years. DNASTAR’s products include without UV.
Lasergene software for traditional sequence analysis,
next-generation DNA and RNA sequence assembly
and analysis, and protein sequence and structure
visualization.
214 EXHIBITORS
Q EMD Millipore .......................................... 1120 Q EpigenDx, Inc .............................................737
Email: customersupport@emdmillipore.com Email: info@epigendx.com
URL: http://www.emdmillipore.com URL: http://www.epigendx.com
EMD Millipore is the Life Science division of Merck EpigenDx is a leading epigenomic research company
KGaA, Germany, supporting research, development dedicated to providing superior products and labora-
and production of biotech and pharmaceutical thera- tory services. Our technical expertise and focus on
pies. We support our customers with technologies quality and rapid turnaround time have made us a de-
for insightful cellular analysis, multianalyte network pendable partner to our customers worldwide since
elucidation and functional genomics, including novel 2006. Services include targeted gene DNA methyla-
SmartFlare™ probes for RNA detection in live cells. tion analysis using Pyrosequencing and NextGen
Sequencing.
Q Emory Genetics Laboratory ......................912
URL: http://www.geneticslab.emory.edu Q Epigentek Group Inc..................................141
Email: info@epigentek.com
Emory Genetics Laboratory (EGL) is an academic,
not-for-profit organization and a global leader in URL: http://www.epigentek.com
genetic testing. Associated with the prestigious Epigentek is the leading provider of epigenetic assay
Emory University School of Medicine, EGL has fully kits, antibodies, reagents, and services through a
integrated biochemical, cytogenetics, and molecular complete and systematic approach. It is the first and
laboratories, employing the latest technologies for only company to specialize exclusively in epigenetics
one of the most comprehensive genetic test menus and has pioneered the commercialization of many
available. technologies commonly used today in DNA methyla-
tion, histone modification, and chromatin studies.
Q Enzo Life Sciences, Inc. ............................133
Email: Info-usa@enzolifesciences.com Q European Human Genetics
URL: http:///www.enzolifesciences.com Conference 2015........................................ 1625
Enzo Life Sciences, Inc. is organized to lead in the Email: fvanlaer@rose-international.com
development, production, marketing, and sales of URL: http://www.eshg.org/eshg2015
innovative life science research reagents worldwide. The European Human Genetics Conference 2015 will
Our experience spans 30 years focused on build- be held in Glasgow, United Kingdom from June 6 -
ing strong international market recognition. We are a June 9, 2015. Please visit our booth for more informa-
proven leader in labeling and detection technologies tion and ESHG membership application. To view the
across research and diagnostic markets. conference program, details on abstract submission,
and for online registration visit our website.
Q Enzymatics, Inc. .........................................837
Email: mabraham@enzymatics.com Q Expression Analysis ..................................918
URL: http://www.enzymatics.com URL: http://www.expressionanalysis.com
Enzymatics is a leading producer of sample prepara- EA provides cutting-edge genomic sequencing, gene
tion reagents, assays, kits and software for life sci- expression, genotyping, and bioinformatics services
ence research and applied science customers world- to global pharmaceutical companies, diagnostic test
wide. We are experts in the fields of DNA sequencing developers, government agencies, and academic
and PCR, and our business units include: Reagents, labs. EA conducts every project under clinical-grade
Supply Chain Solutions, and NGS Sequencing Ap- quality control and offers the bioinformatics exper-
plications. tise and computational infrastructure to process
enormous volumes of genomic data with consistency
and speed.

EXHIBITORS 215
Q FDNA Inc.................................................. 1035 Q FSHD Champions ................................... 1818
Email: shiry@fdna.com Email: june.kinoshita@fshsociety.org
URL: http://www.fdna.com URL: http://www.fshsociety.org
FDNA’s mission is to save lives and improve We are a federation of organizations from around the
the quality of life of patients with rare or difficult-to- world working together to raise awareness and fund-
diagnose genetic syndromes. FDNA has developed ing for research on facioscapulohumeral muscular
the proprietary Facial Dysmorphology Novel Analysis dystrophy (FSHD).
(FDNA) technology. This cutting-edge technology
facilitates the detection of facial dysmorphic features
Q Fulgent Diagnostics...................................638
and recognizable patterns of human malformations
from facial photos. Email: info@fulgentdiagnostics.com
URL: http://www.fulgentdiagnostics.com
Q Fluidigm Corporation ............................. 1123 Fulgent Diagnostics is dedicated to providing supe-
Email: events@fluidigm.com rior, comprehensive, low cost and fast turnaround
molecular genetics testing for healthcare providers
URL: http://www.fluidigm.com
and pharmaceutical clients. We offer clinical exome
and over 100 disease-focused panels using next
generation technologies for common or rare genetic
Q FLUIDX ..................................................... 1836
disorders.
Email: elise.williams@fluidx.us
URL: http://www.fluidx.eu
Q GE Healthcare ............................................520
FluidX sells specialized storage and tracking Email: cynthia.corbett@ge.com
products we were the first to introduce 2D-Coded
URL: http://www.clarientinc.com
Tubes back in 1999 and then introduced the world’s
very first reader capable of reading a whole rack of GE Healthcare, Biopharma Services provides expert
96 tubes. We now offer a very comprehensive range research services, biomarker discovery, assay
of 2D coded tubes, bar code readers, and unique development as well as clinical trial testing solutions
decapper/recapper units. to its academic, biotechnology and pharmaceutical
partners. From discovery through submission, we
offer services ranging from next-generation sequenc-
Q Fluxion Biosciences ..................................940
ing to state-of-the-art pathology testing in our clinical
Email: info@fluxionbio.com laboratories, including full data analytics to capture
URL: http://www.fluxionbio.com the complete biopicture.
Fluxion Biosciences provides cell analysis tools
for use in life science, drug discovery, and diagnostic Q GENALICE ............................................... 2032
applications. The IsoFlux System provides a platform Email: anneloes.lubbinge@genalice.com
for running genomic analysis, including NGS and
URL: http://www.genalice.com
qPCR, starting with only a blood sample. For more
information about Fluxion Biosciences, visit www. GENALICE is a highly innovative biomedical big
fluxionbio.com. data company, with global headquarters in the Neth-
erlands. GENALICE designs and builds groundbreak-
ing software solutions for ultra-fast, highly accurate
Q Formulatrix .................................................739
and cost-effective DNA data processing and analysis
Email: washer@formulatrix.com on general purpose hardware.
URL: http://www.formulatrix.com
Formulatrix, Inc. is excited to announce our digital Q Gene by Gene, LTD. ...................................620
PCR and quantitative PCR technology and debut it at Email: sales@genebygene.com
ASHG. Formulatrix, Inc. was established in 2002 to
URL: http://www.genebygene.com/
provide protein crystallization automation solutions
EXHIBITORS
and microfluidic liquid handlers to commercial and Gene By Gene delivers cutting-edge genetic testing
academic labs worldwide. services with a state-of-the-art, CAP accredited
laboratory and powerful bioinformatics. With products
ranging from clinical carrier screening and whole
exome sequencing to ancestry and genealogy tests,
Gene By Gene has the answers to your genetic test-
ing needs.

216 EXHIBITORS
Q Gene Codes Corporation ..........................717 Q Gene Tests ............................................... 316
Email: info@genecodes.com Email: msansing@bioreference.com
URL: http://www.genecodes.com URL: http://www.genetests.com
Gene Codes Corporation develops Sequencher®, GeneTests, an online medical genetics information
DNA sequence analysis software for Sanger and resource comprises: a Laboratory Directory of > 600
NGS data sets. Scientists all over the world rely on international laboratories offering molecular genetic
Sequencher’s intuitive user interface, impressive array testing, biochemical genetic testing, and specialized
of alignment algorithms, and powerful SNP discovery cytogenetic testing for > 3000 inherited disorders,
tools to deliver results. The latest release of Se- and a Clinic Directory of >1000 international genetics
quencher will redefine how you analyze data. clinics providing diagnosis and genetic counseling
services.
Q GeneDx .......................................................522
Email: genedx@genedx.com Q Genetic Engineering & Biotechnology
URL: http://www.genedx.com News ........................................................... 1112
Email: smccarthy@liebertpub.com
GeneDx is highly respected laboratory specializing in
genetic testing for rare Mendelian disorders. GeneDx URL: http://www.genengnews.com
offers sequencing and deletion/duplication testing for Genetic Engineering and Biotechnology News (GEN)
inherited cardiac disorders, mitochondrial disorders, is the longest-running, most widely read, and largest
neurological disorders, inherited cancer disorders, circulated global biotechnology news publication.
prenatal disorders, and other rare genetic disor- Published 21 times a year and recently redesigned to
ders. GeneDx also offers whole exome sequencing, focus on Biobusiness, OMICS, Drug Discovery, Bio-
next-generation, and microarray-based testing. Visit processing, and Translational Medicine, GEN reports
GeneDx.com on key news developments and technology trends in
the bioindustry.
Q GeneInsight ............................................. 1622
Email: info@geneinsight.com Q Genetic Information Management
URL: http://www.geneinsight.com Systems ...................................................... 1214
GeneInsight Suite is an IT platform developed at
Email: info@gimscorp.com
Partners HealthCare to streamline the analysis, inter- URL: http://www.gimscorp.com
pretation and reporting of complex genetic data and The LabDirector laboratory information system
facilitates delivery of test results to treating clinicians. delivers a suite of powerful and innovative tools
The application consists of a laboratory knowledge for managing the complex data and workflows in
management tool, clinician access application and genetic and genomic laboratories. LabDirector can
network infrastructure to enable data sharing. be deployed as a complete end-to-end LIS solution
or as middleware, automating laboratory processes
and interfacing seamlessly with instruments and other
Q GeneReviews .......................................... 1317
information systems.
Email: newgr@u.washington.edu
URL: http://www.genereviews.org
Q Genetics Society of America/G3 - Genes,
GeneReviews, provides free, expert-authored, peer-
Genomes, Genetics ................................... 1824
reviewed medical genetics information for physicians,
clinicians and researchers that is focused on clini- Email: society@genetics-gsa.org
cally relevant and medically actionable information URL: http://www.g3journal.org
regarding the diagnosis, management, and genetic Genetics Society of America includes 5,000 research-
counseling of patients with specific inherited condi- ers and educators. GSA publishes GENETICS and
tions. Funded by contract from NIH, sponsored by G3:Genes|Genomes|Genetics, both with ~one month
University of Washington, Seattle. to first decision. Open-Access G3 publishes high-
quality foundational research and useful genetic and
genomic information. Visit Booth 1824 to chat about
our journals’ focus on human and population genet-
ics, educational Primers, & more.

EXHIBITORS 217
Q Gene Tools, LLC ...................................... 1212 Q Genome Diagnostics Nijmegen ............. 1721
Email: custsupport@gene-tools.com Email: info@genomediagnosticsnijmegen.nl
URL: http://www.gene-tools.com URL: http://www.genomediagnosticsnijme-
Gene Tools manufactures Morpholino oligos for gen.nl/
blocking translation, modifying splicing or inhibiting Genome Diagnostics Nijmegen (Radboud University
miRNA activity. Morpholinos are used in cell cultures, Medical Centre, the Netherlands) offers high quality
embryos or, as Vivo-Morpholinos, in adult animals. diagnostics of genetic disorders (>425 disorders and
Morpholinos are effective, specific, stable and non- >800 genes). The main diagnostic services offered
toxic. Backed by Ph.D.-level customer support, Gene are: Single Gene Diagnostics, Gene Panels, Exome
Tools designs and synthesizes Morpholinos and Sequencing Diagnostics (including a full clinical re-
offers cytosolic delivery options. port) and Diagnostic Interpretation of Exome Data.
Q Genial Genetic Solutions/Rainbow Q Genzyme, a Sanofi Company ................ 613

Scientific, Inc. ...............................................421 Email: lena.ortins@genzyme.com
Email: info@rainbowscientific.com URL: http://www.genzyme.com
URL: http://www.genialgenetics.com
Genzyme has pioneered the development and deliv-
Genial Genetics offers the robotic MultiPrep Genie ery of transformative therapies for patients affected
and Cell Sprint Harvesting systems for both surface by rare and debilitating diseases for over 30 years.
culture and suspension culture harvesting. Our With a focus on rare diseases and multiple sclerosis,
ProCell cytogenetic reagents yield high qual- we are dedicated to making a positive impact on the
ity cytogenetic preparations. Our suite of genetic lives of the patients and families we serve. Visit www.
database software products including Shire, iGene genzyme.com.
and iPassport QMS, offer integrated multi-discipline
genetic patient management with excellent auditing
and document/process control capabilities. Q Globus Genomics ......................................525
Email: globusgenomics@uchicago.edu
URL: http://globus.org/genomics/
Q GenoLogics ................................................722
Email: info@genologics.com Globus Genomics enables large-scale genomics anal-
ysis. It combines a powerful graphical workflow en-
URL: http://www.genologics.com
vironment with state-of-the-art algorithms, advanced
GenoLogics is a leading provider of laboratory data management capabilities, and a cloud-based
information management system (LIMS) software elastic computational infrastructure. You can easily
designed for use with genomics and mass spec tech- and securely discover, move, analyze, share, curate,
nologies in regulated and research labs. Clarity LIMS and publish big data using just a web browser.
offers quick implementation, an intuitive interface and
features that makes it a valuable investment for labs
utilizing NGS and other -omics technologies. Q Golden Helix, Inc. .................................... 422
Email: info@goldenhelix.com
URL: http://www.goldenhelix.com
Q Genomatix Software ............................... 1216
Email: grant@genomatix.com Golden Helix enables the genetics research and
translational genomics community with its high qual-
URL: http://www.genomatix.com
ity analytics software solutions. Its products are used
Genomatix® is a computational biology company by thousands in research organizations, as well as
with excellent science. Having accumulated extensive pharma and biotech companies around the globe.
data content and software applications for the The company’s products have been cited in over 850
understanding of gene regulation for over 15 years, peer reviewed articles.
we now provide a comprehensive, integrated analysis
solution for all NGS applications, including rapid
variant analysis of clinical samples and physician
EXHIBITORS
report generation.

218 EXHIBITORS
Q Greenwood Genetic Center ................... 1015 Q Hussman Institute for Human
Email: kking@ggc.org Genomics – Center for Genome
URL: http://www.ggc.org Technology at U.Miami.............................. 1918
The Greenwood Genetic Center is a nonprofit institute
Email: CGTservices@med.miami.edu
organized to provide clinical genetic services, diag- URL: http://hihg.med.miami.edu/CGT
nostic laboratory testing, educational resources, and The Center for Genome Technology, a high-through-
research in the field of medical genetics. Our labora- put genomics core facility at University of Miami’s
tory offers biochemical, cytogenetic, and molecular John P. Hussman Institute for Human Genomics, spe-
diagnostic testing. We strive to Give Greater Care by cializes in exome/genome, targeted capture, RNA se-
combining state-of-the-art diagnostics with excep- quencing, genotyping and biobanking. Now offering
tional service. their expertise to the research community, enabling
low-cost, high-quality data, competitive turnaround
times and one-on-one customer service.
Q Hamilton Company ....................................232
Email: kcavallaro@hamiltoncompany.com
URL: http://www.hamiltonrobotics.com Q Hyperion Therapeutics ..............................838
Hamilton is a leading manufacturer of manual, semi-

Email: Tricia.Poblete@hyperiontx.com
automated and robotic products for precision fluid URL: http://www.hyperiontx.com
measuring. Hamilton’s VANTAGE,STAR and NIMBUS
lines offer innovative solutions for a wide range of
applications. With superior air displacement pipetting Q ICHG 2016................................................ 1819
technology at their core, our automated platforms Email: ichg2016@congre.co.jp
provide reliable and highly reproducible solutions. URL: http://www.ichg2016.org
The International Congress of Human Genet-
QHitachi .........................................................839 ics (ICHG) has been held every five years. The next
Email: rlynde@hitachi-solutions.com ICHG2016 meeting will be hosted by the East Asian
URL: http://www.inspirethegenome.com Union of Human Genetics Societies and Japan
Society of Human Genetics. Registration/Abstract
HITACHI has partnered with OpGen, Inc. to provide Submissions will start in June 2015. Join us in Kyoto,
a secure, highly automated, cloud-based analytical Japan, for ICHG2016!
platform for structural variation detection for whole
genome and individual chromosome analysis. We will
demonstrate the results of several studies that have Q Illumina, Inc. ...............................................721
been run through this state-of-the-art platform. Email: info@illumina.com
URL: http://www.illumina.com
Q Human Variome Project Int. Ltd ............ 1823 Illumina® provides innovative sequencing and
Email: rania@variome.org array-based solutions for genotyping, copy number
URL: http://www.humanvariomeproject.org variation analysis, methylation studies, gene expres-
sion profiling, and low-multiplex analysis of DNA,
The Human Variome Project is an international RNA, and protein. We also provide tools and services
consortium of individuals who are working towards that are fueling advances in consumer genomics and
reducing the burden of genetic disease. The aim diagnostics; paving the way for molecular medicine
of the Human Variome Project is to ensure that all and ultimately transforming healthcare.
information on genetic variation can be collected,
curated, interpreted and shared freely and openly
with the world. Q infoQuant ....................................................340
Email: info@infoquant.com
URL: http://www.infoquant.com
Q Hunter in Focus - A Positive Exposure
Project ..........................................Sails Pavilion infoQuant is the leading provider of software solutions
for DNA Copy Number and LOH analysis in clinical
genetics. The company is dedicated to helping clini-
cians and researchers with its accurate and fully auto-
mated analysis of clinical array and sequencing data
and intuitive laboratory-wide high-resolution array/
sequencing data management.

EXHIBITORS 219
Q Integrated DNA Technologies, Inc. ....... 1137 Q Invivoscribe Technologies ........................414
Email: custcare@idtdna.com Email: ppal@invivoscribe.com
URL: http://www.idtdna.com URL: http://www.invivoscribe.com
Integrated DNA Technologies (IDT) is a leader in cus- Invivoscribe® (invivoscribe.com) manufactures
tom biology for the research and diagnostic life sci- a range of cGMP gold standard tests, reagents, and
ence market and serves academic research, biotech- controls for the detection of gene rearrangements,
nology, and pharmaceutical development. Products gene mutations, and chromosome translocations
include DNA oligos, qPCR assays, and custom gene associated with lymphoproliferative disease and
synthesis to support many applications such as DNA hematologic malignancies. Invivoscribe now offers
sequencing, SNP detection, and functional genomics. a range of NGS-based products for clonality and
minimal residual disease testing.
Q Integrated Genetics/LabCorp...................131
URL: http://www.integratedgenetics.com Q The Scientist ........................................... 1921
Email: cayleyt@labx.com
Integrated Genetics is a leading provider of reproduc-
tive genetic testing services driven by its commitment URL: http://www.the-scientist.com
to physicians and their patients. With an expansive The Scientist is a publication dedicated to covering a
menu of complex tests and technologies, Integrated wide range of topics central to the study of cell and
Genetics spans the continuum of care from prena- molecular biology, genetics, and other life science
tal diagnostics to the largest commercial genetic fields. Through innovative articles, online stories, and
counseling network in the laboratory industry. www. multimedia features, the magazine explores the latest
integratedgenetics.com. scientific discoveries, trends in research and innova-
tive techniques.
Q Interactive Biosoftware .............................225
Email: contact@interactive-biosoftware.com Q JAMA Network ........................................ 1313
URL: http://www.interactive-biosoftware.com Email: sales@jamanetwork.com
Interactive Biosoftware is the creator of Alamut® URL: http://www.jamanetwork.com
Visual, the original mutation interpretation software: Building on a tradition of editorial excellence, The
simplifying the mutation interpretation process, JAMA Network brings JAMA together with nine
saving scientists time, improving outcome quality specialty journals to offer enhanced access to the
and enhancing productivity are its main strengths. A research, viewpoints, and medical news shaping
newly developed software, Alamut® Batch, for high medicine today and into the future. JAMA is one of
throughput annotation, is an essential tool in the NGS the most widely circulated, peer-reviewed, general
era. medical journals in the world.
Q Invitae .........................................................913 Q JMP Division of SAS Institute Inc. ......... 1017

Email: clinical@invitae.com Email: walter.teague@jmp.com
URL: http://www.invitae.com URL: http://www.jmp.com
Invitae, a genetic information company, is aggregat- JMP® Clinical and JMP® Genomics are the life sci-
ing the worlds genetic tests into a single service with ences software products that combine sophisticated
better quality, faster turnaround time and lower price JMP graphics with rigorous SAS® Analytics. This
than most single-gene tests today. Our mission is to integration yields graphical representations of life sci-
bring genetic information into routine medical prac- ences data that reveal context and insight impossible
tice to improve the quality of healthcare for billions of to see in spreadsheets while allowing unique and
people. easy access to the statistical details.
EXHIBITORS

220 EXHIBITORS
Q JN Medsys ..................................................640 Q KromaTiD .................................................. 736
Email: info@jnmedsys.com Email: info@kromatid.com
URL: http://www.jnmedsys.com URL: http://www.kromatid.com
JN Medsys is a life science company driven by KromaTiD’s molecular cytogenetic
the desire to make complex genomics tools such as andGeneTracker®assays discover,detect and diag-
digital PCR accessible to more people. Through inno- nose the widest range of disease causing mutations
vation, we deliver simplified solutions to achieve bet- - including inversions and translocations-in a single
ter performance at greater affordability. Our purpose test. Based on directional genomic hybridization
is to make lives better through superior products and (dGH), KromaTiD’s assays generate sequence, loca-
outstanding service. tion and orientation data from single cells, making
them ideal for mixed cell population studies.
Q JSI medical systems GmbH ..................... 324
Email: mail@JSI-medisys.com Q Lab7 Systems, Inc. ................................. 1839
URL: http://www.JSI-medisys.com Email: info@lab7.io
URL: http://www.lab7.io
JSI medical systems with US office in Costa Mesa,
CA is located in the Black Forest area at southwest The Lab7 Enterprise Sequencing Platform (ESP) from
of Germany. Our software SEQUENCE Pilot is the Lab7 Systems is the industry’s only fully-comprehen-
leading product for the analysis of next generation sive sample-to-answer data management software
sequencing (including HLA), conventional sequenc- for NGS laboratories, incorporating auditable sample
ing, Affymetrix chip resequencing, HLA SBT, and management and protocol workflows with data analy-
MLPA data. sis, reporting, and visualization. The Lab7 ESP works
with all sequencing platforms and can be deployed
on any compute infrastructure.
Q Kapa Biosystems Inc.............................. 1117
Email: info@kapabiosystems.com
URL: http://www.kapabiosystems.com Q Labcyte Inc. ............................................. 1830
Email: info@labcyte.com
Kapa Biosystems is a life science reagents supplier
URL: http://www.labcyte.com
that employs proprietary, directed evolution technolo-
gies to optimize enzymes for PCR, real-time PCR,
next generation sequencing and molecular diagnostic
Q Laboratory for Molecular Medicine,
applications. Kapa Biosystems offers a portfolio of
best-in-class products containing novel enzymes Partners ...................................................... 1115
that confer significant performance advantages when Email: lmm@partners.org
compared to traditional wild-type enzymes. URL: http://www.partners.org/personalized-
medicine/lmm
Q Knome, Inc. ............................................. 1618 The Laboratory for Molecular Medicine, a CLIA-cer-
Email: info@knome.com tified molecular diagnostic laboratory within Partners
URL: http://www.knome.com HealthCare Personalized Medicine, translates genetic
discoveries into clinical tests with a focus on next
Knome Inc. is a leading provider of human genome generation sequencing technologies. Testing areas
interpretation systems and services. Knome provides include disease-targeted panels, clinical genome
tools that help researchers, drug developers, and and exome sequencing with interpretation services
clinicians determine the genetic basis of human provided by experts.
disease and drug response. Designed to accelerate
the process of interpreting whole genomes, Knome’s
technologies are enabling the healthcare industry’s Q Labroots .................................................. 1318
transition to precision medicine. Email: tracy.salcido@labroots.com
URL: http://labroots.com/
LabRoots is the leading professional network-
ing website designed to connect all science verticals
through a myriad of unique features and tools across
geographic boundaries and fields of expertise.
LabRoots is the owner of BioConference Live - the
world’s largest producer of scientific virtual events.

EXHIBITORS 221
Q LabWare, Inc. ............................................ 224 Q Lexogen GmbH ....................................... 1140
Email: info@labware.com Email: info@lexogen.com
URL: http://www.labware.com URL: http://www.lexogen.com
LabWare is recognized as the global leader in Lexogen is a transcriptomics and next genera-
providing enterprise-scale Laboratory Information tion sequencing (NGS) company, focusing on the de-
Management Systems (LIMS) and ELN solutions. Our velopment of technologies for a complete transcrip-
Enterprise Laboratory Platform combines the award- tome sequencing. Lexogen’s portfolio includes library
winning LabWare LIMS solution with LabWare ELN, preparation kits for sequencing of coding as well as
a comprehensive Electronic Laboratory Notebook non-coding RNA.
application, enabling companies to optimize compli-
ance, improve quality, increase productivity and
Q LGC .......................................................... 1931
reduce costs.
Email: info.us@lgcgenomics.com
URL: http://Lgcgroup.com/genomics
Q Lathrop Engineering Inc......................... 1030
Email: bobl@lathropengineering.com LGC is unique in the genomics market place with
respect to our position both as a laboratory services
URL: http://www.lathropengineering.com provider and a developer of proprietary chemistries
Lathrop is a contract product development company and instrumentation to drive cost efficient genom-
specializing in instrumentation and consumables for ics solutions. “We use what we sell and sell what we
life science and diagnostic markets. We provide one- use.”
stop engineering and design solutions from concept
through to manufacturing providing a seamless,
Q Life & Brain GmbH .................................. 2020
painless transition for our clients. Technical expertise
includes: microfluidics, fluidics, optics, electronics, Email: info@lifeandbrain.com
systems integration, robotics, automation. ISO9001 URL: http://www.lifeandbrain.com/
LIFE&BRAIN is a biomedical enterprise lo-
QLC Sciences ............................................ 1925 cated in Bonn, Germany. Integrating a unique set of
Email: info@lcsciences.com academic and commercial expertise in Cellomics,
Genomics and Neurocognition, LIFE&BRAIN aims at
URL: http://www.lcsciences.com delivering the next generation of products for stem
LC Sciences develops technologies and provides cell engineering and is a leading European service
services for genomics and transcriptomics discover- provider for the generation and interpretation of
ies. Our new game-changing VariantPro™ technology omics data.
is the only multiplex PCR based targeted sequencing
method that solves inherent issues such as primer
Q Liferiver Bio-Tech Corp. ......................... 1314
induced variation in coverage with a one-step innova-
tive relay-PCR solution. Email: jimi@liferiver.com.cn
URL: http://en.liferiver.com.cn
Q Leica Biosystems...................................... 433 Liferiver is a high-tech enterprise that focuses
Email: cytovision@leicabiosystems.com on developing, manufacturing and selling of real
time PCR kit and instrument. Now there are over 300
URL: http://www.leicabiosystems.com kinds of PCR reagents across the following 11 series,
Advance your Cytogenetics workflow with Leica Bio- which cover almost every infectious disease and even
systems. Proudly offering end-to-end solutions that certain animal diseases.
include broadest range Kreatech™ FISH Probes, fully
automated slide processing with ThermoBrite® Elite,
Q Life Technologies ...................................... 513
and the scalable brightfield and fluorescent sample
analysis CytoVision® platform for a truly integrated Email: customerservice@lifetech.com
solution that ranges from single workstations to fully URL: http://www.lifetechnologies.com
networked configurations. Life TechnologiesTM products harness the power
EXHIBITORS
of science to transform lives. As a member of the

Thermo Fisher Scientific family of brands, our instru-
ments, everyday tools, and services offer high-quality,
innovative life science solutions for every lab and
application. Go to our website to learn more.

222 EXHIBITORS
Q Macrogen Clinical Laboratory ............... 1130 Q MedGenome Inc. ...................................... 137
Email: mcl@macrogenlab.com Email: amitc@medgenome.com
URL: http://www.macrogenlab.com URL: http://www.medgenome.com
Macrogen has been the corporate partner of choice MedGenome strives to diagnose molecular
on genomic sequencing for many academic and genetics basis of complex diseases by applying
commercial organizations. Our superior quality, cost advanced sequencing and other established clinical
effective business model and customer focused ser- technologies. MedGenome’s flagship product On-
vices allowed us to expand and grow into an interna- coMD assists clinical decision making and personal-
tional organization. Our seventeen years of sequenc- ization of therapy by linking patients tumor mutation
ing experience uniquely position us to contribute to profile with oncogenic processes, approved drugs
the next generation genomic sequencing. and open clinical trials.
Q MagBio Genomics, Inc. .......................... 1518 Q MediSapiens Inc. .................................... 1523

Email: info@magbiogenomics.com Email: rami.kakonen@medisapiens.com
URL: http://www.magbiogenomics.com URL: http://www.medisapiens.com
MagBio Genomics offers targeted and cost- MediSapiens provides drug discovery and
effective magnetic bead-based sample cleanup prod- development with tools that help in designing more
ucts targeting NGS, Sanger sequencing and library effective personalized drugs against life-threatening
preparation. Our mission is to help our customers diseases. We create powerful and intuitive software
generate quality data faster at a lower cost. and customized informatics solutions that provide
scientists with a way to quickly analyze and visualize
vast amounts of data an turn it into knowledge that
Q Maverix Biomics, Inc. ............................... 319
fuels innovation.
Email: marketing@maverixbio.com
URL: http://www.maverixbio.com
Q MetaSystems .......................................... 1033
Maverix Biomics, Inc. provides researchers with a Email: hwhitney@metasystems.org
cloud-based platform integrating best-in-class tools
URL: http://www.metasystems.org
to manage, analyze, and visualize genomic and
expression data in context with private and public MetaSystems provides fast, easy-to-use genetic
databases. The Maverix Analytic Platform supports imaging and high-throughput slide scanning systems:
building new Communities of Discovery across hu- ikaros automatic karyotyping system, isis FISH imag-
man, plant, animal, and microbial species. ing systems, CGH, mFISH,high resolution color and
banding analysis, and metafer scanning system for
fully automatic slide analysis, spot counting, rare cell
Q Mawi DNA Technologies .......................... 233
detection, metaphase search, and array analysis. We
Email: info@mawidna.com offer XCyte DNA probes.
URL: http://www.mawidna.com
Mawi has developed the iSWAB system, a non-inva- Q Mount Sinai Genetic Testing
sive sample collection method delivering 10 - 30ug Laboratory .................................................. 740
of DNA with less than 1% bacterial contamination.
Email: andy.look@mssm.edu
Samples can be easily collected from any popula-
tion segment including infants and elderly and also URL: http://icahn.mssm.edu/research/labs/
animals. Ambient stability and reduced processing genetic-testing-laboratory
time yields significant cost savings. Mount Sinai Genetic Testing Laboratory offers a com-
prehensive testing menu including molecular, cytoge-
Q McGraw-Hill Medical ................................ 216
netic and biochemical analyses in our CLIA-certified,
NY state approved and CAP accredited facility. Our
Email: digitalsales@mhedu.com team of laboratory directors, genetic counselors,
URL: http://www.mcgrawhillmedical.com account managers, and client service representatives
As one of the world’s premier medical publishers, provide superior service and state-of-the art testing.
McGraw-Hill Medical provides geneticists, research-
ers, educators, and students with access to Scrivers
OMMBID, the unparalleled online resource for
genetic contribution to health and disease, as well as
information for the broader medical world. Visit: www.
ommbid.com, www.accessmedicine.com, and www.
accesspediatrics.com to learn more.

EXHIBITORS 223
Q MRC-Holland........................................... 1031 Q Nature Publishing Group ........................ 1321
Email: info@mlpa.com Email: institutions@us.nature.com
URL: http://www.mlpa.com URL: http://www.nature.com
MLPA ® is a rapid, high-throughput technique for Nature Publishing Group (NPG) produces scientific
copy number quantification and methylation status information for researchers and the scientifically in-
analysis of genomic sequences. MRC-Holland offers terested general public. Each month our high-impact
hundreds of MLPA probe sets. Applications include: journals, open access titles, news, apps, conferences
congenital & hereditary disorders, tumor profiling and and job listings help over 9 million users to advance
methylation profiling. their research, reputation, careers and knowledge.
Part of Macmillan Science and Education.
Q MYcroarray .............................................. 1522
Email: info@mycroarray.com Q NBSTRN/NCC ......................................... 1725
URL: http://www.mycroarray.com Email: nbstrn@nbstrn.org
MYcroarray is a leading manufacturer of custom URL: http://https://www.nbstrn.org/
molecular probes for genomic applications includ- The Newborn Screening Translational Research Net-
ing capture baits libraries for targeted sequencing, work (NBSTRN) and the National Coordinating Center
fluorescent probes libraries, oligonucleotide libraries for the Regional Genetic Service Collaboratives
and oligonucleotide microarrays. We are the only pro- (NCC) will be sharing excellent resources available
vider of truly error-free oligonucleotides for synthetic for researchers, healthcare providers, public health
biology. We offer microarray hybridization, sequence professionals and consumers.
capture and sequence discovery services.
Q NeuroScience, Inc .................................... 123

QMyriad Genetic Laboratories ................. 1930
Email: customerservice@neurorelief.com
Email: staylor@myriad.com
URL: http://www.neuroscienceinc.com
URL: http://www.myriadpro.com
NeuroScience is committed to personalized
Myriad Genetics is a leading molecular diagnostic health care solutions. We provide sophisticated
company dedicated to making a difference in patients neurologic, immune and hormone laboratory testing,
lives through the discovery and commercialization as well as proprietary nutraceuticals that target identi-
of transformative tests to assess a persons risk of fied imbalances. We bring everything together for the
developing disease, guide treatment decisions and practitioner with our “assess & address” approach.
assess risk of disease progression and recurrence. For more information, call: 1-888-342-7272
Q NanoString Technologies, Inc. ................ 413 Q New England Biolabs, Inc. ....................... 533
Email: info@nanostring.com Email: freedman@neb.com
URL: http://www.nanostring.com URL: http://www.neb.com
NanoString Technologies is a provider of life sci- New England Biolabs, Inc. leads the industry in the
ence tools for translational research and developer discovery and production of enzymes for molecular
of molecular diagnostic products. The company’s biology applications, including sample prepara-
nCounter® Analysis System delivers highly- tion for next-generation sequencing. NEB’s global
multiplexed, direct profiling of individual molecules in reputation for manufacturing products of the highest
a single reaction without amplification. Applications quality, coupled with best-in-class technical support,
include Gene Expression, Single-Cell, miRNA and makes NEB the first choice for optimized reagents for
CNV. advanced technologies.
Q Natera ........................................................ 330 Q Nextcode Health ..................................... 1213

Email: info@natera.com Email: efarmer@nextcode.com
EXHIBITORS
URL: http://www.panoramatest.com/ URL: http://www.nextcode.com

In late 2012 Natera announced The PanoramaTM NextCODE offers the world’s most proven and
Test, the most accurate and comprehensive non- powerful solutions for analyzing whole-genome data.
invasive prenatal test available. Natera has a history Our systems enable you to store, query and visualize
off proven excellence in reproductive genetic testing raw sequence data on one patient or ten thousand,
having previously launched preimplantation genetic harnessing the entire genome to better diagnose and
diagnosis (PGD) for IVF, carrier screening and the treat disease - in real time, right from your desktop.
only prenatal non-invasive paternity test. Visit www.
panoramatest.com for additional information.
224 EXHIBITORS
Q NHLBI Resequencing & Genotyping Q ORPHANET.............................................. 1720
Service ........................................................ 1822 Email: contact.orphanet@inserm.fr
Email: Anu_Gopal@sra.com URL: http://www.orpha.net
URL: http://rsng.nhlbi.nih.gov/
Orphanet endeavours to provide the community at
NHLBI has funded the renewal of the Resequencing large with a comprehensive set of information on rare
and Genotyping (RS&G) Service to continue providing diseases and orphan drugs in order to contribute
custom DNA RS&G services at no charge to qualify- to the improvement of the diagnosis, care, and
ing investigators. The Service is now open for pilot treatment of patients with rare diseases.
projects on non-human models.
Q Oxford Gene Technology ......................... 320

QNorgen Biotek Corp.................................. 741 Email: contact@ogt.com
Email: info@norgenbiotek.com URL: http://www.ogt.com
URL: http://www.norgenbiotek.com
Oxford Gene Technology (OGT) provides world-
Norgen Biotek provides researchers with innovative class genetics research solutions to leading clinical
kits for Molecular Diagnostics (MDx), Sample Collec- and academic research institutions worldwide. The
tion/Preservation [from Urine, Stool, Plasma/Serum/ Company’s range of Cytocell® fluorescence in situ
Blood, Saliva] and microRNA/RNA/DNA/Protein hybridisation (FISH), CytoSure™ microarray and
Purification/Clean-Up (spin-column/96-well). Our kits SureSeq™ next generation sequencing (NGS) prod-
feature exceptional quality, ease-of-use and sensitiv- ucts and Genefficency™ services deliver high-quality
ity. Norgen Biotek provides researchers with the tools genetic analysis, enabling accurate identification of
to address any sample preservation and preparation the causative variation underlying genetic disease.
challenge.
Q Oxford Nanopore Technologies

QOasis Diagnostics Corporation ............. 1620 Ltd ............................................1141, 1239, 1240
Email: pds@4saliva.com Email: info@nanoporetech.com
URL: http://www.4saliva.com URL: http://www.nanoporetech.com
Oasis Diagnostics provides a series of tools for non- Oxford Nanopore Technologies is developing a new
invasive collection of nucleic acids [DNA, RNA] from generation of nanopore-based sensing technologies
saliva specimens. The Company also offers blood for analysis of DNA, RNA and proteins. The MinION™
and tissue based genomic [PCR] tests for PGx and device and GridION™ system are designed to pro-
susceptibility testing that have been validated to vide novel qualities in molecular sensing. They may
saliva specimens. Additional saliva collection tools for be used in scientific research, personalised medicine,
drugs, steroids and a point of care device available crop science, security, and environmental applica-
tions.
Q Omega Bio-Tek, Inc. ............................... 1039
Email: info@omegabiotek.com Q Oxford University Press ......................... 1412
URL: http://www.omegabiotek.com Email: custserv.us@oup.com
URL: http://www.oup.com/us
Q Omicia ........................................................ 236

Email: martin@omicia.com Q Pacific Biosciences .................................. 931
URL: http://www.omicia.com Email: info@pacificbiosciences.com
Omicia’s market-leading platform for fast, accurate URL: http://www.pacificbiosciences.com/
and flexible genome analysis allows users to derive The PacBio® RS II Sequencer enables scientists to
and report on clinically relevant insights from genomic study novel genetic variation from DNA and RNA
data. Researchers and clinical diagnostic organiza- samples. Single Molecule, Real-Time (SMRT®) tech-
tions use our solutions to identify the genetic basis nology provides the longest read lengths available
of a variety of conditions including childhood disease (>10kb to 50kb), optimal for de novo sequencing
and cancer to improve disease management and of structural variants, phasing of allele haplotypes,
medical outcomes. sequencing of full-length transcripts and discovery of
novel genes and gene isoforms.

EXHIBITORS 225
Q Partek Incorporated ................................. 715 Q Personome .............................................. 2008
Email: inquire@partek.com Email: vjoshi@personome.com
URL: http://www.partek.com URL: http://www.personome.com
Partek provides software for next generation se- We are a Cancer genomics company. We provide
quencing, microarray, and qPCR data analysis and vi- Data Annotation and curation services in the area of
sualization that empowers biologists to find biological Genomics. We also provide Mutation and Chemosen-
meaning within their data. With an intuitive interface stivity profiling using our proprietary Cancer Analytics
designed for researchers, Partek’s complete solution Platform, which generates the most comprehensive
takes raw data to statistical and pathway analysis genomic information about a patient’s individual
that allows true multi omics integration. genome, enabling physicians to optimize treatments
in clinical practice.
Q Pathway Genomics ................................. 1338
Email: clientservices@pathway.com Q Pfizer ........................................................ 1121
URL: http://www.pathway.com Email: jeff.carson@pfizer.com
URL: http://www.pfizer.com
Pathway Genomics provides physicians with
actionable genetic testing results on cancer risk, At Pfizer, we apply science and our global resources
medication response, cardiac health, carrier screen- to bring therapies to people that extend and signifi-
ing, and weight management. Since its founding in cantly improve their lives. Every day, Pfizer colleagues
2008, Pathway Genomics has become known for its work across developed and emerging markets to
dedication to clinical innovation and commitment to advance wellness, prevention, treatments and cures
medical responsibility – making it a leader in the com- that challenge the most feared diseases of our time.
mercial genetic testing industry. For more information,
visit www.pathway.com.
Q PhenX Toolkit .......................................... 1719
Email: hmp@rti.org
Q PerkinElmer, Inc. Life Sciences & URL: http://www.phenxtoolkit.org
Technology ................................................. 2022
The PhenX (consensus measures for Phenotypes
Email: CustomerCareUS@perkinelmer.com
and eXposures) Toolkit is a web-based catalog of
URL: http://www.PerkinElmer.com well-established measures of phenotypes and expo-
Biological complexity raises questions requiring sures. The Toolkit provides detailed protocols for 339
translational research from the well, to the cell, to measures across 22 research domains and tools to
the animal and back again. PerkinElmer enables you help investigators integrate PhenX measures into their
to approach your target from multiple perspectives: studies, and to identify opportunities for cross-study
locate, detect and quantitate your biology of interest; analysis.
analyze and understand it in wider physiological
contexts.
Q PREMAITHA HEALTH ............................. 1520
Email: iona@premaitha.com
Q Personalis, Inc. ......................................... 639 URL: http://www.premaitha.com
Email: info@personalis.com
Premaitha is a molecular diagnostics company
URL: http://www.personalis.com employing NGS technology to develop, manufacture
Personalis®, provider of the ACE Platform™, is and sell molecular diagnostic products intended to
an end-to-end genomics services company that have a major beneficial impact on human health. The
gives researchers and clinicians the most accurate IONA test is the first non-invasive in vitro diagnostic
and comprehensive sequencing and interpretation product for prenatal screening, enabling clinical labo-
solution. By utilizing unique and innovative manually- ratories to perform the test in house.
curated databases, advanced human reference
sequences, and sophisticated algorithms, we are able
to analyze and produce publication-ready, clinically-
EXHIBITORS
actionable results.

226 EXHIBITORS
Q PreventionGenetics LLC ........................ 1034 Q QIAGEN Inc. .............................................. 831
Email: clinicaldnatesting@preventiongenetics. Email: customercare-us@qiagen.com
com URL: http://www.qiagen.com
URL: http://https://www.preventiongenetics.com QIAGEN, the leading provider of Sample & Assay
PreventionGenetics is a leader in providing com- technologies, is launching a sample to insight NGS
prehensive clinical DNA testing offering NextGen workflow to translate discoveries from bench to
Sequencing, Sanger sequencing and deletion/dupli- bedside. QIAGEN products/automated solutions
cation testing via array CGH for over 1000 genes. Our provide precision applicable to any lab. QIAGEN
team of geneticists provide fast turnaround times, makes significant contributions to global applications
outstanding personalized service and the highest of science to real-life problems making improvements
quality testing at the lowest prices possible. Preven- in life possible.
tionGenetics is CLIA/CAP accredited.
Q RainDance Technologies, Inc. ............... 1236
QProgeny Software, LLC ............................ 821 Email: marketing@raindancetech.com
Email: accounts@progenygenetics.com URL: http://www.RainDanceTech.com
URL: http://www.progenygenetics.com RainDance Technologies is making complex genet-
Progeny provides family history, pedigree, sample ics simple. The company’s ultra-sensitive genomic
and genetic data management software to clinicians, tools are leading to new non-invasive liquid biopsy
researchers and labs worldwide. Our Online Family applications for more accurate, reliable, cost-effective
History Questionnaire allows you to collect custom and early detection of cancer, inherited and infectious
family history data and identify at-risk patients before diseases. The company supports customers using
the clinic visit - pedigrees are automatically drawn RainDrop Digital PCR &ThunderStorm DNA Sequenc-
and integrated with your EMR. ing Systems.
Q Promega Corporation............................... 621 Q Rare Disease Communications ............. 1424

Email: mary.oconnell@promega.com Email: jchristiansen@mjhassoc.com
URL: http://www.promega.com URL: http://www.rdr.com
As a world leader in applying genomics and cellular Rare Disease Communications is a website and
biology expertise to develop high value products for weekly e-newsletter that offers an independent voice
the Life Sciences, Promega Corporation understands for the Rare Disease Community. It strives to bring to-
that today’s Genomics challenges require creative gether medical, scientific, investment, regulatory, and
solutions. Stop by our booth to learn more about advocate professionals interested in rare diseases
successful approaches and tools for enabling your and orphan drugs.
genomics research.
Q ReachMD ................................................ 1441
QProove Biosciences, Inc......................... 1837 URL: http://www.reachmd.com
URL: http://www.ProoveBio.com ReachMD radio will be next to ASHG Central, and the
Proove Biosciences is the Personalized Pain radio hosts plan to interview attendees on a variety of
Medicine Company. Our mission is to Change topics ranging from hereditary cancers to the clinical
the Future of Medicine. Based in Southern Califor- implications of whole genome sequencing. Tell them
nia, Proove provides physicians with information what you think!
to improve the selection, dosing, and evaluation of
medications.
Q Recordati Rare Diseases ....................... 1731
Email: dutch.c@recordati.com
Q QIAGEN Bioinformatics ............................ 936 URL: http://www.recordatirarediseases.com
Email: marketing@clcbio.com
Recordati Rare Diseases (RRD) Inc is a member of the
URL: http://www.clcbio.com Recordati Group, which consists of Recordati S.p.A.
QIAGEN Bioinformatics is powered by CLC bio, and Orphan Europe. RRD’s mission is to partner with
Ingenuity, and Biobase. We offer bioinformatics patients, healthcare providers, advocacy and industry
software tools for next generation sequencing (NGS) to make products available to treat rare and severe
data analysis and interpretation. Our solutions are diseases.
designed to be universal, so you can mix and match
the technologies best suited to your needs.

EXHIBITORS 227
Q Regeneron Pharmaceuticals ................. 1519 Q Sage Science Inc. ..................................... 935
Email: regeneron@nc3.com Email: alex.vira@sagescience.com
URL: http://www.regeneron.com URL: http://www.sagescience.com
The Regeneron Genetics Center is a large-scale Sage Science provides products for preparation of
research organization that integrates high-throughput DNA and protein samples for life science research.
next-generation sequencing, world-class genome Featuring the PippinTM targeted size selection and
and clinical informatics, and novel cellular and animal Sage ELFTM whole sample fractionation systems, the
modeling technologies to identify genetic factors platforms automate preparative gel electrophoresis
affecting human diseases, guide the discovery and upstream of NGS and protein mass spec. Biomole-
development of novel therapeutics, and improve cules are fractionated by size, and collected in buffer.
healthcare outcomes.
Q SCC Soft Computer .................................. 312

QRetrophin, Inc.......................................... 2004 Email: sales@softcomputer.com
Email: medinfo@retrophin.com URL: http://www.softcomputer.com
URL: http://www.retrophin.com
SCC Soft Computer’s comprehensive genetics
Retrophin is a biopharmaceutical company focused information management suite offers a full range of
on the discovery and development of drugs for the genetics tools to automate workflow in the genetics
treatment of catastrophic diseases that are debilitat- laboratory. This suite is Web-accessible, and offers
ing and often life-threatening, and for which there are a selection of cytogenetics, molecular, flow cytom-
currently limited patient options. etry, immunogenetics, diagnostic pathology, and
biochemistry systems that are configurable allowing
predefined or unique, user-defined protocols.
Q Roche Diagnostics Corporation .............. 919
Email: sabine.dierolf@roche.com
URL: http://www.roche.com/ Q Science/AAAS ........................................... 221
Email: membership@aaas.org
Roche offers an extensive portfolio of genomic tech-
nologies to support translational research. Solutions
URL: http://www.aaas.org
for Next Gen Sequencing, NimbleGen targeted enrich- Since 1848, AAAS and its members have worked to-
ment, the LightCycler 96 system for qPCR, and the gether to advance science and serve society. As part
MagNA Pure 96 system for automated nucleic acid of these efforts, AAAS publishes Science, a multidis-
isolation help to make research decisions and labora- ciplinary peer-reviewed journal, and offers programs
tory processes easier, faster and more productive. focused on science policy, international cooperation,
science education, diversity, and career development
for scientists.
Q RUCDR Infinite Biologics ....................... 1336
Email: jmckiml@dls.rutgers.edu
URL: http://www.rucdr.org Q SCIEX Separations,
a part of AB SCIEX ...................................... 241
By utilizing a technologically advanced infrastruc-
Email: ServiceSales@absciex.com
ture and the highest quality biomaterials, RUCDR
has become a world leader in support of genetics URL: http://www.sciex.com/ce
research. RUCDR scientists work to convert precious AB SCIEX is expanding the power of CE and LC
biosamples into renewable resources thereby extend- by combining the nano and micro liquid chromatog-
ing research capabilities. We offer comprehensive raphy expertise of our Eksigent solutions and the mi-
biobanking, sequencing, nucleic acid and functional croscale separation expertise from Beckman Coulter
analytics and stem cell services. Life Sciences, to create the business unit known as
SCIEX Separations. The GenomeLab GeXP™ Genetic
Analysis System will be on display.
Q RURO Inc. .................................................. 941
Email: sales@ruro.com
EXHIBITORS
URL: http://www.ruro.com
RURO’s LIMS, Sample Management, RFID and
other solutions are able to manage and improve the
dynamic work environment of Genomics Research
laboratories, while also making them more connected
to partners and collaborators. RURO solutions make
more effective data input, access and sharing and
streamline difficult or complex workflows through
automation and a precise user experience.

228 EXHIBITORS
Q SciGene ..................................................... 423 Q SoftGenetics, LLC..................................... 530
Email: custserv@scigene.com Email: info@softgenetics.com
URL: http://www.scigene.com URL: http://www.softgenetics.com
NextGENe software for analysis of all NGS data now
SciGene automates FISH and CMA workflows to
including HLA, NIPT and Somatic Mutation Analysis
boost productivity, lower costs and reduce re-test
modules; Geneticist Assistant NGS Workbench, a
rates. At ASHG, see the CytoBrite Slide Incubation
knowledge base for the archiving of variant pre-
System for hybridizing 1 to 12 FISH slides; CytoZyme
dictions; GeneMarker with new Fragile X module,
Stabilized Pepsin for preparing tissue samples for
ChimerMarker, Chimerism Analysis software, and
hybridization with nucleic acid probes; and CytoBond
Mutation Surveyor software for the analysis of Sanger
Removable Coverslip Sealant for temporarily sealing
Sequences.
slide coverslips without humidification.
Q Sony DADC .............................................. 1224

QSeven Bridges Genomics ......................... 518
Email: biosciences@sonydadc.com
Email: team@sbgenomics.com
URL: http://biosciences.sonydadc.com
URL: http://www.sbgenomics.com
With a main focus on the Life Sciences and IVD
Seven Bridges Genomics delivers a secure and cost
tools markets Sony DADC BioSciences offers OEM
efficient cloud infrastructure that enables clients to
development, mass manufacture and supply of
design and execute complex next generation se-
polymer-based smart consumables in a B2B frame
quencing data analysis pipelines without the burdens
work. Manufacturing is located at the Headquarters in
of do-it-yourself command line bioinformatics. Our
Salzburg, Austria at our ISO 13485, ISO 14001, and
comprehensive and intuitive data exploration tools
ISO 27001 certified facility.
help you solve big data analytics problems with ease.
Q Source BioScience ................................... 321

QShire ........................................................... 819
Email: sales@sourcebioscience.com
URL: http://www.shire.com
URL: http:/www.sourcebioscience.com
Shire develops and markets innovative specialty
medicines to meet significant unmet patient needs, We are leaders in conventional and next generation
providing treatments in Neuroscience, Rare Diseases, sequencing, gene expression and genotyping ser-
Gastrointestinal, and Internal Medicine. Our goal is vices and offer a comprehensive portfolio of ORF and
to enable people with life-altering conditions to lead cDNA clones, antibodies, reagents and kits. We oper-
better lives. ate state of the art GLP facilities in LA and Atlanta,
with European facilities in UK, Germany, and Ireland.
Q SimulConsult, Inc...................................... 420

Q Springer ................................................... 1419
Email: genome@simulconsult.com
Email: exhibits-ny@springer.com
URL: http://www.simulconsult.com
URL: http://www.springer.com
SimulConsult provides diagnostic decision sup-
port systems to clinicians and labs. SimulConsult’s Come and browse current Springer titles in Human
Genome-Phenome Analyzer combines processing of Genetics. Get 20% off print books and eBooks – and
a genomic variant table and comparison of the pa- learn about MyCopy editions: a printed eBook for $/
tients findings to those of known diseases (phenome). 24.99 only. Springer, your partner in publishing. Meet
CLIA and research labs use it to assess in seconds our Editors at the Springer booth # 1419 to discuss
“which of the potentially pathogenic genes and vari- your publishing proposal.
ants explain the patient’s findings.”
Q STARLIMS................................................ 1038
QSobi Inc. ................................................... 1737 Email: sales@starlims.com

URL: http://www.sobi.com URL: http://www.starlims.com
Sobi is an international specialty healthcare STARLIMS, has been in labs around the world for
company dedicated to rare diseases. Our mis- almost 25 years. STARLIMS’ award-winning platform
sion is to develop and deliver innovative therapies offers clinical laboratories a powerful solution suite to
and services to improve the lives of patients. The help labs achieve analytical, regulatory and business
product portfolio is primarily focused on inflammation objectives. STARLIMS unified web-based platform
and genetic diseases, with three late stage biological offers Cloud based solutions, a Fusion integration
development projects within hemophilia and neona- module, Advanced Analytics, Mobile capabilities, ELN
tology. and SDMS.

EXHIBITORS 229
Q Station X .................................................... 125 Q The Focus Foundation ........................... 1718
Email: info@stationxinc.com Email: cgibbs@thefocusfoundation.org
URL: http://www.stationxinc.com URL: http://www.thefocusfoundation.org/
Station X is the home of GenePool, the leading soft- The Focus Foundation is the first and only research-
ware platform for scientists and clinicians who work based non-profit organization dedicated to identifying
with human genomics data. GenePool makes it easy and helping children who have X & Y chromosomal
to manage your projects, analyze your genomics and variations (including Klinefelter Syndrome (47 XXY)
clinical data and collaborate with others. Try it for free and Trisomy X) dyslexia and/or dyspraxia - often
on our website! overlapping conditions that may lead to complex
language-based disabilities, motor planning deficits,
reading dysfunction, and attention and behavioral
Q Strand Genomics Inc. ............................... 338
disorders.
Email: sales@avadisngs.com
URL: http://www.strandls.com
Q The Jackson Laboratory .......................... 637
Strand was founded in 2000 by faculty from the pres- Email: marketing@jax.org
tigious Indian Institute of Science. Strand’s segue into
URL: http://jaxmice.jax.org
the life-sciences was through informatics products
and services for research biologists, chemists and The Jackson Laboratory is a nonprofit biomedical
toxicologists that combine advanced visualization, research institution and National Cancer Institute-
predictive systems modelling, data integration, and designated Cancer Center. It has facilities in Bar Har-
scientific content management. Over 2000 research bor, ME, Sacramento CA, and a genomic medicine
laboratories worldwide are licensees of Strand’s institute in Farmington, CT. Its mission is to discover
technology products. genomic solutions for disease and empower the
global biomedical community in the shared quest to
improve human health.
Q Streck......................................................... 425
Email: custserv@streck.com
URL: http://www.streck.com Q The University of Chicago Genetic
Services ........................................................ 419
Streck’s molecular products provide reliable perfor-
Email: ucgslabs@genetics.uchicago.edu
mance as well as flexibility and efficiency. Innovative
products include a thermal cycler that can perform
URL: http://dnatesting.uchicago.edu
PCR in as little as 17 minutes, PCR tubes that Our laboratory is committed to high quality genetic
promote rapid amplification and economic reagent diagnostics and translational research toward the de-
usage, and kits for resistance detection. velopment of tests for neurodevelopmental disorders.
Some of our services include genetic testing for brain
malformation syndromes, microcephaly, epilepsy,
Q Sunquest Information Systems, Inc. ..... 1624
ataxia, monogenic diabetes, congenital muscle dis-
Email: Tracey.Eddy@sunquestinfo.com eases and Cornelia de Lange syndrome.
URL: http://www.sunquestinfo.com
Q Thomson Reuters ................................... 1733
Email: science@thomsonreuters.com
Q Swift Biosciences, Inc. ........................... 1013
URL: http://thomsonreuters.com/pharma-
Email: customerservice@swiftbiosci.com life-sciences/
URL: http://www.swiftbiosci.com
Thomson Reuters Life Sciences supports R&D pro-
Swift Biosciences develops innovative enabling tech- ductivity across the Pharma lifecycle with respected
nologies for genomics and personalized medicine. and comprehensive intelligence solutions. Offering
Our Accel-NGS™ products enable the production of unbiased scientific, competitive, regulatory, and
high quality DNA libraries from inputs of 10 pg to 1 generics information, analytics, and expertise for
g, making it possible to use one kit, one workflow for your organization, Thomson Reuters Life Sciences
EXHIBITORS
multiple applications. A new kit for RNA-seq is now empowers and enables effective, evidence-based
available. decision-making at every stage from discovery to
launch and beyond. thomsonreuters.com/pharma-
life-sciences/
Q Tecan.......................................................... 531
Email: info@tecan.com
URL: http://www.tecan.com

230 EXHIBITORS
Q Transgenomic, Inc. ................................... 212 Q V&P Scientific, Inc. ................................. 1938
Email: info@transgenomic.com Email: sales@vp-scientific.com
URL: http://www.transgenomic.com URL: http://www.vp-scientific.com
Transgenomic develops and commercializes biomark- V&P’s 96, 384, and 1536 pin tools transfer nanoliter
ers and personalized diagnostics with the goal of through microliter volumes to microplates, agar,
improving medical diagnoses and patient outcomes. membranes, glass slides. Unique stirring systems for
Transgenomic leverages proprietary technology mixing in microplates and reservoirs keep cells, par-
and molecular genetics expertise to provide a fully ticulates and magnetic beads in suspension for pipet-
integrated molecular diagnostic solution through our ting. Hand-Held Magnetc Bead Separation Blocks for
three integrated divisions Biomarker Identification, rapid manual separation and washing in microplates.
Genetic Assays and Platforms, and Patient Testing.
Q WaferGen Biosystems .............................. 222
QTrinean ..................................................... 1322 Email: info@wafergen.com
Email: tony.montoye@trinean.com URL: http://www.wafergen.com
URL: http://www.trinean.com
WaferGen Biosystems is an innovative life science
Trinean produces micro-volume platforms for dye-free company offering genomic tools for whole-genome,
DNA/RNA quantification and contamination analysis. targeted resequencing, genotyping and expression
Both the compact Xpose reader and 96well-based genetic analysis. Our Next-Generation Sequencing
DropSense96 are innovative spectrometers combin- target enrichment and library preparation solutions
ing UV/VIS spectral content profiling with microfluidic deliver excellent sequencing coverage for easy imple-
carriers for two ul sample preservation and micro- mentation in clinical labs benefiting clinical customers
cuvette read-out. Additional software allows in-depth from improved accuracy and precision.
content QC, automation and compatibility with
regulated labs.
Q WHEATON ................................................. 313
Email: support@wheaton.com
Q Tute Genomics ........................................ 1221 URL: http://www.wheaton.com
Email: info@tutegenomics.com
WHEATON has been dedicated to supporting scien-
URL: http://www.tutegenomics.com
tific advances and discovery by providing innovative
Tute Genomics is a cloud based software-as-a- solutions for the laboratory. The companys expertise
service platform that has the ability to analyze and in plastic and glass containers coupled with a wide
annotate human genomes in a rapid and cost-ef- selection of closure systems and custom solutions
fective way. Tute is opening a new door for preci- ensures the secure storage and delivery of sciences
sion medicine by helping researchers and clinicians most sensitive materials and precious specimens.
interpret genetic variants, find disease-related genes
and generate clinical reports.
Q Wiley......................................................... 1420
Email: info@wiley.com
Q UCLA Clinical Genomics Center ........... 1524 URL: http://www.wiley.com
Email: scwebb@mednet.ucla.edu
Wiley is the leading society publisher. We publish
URL: http://www.pathology.ucla.edu/genomics
on behalf of more societies and membership as-
The UCLA Clinical Genomics Center offers an exten- sociations than anybody else, and offer libraries and
sive menu of genetic and genomic testing for heredi- individuals 1250 online journals, thousands of books
tary disorders and cancer diagnosis/management, and e-books, reviews, reference works, databases,
and genetic counseling. Testing performed in our and more. For more information, visit the website or
CLIA-certified CAP-accredited Molecular Diagnostics our online resource: onlinelibrary.wiley.com.
Laboratories includes clinical exome sequencing with
expert interpretation by our Genomic Data Board.
Custom Sanger sequencing and chromosomal micro-
array available.

EXHIBITORS 231
Q World Fusion US, Inc .............................. 1040 Q Yourgene Bioscience.............................. 2030
Email: oshirase@w-fusion.co.jp Email: bchang@yourgene.com.tw
URL: http://www.w-fusion.com URL: http://www.yourgene.com.tw
World Fusion provides a knowledge station Yourgene Bioscience provides sequencing and
LSKB that aims to take full advantage of data mining bioinformatics solutions to major research institutions,
techniques to explore the optimum compound and universities and hospitals in Taiwan and Asia Pacific
the target protein/Gene. More than 60M non-redun- region. With an integrated team of experienced
dant compound are being categorized, and the vari- molecular biologists and bioinformaticians, Yourgene
ety of the interactions of those with proteins, genes, is highly motivated to provide quality sequencing data
diseases, and tissues are included. and analysis for all our valuable clients.
Q WuXi AppTec ........................................... 2010 Q Zymo Research Corporation ................... 230

Email: hongye_sun@wuxiapptec.com Email: info@zymoresearch.com
URL: http://www.wuxiapptec.com URL: http://www.zymoresearch.com
WuXi PharmaTech (Cayman) Inc. operates in two seg- Since 1994, Zymo Research has been offering in-
ments, Laboratory Services and Manufacturing Ser- novative, quality, and easy-to-use tools for Epi-
vices in China and the United States. The Laboratory genetics research and DNA/RNA purification. As “The
Services segment offers services for small molecules, Epigenetics Company” Zymo Research is an industry
such as synthetic chemistry, biology, medicinal chem- leader in epigenetic product and service develop-
istry, DMPK/ADME, formulation, analytical chemis- ment. Our products are well known for their quality,
try, toxicology, clinical development, bioanalytical affordability, efficiency, and unparalleled technical and
services, genomics, research reagent production, and customer support.
clinical services.
EXHIBITORS

NOTES
233
CONTINUING EDUCATION: CMES AND CEUS

Poster Sessions are not eligible for CME or CEU credits
CMEs and CEUs

For questions, contact ashgmeetings@ashg.org.
Continuing Medical Education Credits (CMEs)

The ASHG 2014 Annual Meeting has been planned and implemented in accordance
with the Essential Areas and Policies of the Accreditation Council for Continuing
Medical Education (ACCME) through the joint providership of the American College of
Medical Genetics and Genomics (ACMG) and ASHG.
Accreditation
The ACMG is accredited by the ACCME to provide continuing medical education
for physicians. All educational programming is developed and must be presented in
compliance with all ACCME accreditation requirements.
The ACMG designates this live activity for a maximum of 30.25 AMA PRA Category
1 CreditsTM. Physicians should only claim the credit commensurate with the extent of
their participation in the activity.
Procedures: There is a nonrefundable $45 fee payable during the registration process.
You can apply for credits through the online application available beginning October
22, 2014. The deadline to submit your request is December 29, 2014. Attendees may
use the mobile application or the Program-at-a-Glance to help track the sessions they
attended. Please see the section below for the learning objectives, target audience,
disclosure policy, and a list of presenters financial disclosures.
MDs and PhDs should apply for CMEs. The American Board of Medical Genetics and
Genomics (ABMG) will accept CMEs for MDs or PhDs participating in the Maintenance
of Certification (MOC) program in any ABMG specialty.
Continuing Education Unit Credits (CEUs) for California-Licensed Clinical and

Molecular Laboratory Directors
ASHG has been approved for Continuing Education Units for up to 30.00 units through
the Professional Acknowledgment for Continuing Education (P.A.C.E.®) program for
California-Licensed Clinical and Molecular Laboratory Directors.
Procedures: There is a nonrefundable $35 fee payable during the registration

process. You may also pick up your CEU packet in the ASHG Meeting Office, Room
23. Attendees may use the mobile application or the Program-at-a-Glance to help
track the sessions they attended. The deadline to submit your request for PACE
credits is Monday, December 1, 2014. No requests will be taken after this date.
Clinical Laboratory Scientists should apply for PACE CEUs. ABMG will accept PACE
CEUs for diplomats participating in the MOC program in the following categories:
234 CMEs and CEUs
Clinical Biochemical Geneticist, Clinical Cytogeneticist, and Clinical Molecular

Geneticist.
Continuing Education Unit Credits (CEUs) for Genetic Counselors

ASHG has been approved for up to 30.25 Category 1 CEU credits (30 contact hours)
for genetic counselors through the National Society of Genetic Counselors (NSGC).
NSGC is approved as an authorized provider of continuing education and training by
the International Association for Continuing Education and Training (IACET).
Procedures: There is a nonrefundable $40 fee payable during the registration

process. Registrants MUST apply for credits via the online submission system after
the meeting. The submission site will open on Wednesday, October 22, 2014. The
deadline to request credits is Monday, December 1, 2014. No submissions will
be taken after this deadline. You will need your registration ID to complete the CEU
application. Attendees may use the mobile application or the Program-at-a-Glance to
help track the sessions they attended.
Genetic counselors and nurses should apply for CEUs. The American Board of
Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes
of certification and recertification.
ASHG 2014 Learning Objectives

All attendees obtaining CME credits will be able to apply the newly acquired knowledge
and methods in the evaluation, diagnosis, intervention, treatment, and follow-up of patients
with a variety of disorders. At the completion of the meeting, participants will be able to: (1)
recognize gaps in knowledge of facts and new methods in genetics; (2) demonstrate ways
that the new information and its context may be applied in their own practices; (3) better
interpret results of complex genetic tests and recognize instances of most appropriate
use; and (4) understand in detail the benefits and potential harms of using the newest
genetic technologies. The 2014 ASHG Annual Meeting will help attendees to:
• Identify and fill gaps in knowledge in human genetics in areas of statistical analysis,
full genome sequencing, next-generation sequencing, genetic neurodegenerative
and other disorders, and epigenetics.
• Explain the value and use of the newest technological methods in full genome
sequencing in diagnosis of disorders and family studies.
• Provide context from discussions on the benefits and harms of returning results of
full genome sequencing to patients.
• Set principles for the provision of results and their interpretation in full genome
sequencing and the diagnosis of genetic risks and explain how genome sequencing
may be useful in an undiagnosed patient.
• Build upon guidelines for the successful counseling of patients receiving complex
genetic results.
• Present the newest results of gene therapy trials so clinicians may enroll patients or
apply therapies to appropriate patents.
• Identify and explain the newest non-invasive prenatal diagnostic methods.
CMEs and CEUs 235
• Integrate results of genomic testing into electronic health records and other
methods to store information.
• Recognize methods to use centralized databases in the diagnosis and treatment of
patients.
CMEs and CEUs

ASHG 2014 Target Audience
This meeting is targeted to research scientists, clinical and laboratory practitioners,
and others interested in human genetics and genomics. There is some special focus
on workshops intended for trainees. The program is varied so that participants may
select from several concurrent sessions that fit their specialized research interests and
clinical practice applications.
Program Format
Invited Sessions
The 2014 program is highlighted by 16 invited scientific sessions that have been
scheduled over two concurrent time periods. The Program Committee reviewed
86 proposals for invited sessions. The review process took into consideration the
merit and timeliness of each proposal as well as the need to balance topics in the
overall scientific program. The sessions highlight a wide range of topics of interest to
genetics practitioners, researchers, and counselors. Any conflicts were managed in
the process described below.
Featured Plenary Presentations (abstract-driven)

These sessions include a diverse set of presentations selected from the top-rated
abstracts submitted and have been programmed as listed below. Each author will give
a 15-minute presentation, with an additional five minutes for discussion.
Featured Presentation I: Saturday from 5:30 pm – 7:00 pm (four abstracts)

Featured Presentation II: Monday from 8:00 am – 8:25 am (one abstract)
Featured Presentation III: Tuesday from 8:00 am – 8:25 am (one abstract)
Platform Sessions (abstract-driven)

Fifty abstract-driven platform sessions totaling 400 oral presentations have been
programmed. There are five sets of 8 concurrent platform sessions.
Abstract Assignment Process

The Program Committee had the difficult task of determining which abstracts would
be accepted and in what presentation format. Below is a brief description of how this
task was performed.
1. Based on the author’s topic preference and keyword selection, an abstract was
initially reviewed by the Program Committee member responsible for that topic. If
the committee member determined that the abstract would be more appropriately
categorized under another topic, it was transferred to that topic. Sub-topic
designations were helpful in assigning abstracts to the most appropriate topic.
236 CMEs and CEUs
2. Each abstract was then sent electronically to three reviewers (including a

Program Committee member) who are experts in the field. Each reviewer scored
the abstracts independently and without knowledge of the score given by the
other reviewers. Abstracts were then assigned a score from 1 (highest priority)
to 8 (reject). The best cumulative score that an abstract could obtain from all
three reviewers was a 3 (1+1+1). Any conflicts were managed using the process
described below.
3. In general, abstracts receiving scores within the top 8% for each topic were
selected for platform (oral) presentations. The number of available oral
presentations for a given topic was in rough proportion to the number of
abstracts submitted for that topic, with some discretion given to the Program
Committee to adjust for the quality of abstracts in each topic in a given year. The
total number of oral presentations was 406.
4. The top-scoring abstracts from each topic were then considered by the Program
Committee for possible inclusion in the plenary sessions. Selection of plenary-
session presentations was based not only on the cumulative scores, but also
on the impact of the science being presented and the balance of topics in the
session. Six abstracts were finally chosen to constitute the plenary sessions in
recognition of the speed at which new, high-impact scientific discoveries are
now being made in human genetics.
5. The concurrent platform sessions were then assembled from the remaining
400 abstracts chosen for oral presentations (step 3 above, minus the 6 plenary
abstracts). Within the constraints that each concurrent session has exactly
eight abstracts, these platform sessions typically contain abstracts grouped by
topic/approach. Some of the platform sessions are “multi-disciplinary” sessions
centered around a topic and are designed to bring together investigators
interested in that topic from diverse areas of genetics.
237
SPEAKER AND AUTHOR DISCLOSURES/CONFLICT OF INTEREST
SPEAKER/AUTHOR DISCLOSURES
In accordance with the Accreditation Council for Continuing Medical Education
through the joint sponsorship of the American College of Medical Genetics and
Genomics (ACMG) and ASHG, all faculty, speakers, and moderators must disclose
the existence of any financial interest and/or other relationship(s) they might have with
the manufacturer(s) or provider(s) of any commercial product(s) or service(s) to be
discussed during their presentation: receiving a salary, royalty, intellectual property
rights, consulting fee, honoraria, ownership interest (e.g., stocks, stock options, or
other ownership interest, excluding diversified mutual funds), or other financial benefit.
Financial benefits are usually associated with roles such as employment, management
position, independent contractor (including contracted research), consulting,
speaking and teaching, membership on advisory committees or review panels, board
membership, and other activities for which remuneration is received or expected. If a
member of the ASHG 2014 Program Committee indicated a relationship that could be
perceived by some as a real or apparent conflict of interest in planning the program,
the committee member refrained from discussion.
Speaker Conflict of Interest: An alphabetical list of committee members involved

in the programming of the meeting, as well as invited session speakers and authors
of abstracts who have disclosed the existence of significant financial interest or
other relationships the presenter has with companies or organizations that may be
perceived to bias the presentation is listed below. This information allows the listener/
attendee to be fully knowledgeable in evaluating the presentation, and is required
to meet CME and CEU requirements. All speakers have a conflict of interest slide
automatically inserted into their presentation. For speakers that indicated a conflict,
the disclosure information they provided during abstract submission or completion
of the online conflict of interest form is used automatically. The following presenters
have indicated a relationship that within the context of their presentation could be
perceived by some as a real or apparent conflict of interest, but do not consider that it
will influence their presentation. The disclosures have been reviewed and conflicts-of-
interest resolved or managed. The number following each company name represents
the specific relationship from the list below.
1. Stock options or bond holdings in a for-profit corporation or self-directed pension

plan
2. Research grants, other grants, scholarships, or fellowships
3. Employment (full- or part-time)
4. Ownership or partnership
5. Consulting fees or other remuneration
6. Non-remunerative positions of influence such as officer, board member, trustee,
or public spokesperson
7. Receipt of royalties
8. Speakers' bureau
9. Receipt of substantial in-kind or donated goods or services
10. Inventor/patent owner
238 SPEAKER AND AUTHOR DISCLOSURES
11. Advisor
12. Collaboration
13. Company owner
14. Receipt of travel grants/honoraria
15. Other
• If a presentation is in a platform session, the abstract number is added in parentheses.

• If a presenter or organizer is not listed, then that person had no relationship to
disclose. Please visit the website for a full list of presenters without disclosures.
• Disclosures will also be included in presentation slides.
Committee Member Conflicts

Akey, Joshua (PC): Glenview Capital, 5
Bianchi, Diana (SI): Illumina, 5
Butte, Atul (IE): NuMedi, 1; Personalis,1; Carmenta,1
Hegde, Madhuri (PC): Ingenuity, 6; Oxford Gene Technology, 6
Ormond, Kelly (PC/SI): Google, 1
Committee Members with No Conflicts to Disclose

The following is an alphabetical list of program providers who had no relationship to
disclose.
Anderson, William (S) Gilissen, Christian (PC) Mortlock, Douglas (PC)

Antonellis, Anthony (PC) Gunter, Chris (PC) O’Leary, James (SI)
Avramopouloi, Dimitrios (PC) Kathiresan, Sekar (PC) Ozcelik, Tayfun (PC)
Bianchi, Diana (SI) Kocarnik, Jonathan (SI) Park, Jeenah (IE)
Bodurtha, Joann (PC) Kottoor, Vinayak (IE) Plon, Sharon (PC)
Bombard, Yvonne (SI) Leal, Suzanne (PC) Pober, Barbara (PC)
Bonham. Vence (SI) Lettre, Guillaume (PC) Potocki, Lorraine (IE)
Bowling, Bethany (IE) Levy, Howard (SI) Province, Michael (PC)
Carroll, June (IE) Lontok, Katherine (S) Rodriguez, Laura (SI)
Chen, Yimang (S) Loos, Ruth (PC) Speicher, Michael (PC)
Cody, Jannine (IE) MacArthur, Daniel (PC) Stark, Louisa (IE)
Doucet, John (IE) McCallion, Andrew(PC) Tabor, Holly (SI)
Dougherty, Michael (S) McGovern, Peggi (S) Weksberg, Rosanna (PC)
Enns, Greg (PC) McInerney, Joseph (S) Wolf, Brittany (S)
Faucett, W. Andrew (IE) Metcalfe, Sylvia (IE) Zhang, Hongqiang (S)
Francomano, Clair (PC) Minhinnett, Pauline (S) Zhou, Wujun (S)
Fullerton, Stephanie (SI) Molke, Karen (PC) Zwick, Michael (PC)
PC=Program Committee; SI=Social Issues Committee; IE=Information and Education

Committee; S=Staff; SR=Slide Review Committee
SPEAKER AND AUTHOR DISCLOSURES 239
INVITED SPEAKER AND PLATFORM AUTHOR CONFLICTS
Poster author conflicts are not listed
Balwani, M., Genzyme, a Sanofi Company - 14 (365) Miller, M. J., Metabolon Inc. - 12 (373)
Battle, A., Google, Inc. - 5 (Session 75) Morissette, R., Diurnal, Ltd.; NIH/Diurnal, Ltd. CRADA
Bean, L. J. H., Emory Genetics Laboratory - 3 (374) - 15 (132)
Bercovici, S., Silicon Valley Biosystems - 1, 3 (154) Nelson, S. F., UCLA - 3, 10 (Session 8)
Brenner, S. E., TCS - 2 (173) Palomaki, G. E., Natera, Inc - 2; Sequenom, Inc - 2, 5
Burton, J. N., Authors - 10 (330) (Session 69)
Butte, A., Personalis - 1, 5, 10; Geisinger - 11; Pinelli, M., Complete Genomics Inc - 3 (212)
Regeneron - 5, 11; Covance - 5, 11 (Session 6) Ramsey, B., NIH - 2; CFF - 2; Insmed Incorporated;
Chaisson, M. J. P., Pacific Biosciences - 3 (332) N30 Phamaceuticals, LLC - 15; Novartis
Church, D. M., Personalis, Inc. - 3 (42) Pharmaceuticals Corp.; Vertex Pharmaceuticals
Couch, F., Myriad Genetics - 7 (338) Incorporated - 5, 15 (Session 8)
Dermitzakis, E., DNANexus - 1, 11 (Session 71) Rehm, H., Knome - 11, 14; Complete Genomics - 11,
Durand, E. Y., 23andMe, Inc. - 1, 3 (153) 14; Ingenuity - 11, 14; Generation Health - 11, 1
Epstein, M. P., Amnion Laboratories - 5 (28) (Session 70)
Forsberg, L. A., CRAY Innovation AB - 4, 10, 13 (295) Schwartz, S., Laboratory Corporation of America - 1
Fromer, M., Roche - 2; Takeda - 2 (347) (62)
Fusi, N., Microsoft Research - 1, 3 (169) Sebat, J., Roche - 2 (344)
Garraway, L. A., Novartis - 2, 5; Boehringer Ingelheim Shendure, J. A., Illumina - 12 (Session 76)
- 5, 14; Millenium - 5, 14; Foundation Medicine - 1 Sklar, P., Catalytic Inc - 15; Sage Bionetworks - 2, 6
(Session 70) (345)
Germain, D. P., Genzyme, a Sanofi company - 2, 14 (364) Strom, C. M., Quest Diagnostics - 1, 3 (67)
Gerstein, M., DNANexus - 1, 11; Bina Technologies - Susswein, L., GeneDx - 3 (313)
1, 11 (Session 4) Takahashi, J. S., Reset Therapeutics, Inc. - 1, 4, 5, 11
Gripp, K. FDNA - 6 (Session 72)
Johnston, J. J., Illumina - 11; Genentech - 7 (46) Tavtigian, S., Myriad Genetics, NIH - (Session 71)
Kehr, B., Amgen Inc. - 13 (38) Terry, S., InVitae - 5; Sanofi - 2; Regeneron - 14
Kodira, C., General Electric - 3 (333) (Session 74)
Korbel, J., Pacific Biosciences - 12 (Session 4) Torkamani, A., Cypher Genomics, Inc. - 4, 5, 7, 10
Lee, W., Seven Bridges Genomic Inc. - 1, 3 (41) (112)
Lo, Y. M. D., Sequenom - 1, 2, 5, 7, 10; Xcelom - 13, van Min, M. J., Cergentis - 1, 3, 4, 10 (328)
10 (Session 69) Wang, J., Quest Diagnostics - 3 (61)
McDonald-McGinn, D. M., Natera - 8 (306) Wang, Y., Ancestry.com - 1, 3 (107)
Mignot, E., GSK - 5; Jazz Pharma - 5; Novo Nordisk - Zamani Esteki, M., Cartagenia - 12 (327)
5; Reset - 5 (Session 72)
If a presenter or organizer is not listed, then that person had no relationship to

disclose. Please visit the website for a full list of presenters without disclosures.
240 SPEAKER INSTRUCTIONS
SPEAKER INSTRUCTIONS AND PRESENTATION GUIDELINES
Speaker-Ready/Presentation Uploads – Room 33C, Upper Level

Telephone: 619-525-6208 (operational Saturday, October 18-Wednesday, October 22)
All speakers are required to upload their presentation in advance of the session.
Visit the Speaker Presentation/Upload Room at least three hours before your talk. All
presentations will be downloaded to your session room one hour before the scheduled
start of the session. The system in the speaker ready room will be locked at that time
and you will be unable to access your presentation thereafter. Please plan accordingly
and upload your presentation early. Please do not take your laptop to the meeting
room. ASHG does not permit use of personal laptops for presentations.
The speaker presentation upload room is open during the following hours.
Saturday 11:00 am – 5:00 pm

Wednesday 7:00 am – 10:00 am
It is important that all speakers stay on time. Moderators have been instructed to stop
you from speaking if you go over the allotted time. Timers will be at the podium to
assist you. All speakers are required to check in with the moderators and audiovisual
technician in the session room 30 minutes prior to the start of the session (not the
start of your talk). We ask that all presenters sit in the front row to ensure easy
transition between speakers.
Slide Preparation
• When presenting patient data and health information (including photos), all presenters
must be compliant with informed consent regarding human subjects and all
applicable HIPAA regulations.
• ASHG rules and guidelines require disclosure of gene names and sharing of research
data so that findings can be replicated and other investigators with similar data can
test your findings against their own.
• Authors must disclose on one of their slides whether the abstract has been previously
published. If the abstract has been previously published, authors should indicate the
date and publication and must address new findings since the publication.
• Authors who do not name genes at the meeting or do not address previously
published details will be subject to sanctions as determined by the Program
Committee. The moderator and a member of the Program Committee will be in the
audience to monitor compliance.
• The last slide in your presentation may include acknowledgments. Authors should not
use presentation time to acknowledge co-authors and collaborators.
SPEAKER INSTRUCTIONS 241
• ASHG’s Social Media Guidelines and Twitter Policy: Please refer to the website for
the dos and don’ts of Social Media at www.ashg.org/2014meeting (click on general
information). Remember that talks are tweetable and shareable by default. Speakers
can ask that specific details not be shared and can opt out by informing the audience
of their preference.
• If you are willing to share your slides (or a portion of them) with the audience, please
include a slide at the end that states how interested parties can get a copy of your
presentation or how they can reach you afterwards for further questions.
Speaker Disclosure/Conflict-of-Interest
The ASHG Annual Meeting has been planned and implemented in accordance with
the Essential Areas and policies of the Accreditation Council for Continuing Medical
Education (ACCME) through the joint providership of the American College of Medical
Genetics and Genomics (ACMG) and ASHG. The ACMG is accredited by the ACCME
to provide continuing medical education for physicians. All educational programming
is developed and must be presented in compliance with all ACCME accreditation
requirements. Presenters must adhere to these guidelines, which are outlined below.
Failure to do so may result in your presentation being excluded from the meeting.
*All speakers must sign a disclosure statement regarding the existence of any financial
interest and/or other relationship(s) they might have with the manufacturer(s) or
provider(s) of any commercial product(s) or service(s) or with commercial and academic
laboratories that accept samples for testing or develop any laboratory test or test(s) to
be discussed during their presentations.
*Authors with conflicts to disclose that may affect the content of their presentations will
be required to provide a copy of their slides in advance of the meeting so they can be
peer-reviewed. Authors who disclosed a conflict will be contacted and will be asked
to upload their slides by at least two weeks in advance of the meeting so the slides
can be reviewed by members of the Program Committee. Once approved, the slides
cannot be changed. Disclosure of financial relationships will be listed in the Program
and on the website.
*Talks must be free of commercial bias for or against any product. If commercial
products are discussed, the session must present objective information about those
products, based on generally accepted scientific evidence. Speakers must not engage
in the marketing of product(s) in any way during the presentation. Moderators have
been instructed to intervene if this occurs.
*The content or format of a CME activity or its related materials must promote
improvements or quality in healthcare and not a specific proprietary business interest
of a commercial entity. Presentations must give a balanced view of therapeutic options.
Use of generic names will contribute to this impartiality. If the educational material or
content includes trade names, trade names from several companies should be used
when available, not just trade names from a single company.
242 SPEAKER INSTRUCTIONS
*No logos on slides. To satisfy potential conflict of interest issues, corporate, academic,
and/or university logos may be included only on the first and last slides. Other slides
may not contain logos.
*Authors must include a conflict-of-interest slide as part of their presentations to meet

ACCME requirements, even when there is nothing to disclose. This ASHG-approved
slide will be inserted automatically as the first slide in the presentation. For speakers who
indicated a conflict, the disclosure information completed during abstract submission
will be used automatically. No further action is required by authors for the conflict-of-
interest slide.
243
INVITED SPEAKER AND FIRST AUTHOR INDEX
SPEAKER/FIRST AUTHOR INDEX

The index includes an alphabetical listing of all invited speakers, and first/presenting authors
only. It does not list co-authors. For a complete list of authors, including co-authors and
study groups/consortia, please visit the ASHG 2014 website at ashg.org/2014meeting or
use the search function on the itinerary builder.
A Albalwi, M., 806M Annilo, T., 546T Balasubramanian, K., 3096T

Albert, J., 3019S Ansar, M., 2895T Balasubramanian, S., 96
Albrechtsen, A., 55 Antaki, D., 1203T Baldan, A., 2904T
Abbott, D., 3319T Alcausin, M. B., 2703M Antonarakis, S. E., 165 Balding, D. J., 1759M
Abbs, S., 2431T Alders, M., 3116M Antoniou, E., 1617S Balick, D., 12
Abdalla, H. A., 3481T Aldinger, K. A., 3045T Antounians, L., 569M Ballew, B. J., 2918M
Abd Allah, S.Ghareeb., Alexander, J., 3435M Anttila, V., 1062T Balog, J., 508T
3198T Alexander, M. S., 377 Anusha, U., 2242M Balwani, M., 365
Abdellaoui, A., 592S Alfano, G., 3092M Aparicio, R., 2664M Bancroft, E., 3509S
Abdelmoula, N., 2699S Alfonse, L., 1468M Aquino-Michaels, K., 655S Banda, Y., 1892M
Abdel-Rahman, M. H., Al-Hamed, M. H., 3014M Aragon-Martin, J. A., 3126T Bandlamudi, C., 3
3484T Alhariri, A., 587M Araujo, A. L., 2721M Banfi, S., 1471M
Abecasis, G., 246 Al-Hertani, W., 2219T Araujo, TK., 878M Banks, W., 1242T
Abecasis, G. R., Session 25 Ali, A., 2629T Arboleda, V. A., 3017M Bansal, V., 760S
Abel, H. J., 1846M Ali, M. M., 2727M Arbour, L. T., 2064M Bao, X., 2786S
abiri, m., 2235T Alisch, R. S., 376 Arcanjo Silva, A. C., 625S Baple, E. L., 266
Abney, M., 261 Alkhateeb, A., 2884S Aretz, S., 3270M Baptista, N. M., 2386S
Abou Jamra, R., 3053M Alkhunaizi, E., 2178M Arguello, R., 1628T Barashkov, N. A., 883S
Abou Tayoun, A. N., 629M Alkorta-Aranburu, G., Ariniello, L., 317 Baratela, W. A. R., 2728T
Abramovitz, D. L., 2481M 2469M Armour, J. A. L., 593M Barbalho, P., 1351S
Abrantes, P.CS., 942T Allaire, N., 1710S Arno, G., 2976T Barber, M., 1844T
Abtahi, S., 1302T Allayee, H., 924T Arora, K., 1565T Barclay, S. F., 1340M
Abul-Husn, N. S., 1102S Allen, A., 27 Arpawong, T. E., 1174S Bardi, S., 2057S
Abulí, A., 2402S Allen, M., 1072S Arslan, M., 2262M Barfield, R., 1768M
Aceves-Aceves, M. A., Almeida, MAA., 2116M Arslan Ates, E., 3123T Barg, C. J., 2394S
2719T Almeida, T. B., 731S Artomov, M., 787S Baris Feldman, H. N., 2826S
Achatz, M., 3475T Almoguera, B., 2723S Aschard, H., 966T Barlow-Stewart, K., 2819S
Achilli, A., 1993S Al-Mubarak, B. R., 1247M Asgari, S., 796S Barnes, A. M., 3107M
Achilly, N. P., 390 Alnaemi, F., 1121M Ashar, F. N., 1116T Barragan Osorio, LP.,
Acke, F., 293 AlOthman, L. K., 1831M Ashton, E., 2581T 2772M
Ackerman, C. M., 2115S Alsadah, A., 2779T Asimit, J., 1869S Barrie, E. S., 2077S
Adams, A. F., 1995S Altarescu, G., 2824S Asp, M., 1705M Barrientos- Perez, M.,
Adams, JN., 838S Altmüller, J., 2410S Asrani, K., 817S 2605T
Addis, L., 1300S Altuwaijri, A., 426T Asselbergs, F. W., 2035S Barris-Oliveira, A. C., 2243T
Adhikari, A. N., 2532M Alvarado, D., 1060S Auerbach, A. D., 1629S Barseghyan, H., 3143S
Adir, V., 2778M AlvaradoArnez, L., 1818S Ayala-Ramírez, P. A., 2865S Bartel, F., 3217T
Afshar, P. T., 1478T Alvarez, C., 3228M Aykut, A., 3120T Barth, A. L., 2285T
Afzal, U., 425M Alves, L. U., 2885M Ayub, Q., 1996M Bartlett, C. W., 1834M
Aglan, M. S., 2680T Amabile, S., 1288S Ayyagari, R., 2992S Baschal, E. E., 859S
Agrawal, P. B., 2981M Amati-Bonneau, P., 1346M Azencott, C. A., 167 Basehore, S., 2551T
Agrawal, S., 1512S Amberger, J. S., 2942M Basel-Vanagaite, L., 2771S
Ahluwalia, M., 1032T Ambrose, K. K., 1359T Basha, M., 3157S
Ahn, J., 1007M Amendola, L., Session 70, B Bashirova, A., 636T
Ahn, J. W., 1564M 2522S Basile, K. J., 1104T
Ahn, K., 1173T Ammar, R., 717S Babron, M. C., 1821S Baskovich, B., 2562M
Akalin, I., 1949S Amos, C., 3283T Bacelis, J., 2849S Bassaganyas, L., 594T
Akar, H., 1950M Amrom, D. R., 1289M Bademci, G., 2964T Bastarache, L., 166
Akin, H., 3333M Amundadottir, L., 887M Badenas, C., 3127S Basu, A., 1902M
Akiyama, N., 2313S Amyere, M., 2117S Baek, W. S., 1205M Basu, M., 2079S
Akler, G., 3154S An, P., 910S Bai, R., 312 Batista, O. I., 2509T
Akula, N., 1287T Anaclerio, F., 1934M Baier, L. J., 759T Battaglia, A., 2618S
Alaimo, J. T., 1063S Andermann, E., 1274M Bailey, M., 961S Battle, A., Session 75
AL-Allaf, F. A., 2120M Andersson, H. C., 2274M Bailey-Wilson, J. E., 1088M Bauer, P., 2341T
Al Amri, A., 750T Andiappan, AK., 888T Baird, D. A., 1513M Baxter, S., 2454M
Al-Aqeel, A., 2829S Andreasen, D., 3443S Baker, P. R., 3133S Bay, S. N., 3414M
Al-Asadi, H., 1436T Andrieu, N., 1799T Balaburski, G., 1353T Bayon, B. L., 1354S
Alastalo, TP., 2138M Ang Houle, A., 1479S Balak, C. D., 3024T Bayram, Y., 3016S
Alavi, M., 2868T Anhalt, A., 1339S Balakrishnan, P., 2096M Beal, M., 2293T
244 SPEAKER AND FIRST AUTHOR INDEX
Beale, H., 1480M Bittencourt Piccini, A., Browning, B. L., 152 Capri, Y., 1334M
Bean, L. J. H., 374 797M Browning, S. R., 1999S Caraballo, P. J., 718M
Beaudoin, M., 3020M Bjelland, D., 1464S Brownstein, C. A., 2412S Carbonetto, P., 925S
Beck, A. E., 2974S Bjork, B. C., 3150S Bruce, S., 2424M Cardinale, C. J., 3119M
Beck, C. R., 595S Blackburn, A., 21 Brudno, M., 170 Cardoso, M. G., 3438M
Becker, J., 1009S Blanchard, J. W., 2373T Bruestle, J., 1587S Carmi, S., 1928M
Beckmann, N. D., 1057S Blanton, S. H., 2083S Brunner, H. G., Session 48 Carmona-Mora, P., 3088S
Beecham, A. H., 1900M Bloss, C., 2314S Brusco, A., 2907T Carpenter, M. L., 250
Beesley, J., 3278S Blue, E., 1814T Brusius-Facchin, A. C., Carrasquillo, M. M., 1301M
Begay, R. L., 124 Blumenthal, I., 19 1516M Carrillo-Moreno, D. I., 3445T
Begum, F., 757S Bobo, D. M., 1951S Bruun, G. H., 550S Carrion-Castillo, A., 1223M
Beiraghi, S., 879T Bocharova, A., 1156S Bryc, K., 1904M Carroll, A., 1517T
Bekheirnia, M., 3010S Bodamer, O., 2227T Bryois, J., 283 Carroll, C. J., 2982T
Bekris, L. M., 535S Bodea, C., 1914M Bu, F., 2977S Carroll, J. C., 2411S
Belbin, G., 175 Bodenhofer, U., 1728S Buchkovich, M. L., 511S Carson, A. R., 2500T
Belkadi, A., 1609M Bodian, D., 1514T Buckingham, K. J., 2123S Carstensen, T., 1511T
Bell, J. T., 427M Body, S. C., 2090M Buhay, C., 1365S Carter, C., 389
Bell, R. K., 2082M Boeldt, D. L., 2374M Buil, A., 660T Carter, M., 2671T
Bellayr, I. H., 565S Boland, J., 3488S Buis, J., 2512T Carulli, J., 730M
Belle, K., 1319M Bombard, Y., 2379T Bulik-Sullivan, B., 1787T Carvalho, B. S., 1518S
Belmont, J., 2121S Bonaldi, A., 3174T Buote, C., 1602S Carvalho, M. R. S., 3321M
Below, J. E., 54 Bone, W. P., 1499T Burashnikov, E., 2150M Carvill, G. L., 3060T
Beltran, S., 1630M Bonham, V., 321 Burdon, K. P., 788M Casadei, S., 3224S
Belyaev, A., 1618M Bonifaz, V., 1903S Burgess, D., 3349T Casalone, E., 410T
Ben-Avraham, D., 783T Bonilla, X., 2763M Burgess, J., 429M Cassa, C. A., 93
Ben-David, E., 1310M Bonnen, P., 270 Burgess, M., Session 74 Cassidy, S. B., Session 23
Benke, P., 2765S Boomer, T., 2831S Burke, W., Session 74 Castellani, C., 1226M
Ben-Shachar, S., 1106M Boonvisut, S., 2042M Burnett, L., 2564S Castello, R., 147
Bentley, A. R., 866M Booth, K. T., 2961T Buroker, N., 898S Castro, A.CV., 2757M
Bercovich, D., 756T Borel, C., 532S Burrage, L., 2289T Cavalcanti, D., 2023S
Bercovici, S., 154 Borges, M. G., 1515S Burrow, T. A., 2282M Cebulla, C. M., 3485S
Berg, J. S., 2597S Borns, M. C., 1619T Burton, J. N., 330 Cedro-Tanda, A., 3231M
Bergen, A. W., 680M Borralleras, C., 3065M Busche, S., 430T Cerdeira, L., 1585M
Berker Karauzum, S., 3194T Botta, S., 526S Bush, L., 2350M Cerise, J., 560M
Bernat, J. A., 2563T Bouatia-Naji, N., 2147S Bushman, F. D., Session 76 Cervantes, I., 1356T
Berndt, S. I., 296 Bouman, A., 428T Butali, A., 841S Cervera Juanes, R. P., 431M
Bernhardt, B. A., Session Bowdin, S., 2154M Butler, M. G., 1213S Ceyhan-Birsoy, O., 2533T
11, 216 Bowler, R. P., 784S Butte, A., Session 6 Cha, D. H., 2834S
Bernier, F. P., 1217M Bowling, K., 2583M Buxbaum, J. D., 20 Cha, P., 1162S
Bershteyn, M., 265 Boyar, F., 1131T Bycroft, C., 2017S Chad, L., 2676M
Bertolin, C., 3064S Boyden, S. E., 81 Byrnes, A. E., 160 Chaisson, M. J. P., 332
Bertrand, J., 728M Boyle, S. M., 3348M Byrska-Bishop, M., 512M Chakraborty, R., 1890S
Betz, R., 967S Braathen, G. J., 3050M Chalkia, D., 1191T
Beunders, G., 2748M Bradbury, A. R., 2407S Chami, N., 2051S
Bhangale, T., 1362S Bradfield, J. P., 1167T C Chan, E. T., 1652T
Bhanwer, A., 1024S Bradshaw, P. S., 3401S Chan, S., 1446S
Bharj, J., 3139S Bragagnolo, S., 2777S Cabral, W. A., 3095M Chan, S. L., 682M
Bhaskar, A., 1997S Brand, H., 16 Caceres, A., 3416S Chan, W., 478T
Bhat, C. G., 681S Brar, S. K., 1859T Cai, X., 2470T Chan, Y., 968M
Bhatia, G., 937S Bras, J., 1192S Cajuso, T., 3320S Chandler, R. J., 2191S
Bhatia, N., 2637M Braun, D. C., 1998M Cakiris, A., 633T Chang, C. C., 91
Bhatia, S., 518M, 2886T Bray, M. J., 2805S Caliskan, C., 3442T Chang, F., 3391T
Bhattacharya, S., 2914S Brenner, S. E., 173 Callewaert, B., 2549S Chang, L., 1738M
Bhattacharya, S. K., 3187T Brewer, M. H., 2954M Caluseriu, O., 2766M Chang, S. N., 683S
Bhavani, G.SL., 3097S Briceno, I., 2768S Caminsky, N. G., 1481T Chang, T., 3232T
Bhoj, E. J., 489M Brick, K., 223 Campbell, C., 1546M Chang, X., 1159S
Bhupatiraju, C., 1034M Briggs, S. E. W., 3398S Campbell, C. A., 2328S Chang, Y., 3285M
Bi, W., 1457T, 3059M Brinza, D., 2506T Campbell, I., 3229T Chang, Y. W., 3334T
Biagioli, M., 18 Brito, L. A., 818M Campbell, I. M., 280 Chapman, T., 1296T
Bichet, D. G., 2173S Broadaway, K. A., 255 Campbell, P. T., 3284S Charalsawadi, C., 3208T
Biesecker, B., Session 48, Brody, J. A., 2122M Camper, S., Session 7 Charng, W.-L., 113
2378M Brøner, S., 3043S Canales, C. P., 855T Chassaing, N., 2937T
Biesecker, L. G., Session Bronson, P. G., 496T Cannon, M. E., 911M Chatterjee, S., 909T
48, 2180M Brooks, A., 3390M Cannon-Albright, L. A., Chattopadhyay, K., 3314S
Bigdeli, T., 1064M Brooks, B., 2267T 3230S Chaubey, A., 2548T
Billing-Ross, P., 1508T Brossard, M., 3317S Cao, S., 1366M Chaudhry, A., 2751M
Biray Avci, C., 3444M Brown, A., 257 Caplash, S., 3473S Chaudhuri, A., 3350S
Birkenhager, R., 2750S Brown, B. C., 260 Capo-chichi, JM., 3074M Chavarria-Soley, G., 1716S
Biswas, P., 2993M Brown, L., 1901S Cappetta, M., 3489M Chaves, L.FOB., 2760M
Biton, A., 543T Brown, R., 2960M Capra, J., 408T Chee, M. S., 1682T
SPEAKER AND FIRST AUTHOR INDEX 245
Chen, C., 1303S, 1860S Cienfuegos, J. G., 3220T Crosslin, D., 401 Decker, B., 3354M
Chen, C. H., 3436T Cipriani, V., 384 Croteau-Chonka, D. C., Deforce, D., 2453S

Chen, D., 3322T Cirillo, E., 1631T 1006S De Franco, E., 2546S
Chen, D. P., 1729M Civelek, M., 278 Crouch, J., 2354M Dehghan Banadaki, B.,
Chen, F., 2494T Clark, R., 2729S Cruceanu, C., 1260T 692M
Chen, G., 1756M Clarke, L., 621T Cruz, G. I., 394 Delahaye-Sourdeix, M.,
Chen, H., 1822M Clarke, R., 3448T Cruz, P.RS., 3000T 3225M
Chen, J., 502T, 1519M, Claussnitzer, M., 1500S Cuccaro, M. L., 2375T Delaneau, O., 162
1616T, 2207S Clee, S. M., 1039S Cukier, H. N., 1320T De La Vega, F., 1633M
Chen, J. A., 1193M Codina-Solà, M., 1235M Cullinane, A. R., 237 de Leeuw, N., 192
Chen, J. C., 1476S Cohen, A. S. A., 2710T Culver, B., 2523M Del Favero, J., 2514M
Chen, K., 141 Cohen, N., 3197T Culver, J. O., 2420S de Lima, F. T., 2403S
Chen, K. C., 1721T Colas, C., 3423M Cunningham, J., 3235T Delledonne, M., 1566S
Chen, L., 524M, 1703T Colavincenzo, J., 971M Cunninghame Graham, D. Delot, E. C., 314
Chen, P., 432T, 1011T Cole, J. B., 972T S., 392 DeLuca, D. S., 1669M
Chen, R., 88, 1588M, Cole, M. B., 419M Curnutte, M. A., 2343T De Luca, V., 1175M
1835T, 2432S Coleman, C., 973S Currall, B. B., 36 DeMari, J., 2687S
Chen, W., 1743S, 3351M Colgiu, I. G., 1367T Curtin, J. A., 975T Demetriou, C., 774T
Chen, W.-M., 1843M Colima, A., 2890S Cusanovich, D. A., 580S Demirci, F. Y., 2056M
Chen, X., 3446S Colin, E., 2825S Cutiongco de la Paz, E. C., Deml, B., 2967T
Chenevix-Trench, G., 342 Colleaux, L., 786T 2155S Deng, L., 2000M
Cheng, C. Y., 386 Colli, L. M., 3234M C. Zapico, S., 2317S Deng, Z., 1559T
Cheng, J., 2978M Collins, A., 2965S Czub, B., 3030T den Hoed, M., 2052M
Cheng, Y., 577S Collins, R. L., 334 Czyz, A., 433M Denis, M., 2860S
Cherbal, F., 3476S Colodro Conde, L., 1169M Denomme-Pichon, A.,
Cherny, S. S., 1220M Colovati, M., 2606S 2945M
Chessa, L., 2169S Conboy, E., 2677T D de Paor, A. C., 2344M
Chettiar, S., 1056T Concolino, D., 2275T Deriziotis, P., 1290T
Cheung, S. W., 207 Conde-Pacheco, M., 2202M da Cruz, A. D., 3168T Dermitzakis, E., Session 71
Chevillard, C., 2106M Conley, Y. P., 1163M Dadgar, S., 3105T DeRosa, B. A., 927T
Chheda, H. K., 2124M Connolly, JJ., 772S Dagnall, C. L., 1826T De Rubeis, S., 13
Chi, H., 819T Conomos, M. P., 1807M Dahl, A., 1632S DeRycke, M. S., 3237M
Chiang, C., 44 Conrad, D., 635M Dai, H., 2540S DeSantis, G., 2835S
Chiang, C. W. K., 2034M Conte, M. I., 3037S Dai, H., 1368S, 2026M Deslattes Mays, A., 552T
Chiba-Falek, O., 1306S Conti, N., 3449S Daiger, S. P., 2905S de Smith, A. J., 3287S
Chini, V., 2892T Cooke Bailey, J. N., 1108S Dalageorgou, C., 2141S Desnick, R. J., 4
Chitayat, D., 2660S Cooper, N. J., 617M Daley, D., 434T Deters, K., 1227T
Chiu, C. L., 2168M Cooper, S., 3394T Daly, M., Session 25 Devaney, J. M., 775S
Chiyonobu, T., 2221T Corbin, L. J., 769S Dames, S., 1610T de Vega, W. C., 435M
Cho, E. H., 573T Cordell, H. J., 974M D'Angelo, C. S., 2450S De Vlaminck, I., Session 69
Cho, K., 1870M Cornec-Le Gall, E., 1772T Dannemiller, J. L., 1776S de Vries, F. A. T., 311
Choi, A. L., 751S Cornejo-Olivas, M., 1946M Daoud, H., 2513S Diallo, T., 2638T
Choi, E., 2190M Cornes, B. K., 1482S Daoud, S., 2812S Dias da Silva, M. R., 2985T
Choi, J., 3286T Corominas-Galbany, J., Dargis, N., 2125S Diaz-Gallo, L. M., 1040M
Choi, JS., 3352T 767M Darnell, G., 1510M Diaz-Horta, O., 47
Choi, K., 3146S Corona, E., 1959S Darst, B., 1068T Diaz Martinez, R., 2043S
Choi, S., 969T Corona-Rivera, J. R., Das, A., 3417M Di Bella, D., 1261S
Chong, J. X., 50 2700M Das, D. K., 1297S Dickman, J., 1615M
Chong, K., 2791S Corradin, O., 939T Das, S., 176 Dickson, P., 2185S
Chong, Z., 1447M Corsmeier, D., 2148M da Silva, C. C., 3175T Diderich, K. E. M., 2830S
Choquet, H., 1347T Corvol, H., 3122M da Silva, L. R. J., 2489S Diener, S., 2174M
Choufani, S., 130 Cosco, A., 2197S Da Silva Jose, T. D., 2241T Dimova, I. I., 2118M
Chow, C. Y., 2880T Costa, H. A., 35 Dasouki, M., 3003T Dina, C., 2001S
Chow, E., 1349M Costa, L. S. A., 3159T Davalos, N. O., 2775M Dincer, P., 2903M
Choy, K. W., 2430M Costa, S., 2488T Davis, A., 597T Ding, J., 1739T
Christensen, K. D., 324 Costa Sa, A. C., 732M Davis, E. E., 230 Ding, K., 3386S
Chu, A. Y., 957T Cotsapas, C., 795T Davis, J. M., 1132S Ding, Q., 1965S
Chu, H., 3233S Couch, F., 338 Davis, J. R., 2032M Ding, Y., 2594S
Chu, J., 1080T Coulet, F., 3490T Davis, L., 618T Dinwiddie, D. L., 1076M
Chukka, K., 3447M Coulson, R., 488T Davis, M. F., 1332T Diogo, D., 733S
Chung, B. H. Y., 2759S Courcet, J. B., 3132S Davis, T., 2966M Disteche, C., 494T Session 9
Chung, C., 1069S, 1429M Courtenay, M. D., 1008T Day-Williams, A., 773M Do, R., 189
Chung, J., 789T, 970S Coutelier, M., 1120S de Abreu, F., 3353S Dobbyn, A. L., 1113T
Chung, R., 1841T Coviello, D. A., 3125M Deacon, D. C., 2065S Dobrovic, A., 335
Chung, S. J., 1146T Covington, K. R., 1603M Deak, K., Session 7 Doddapaneni, H., 1693M
Chung, S.-K., 3046S Cox, G. F., 2278M De Albuquerque, R., 858T Dodson, G., 2598M
Chung, W. K., 596M Cox, H. C., 2389S Dean, M., 3418T Dogan, M. V., 436T
Church, D. M., 42 Cozen, W., 3312M de Andrade, M., 1808T Doheny, D., 2584T
Churchhouse, C., 202 Creek, M. M., 1744M de Boer, S., 2911S Dolinsky, J. S., 2541M
Chutake, Y., 527M Cropp, C. D., 1828M DeBoever, C., 3236S Dollfus, H., 2929S
Domenech, L., 1262M Eng, C., Session 70 Finucane, H., 351 Gai, X., 1373T
Dong, C., 2084M, 3355T Eng, C. M., 369 Fiorito, G., 2002M Gail, E. H., 684M
Dorman, S. N., 3450M Eng, K., 1687M Fisch, A. S., 2071S Gajecka, M., 558T
Dorschner, M. O., 1252S Engelhardt, B., 1740S Fisch, G. S., 2651S Galinsky, K. J., 156
Doucet, T. T., 3356S Enns, G. M., 2218M Fisch, K., 1371S Gallagher, C. J., 3240M
Dove, E. S., 2345T Enomoto, K., 2639S Fischer, K., 1760T Gallagher, M. D., 1188T
Downie, J., 1981S Enomoto, Y., 2425T Fischer, S. B., 2492S Gallego, C. J., 326
Doyle, A., 121 Eppig, J. T., 2873M Fisher, J., 1698S Gallegos-Arreola, M. P.,
Drecourt, A. B., 1307M Epping, M. W., 149 Fisher, V. A., 1041T 3291M
Drennan, C., 3238T Epstein, M. P., 28 Fisk Green, R., 2406S Gamage, T. H., 3141S
Drigalenko, E., 1872S Eran, A., 1054S Fitarelli-Kiehl, M., 3424T Gamazon, E. R., 669T
Drong, A. W., 437M Erickson, S. W., 3289T FitzGerald, L. M., 3491S Gambello, M. J., Session 8
Du, M., 30, 776M Erikson, G., 1448T Fjeld, K., 398 Gambin, T., 51
Duan, J., 349 Erlich, Y., Session 6 Flasch, D. A., 284 Gandin, I., 1114S
Duan, Q. L., 708M Ernst, J., 252 Flax, J. F., 1341T Gandolfi, B., 2881S
DuBose, A. J., 2182M Erzurumluoglu, M., 2932S Fleischer, J., 2624S Gandomi, S. K., 2544M
Dudbridge, F., Session 73, Eskin, A., 2212M Fleming, L. R., 2630S Ganguly, A., 3492M
256 Eskin, E., 1886T Flower, K., 3430T Ganguly, B. B., 2451M
Dueker, N. D., 880S Esko, T., 277 Flynn, T., 1042S Ganna, A., 2059S
Dufner-Almeida, L. G., Esmaeeli Nieh, S., 3077M Fokkema, I. F. A. C., 1635S Gao, C., 956M, 1103M,
2565M Esperon Percovich, P., Foley, K., 2321S 1852M
Duis, J., 495M 1358M Fong, J. C., 1254T Gao, F., 2027S
Dumas, K., 598S Esser, D., 3358T Fonseca, A. C. S., 3176T Gao, X., 962M
Dunaway, K., 438T Esslinger, J., 2798S Fonseca, P. A. S., 675T Gao, Z., 1954M
Dung, V., 2560T Ettwiller, L., 1683S Fontes, A. M., 3239S Garcia, A. M., 2773T
Duplain-Laferrière, F., 2820S Eydoux, P., 2656T Forabosco, P., 1851S Garcia, D., 1284T
Dupont, C., 2949T Eyheramendy, S., 1882M Forbes, J., 2355T Garcia, M. R., 2657S
Dupuis, L., 2608T Foreman, A. K. M., 2595M Garcia, O. A., 1982M
Durand, E. Y., 153 Forsberg, L. A., 295 Garcia, R., 3335S
Dutil, J., 3271T F Forster, J. R., 2334M Garcia, S., 2943T
Dutta, S., 3129S Fortney, K., 940S García-González, I. J.,
Duvefelt, K., 2496M Facio, F., 2397S Foster, J., 2908S 2036M
Duz, M., 3357M Faivre, L., 2915M Fowler, D. M., Session 71 García-Robles, R., 2857S
Dworniczak, B. P., 1686S Fakhrai-Rad, H., 1661T Fox, J., 714M Garieri, M., 556S
Dykxhoorn, D., 2200M Fakhro, K. A., 2816S Fox, K., 599M Garraway, L. A., Session 70
Falik-Zaccai, T., 3067S Francescatto, L., 3415T Garrison, N. A., 2331T
Fallet, S., 2294M Franceschini, N., 752M Gasperikova, D., 2292M
E Fan, J., 3323S Francisco, V., 2418S Gassmann, M., 1437S
Fan, Q., 799S Franco, B., 2718M Gattas, G.JF., 3419S
Ebbert, M., 1969S Fan, S., 1147S Frank, C. L., 163 Gaulton, K. J., 58
Echevarria, L., 2254M Fan, W., 3215T Franke, A., 952S Gauthier, J., 2471S
Eckart, N., 1316M Fang, H., 1567M Frankish, A., 159 Gauvin, H., 2024M
Eckl, K. M., 2209S Fang, L. T., 1509S Franklin, C. S., 950M Gazzellone, M. J., 1218T
Economides, A. N., 2866S Fang, Q., 2955T Fraser, J. L., 2265T Ge, J., 869M
Edge, M. D., 2018M Fang, S., 3290S Freitag, D. F., 57 Ge, X., 632M
Edwards, K. L., 761M Farhan, S. M. K., 2912M French, C. E., 403 Gecz, J., 117
Ehmsen, J. T., 1275T Farlow, J. L., 1253M Fridman, C., 1944M Geister, K. A., 2870M
Ehwerhemuepha, L., 1723M Farrell, J., 1453M Frikha, R., 2809S Geller, F., 79
Eicher, J. D., 1176T Farrow, E. G., 1504M Fritsche, L. G., 387 Gellera, C., 1219S
Eike, M. C., 1483M Farwell Gonzalez, K. D., Fromer, M., 347 Gennarino, V. A., 72
Einarsdottir, E., 2896S 2456S Frullanti, E., 3451T Gentil, C. A., 2863S
Ek, W. E., 439M Fathzadeh, M., 2074M Fu, A. Q., 1938M George, A., 2752T
Ekici, A. B., 3009T Faucz, F., 379 Fu, J., 1079M George, R., 2808S
Ekker, S. C., Session 10 Favé, M-.J., 1958M Fu, X., 440T Gerber, E., 2872S
Ekstrøm, C., 1369M Fawcett, G., 1666M Fuchsberger, C., 151 Gerber, M., 3241T
Elasrag, M. E., 2920S Feenstra, B., 74 Fujimoto, A., 134 Germain, D. P., 364
El-Bassyouni, H., 2658M Feingold, E., 943S Fukuoka, M., 536M Germain, M., 945T
El Boueiz, A., 958S Feitosa, M. F., 918T Fungtammasan, A., 1372M Germer, S., 1694T
Elias, A. F., 2655M Feliciano, P., 2283T Furgason, J. M., 3346T Gerstein, M., Session 4
El Khattabi, L., 2659T Fellay, J., 2335T Furlotte, N., 1050T Getz, J. E., 3493T
Ellard, S., 2468S Fellmeth, J. E., 2807S Fusco, F., 2994T Ghaffari, G., 600T
Ellinghaus, D., 2104M Feng, B., 1370T Fusi, N., 169 Gharahkhani, P., 3494S
Elliott, K. S., 798T Feng, S., 22 Ghazavi, N., 2449T
Ellis, S. E., 1245T Feng, X., 1634T Ghosh, S., 1671S
El Rouby, N., 702M Fenwick, A. L., 2730M G Ghoussaini, M., 3226T
El-Sayed Moustafa, J. S., Ferri, L., 2296M Gianfrancesco, F., 3441M
1096S Ferriero, R., 2175S Gaasterland, T., 90 Gianfrancesco, M., 1038T
El-Shanti, H., 2893S Figueiredo, T., 2979T Gaddis, N. C., 1177S Giannuzzi, G., 3177T
Emami, N., 3288M Fiksdal, A., 2332M Gadomski, T. E., 2248M Gibbs, D. C., 2609S
Emmett, W. A., 551M Findlay, G. M., 329 Gagliano, S. A., 1748T Gignoux, C. R., 2864S
Gilissen, C., 49 Grati, M., 2882M Hager, V., 1735M Hedges, D. J., 2127S
Gill, N., 2172M Gravel, S., 106 Haghigatfard, A., 1345S Heeley, J., 2704T

Gilliam, D., 2044M Gray, S., Session 11 Hahn, C., 1793T Hegde, M., 2230M
Gillis, J., 2269T Greenlees, R., 2879M Hahn, S., 2527T Heidary, M., 138
Gilmore, M., 2376M Greer, S., 3359S Hakonarson, H., 1522M Heilmann, S., 1119T
Gimelbrant, A., 499M Greger, V., 2796S Hakosalo, O., 1178M Heinrich, V., 1377S
Gimenez, L. G., 2851S Gregory, S. G., 396 Hall, A., 2756S Heitzer, E., 3410S
Gingeras, T. R., 542M Griesi-Oliveira, K., 1291S Hall, J., 1875S Helle, J. R., 3078T
Giovanella, J., 1043M Griffin, L. B., 1308T Hall, M. A., 1036S Hellwege, J. N., 1093S
Giovanni, M. A., 319 Grisolia, M., 2259T Haller, G., 179 Helman, E., 1486M
Giovannucci Uzielli, M., Griswold, A. J., 1376T Haller, M., 3012T Hemmrich-Stanisak, G.,
2665T Grochowski, C. M., 2712M Hamdan, F. F., 2931T 562S
Giraldo, G., 1520T Grønskov, K., 2921M Hamel, N., 3425S Hendricks, A. E., 777T
Girard, E., 65 Gross, J., 443M Hamid, M., 2479T Heredia, N., 1695S
Giri, A., 844S Gross, S. M., 568S Hamilton, J. G., 2384S Hernandez, W., 2092M
Girirajan, S., 191 Grove, M. L., 842M Hamilton, K. L., 197 Hernandez-Amariz, M. F.,
Gjesing, A. P., 893M Grubert, F., 238 Hamon, J., 1874T 2249T
Glassberg, E., 1947S Gruhn, J., 224 Hamosh, A., 172 Hernandez-Bello, J., 1026T
Glazer, D., Session 3 Gu, S., 308 Hampe, J. E., 424T Hernandez-Garcia, A.,
Glessner, J. T., 182 Gu, Y., 2225T Han, B., 258 3147S
Glicksberg, B. S., 1552M Guan, M., 762T Han, E., 1501M Herrera-Salazar, A., 1321S
Glogowski, E., 2368M Guan, P., 1717M Han, H., 1563S Heselmeyer-Haddad, K. M.,
Glubb, D. M., 336 Guan, W., 1784T Han, P., Session 48 3477M
Glusman, G., 40 Guan, Y., 1745T Han, Y., 3243M Hess, K., 678T
GO, M., 976S Guauque-Olarte, S., 2142M Hancock, D. B., 243 Heydarpour, M., 2109S
Goddard, KAB., 3495M Gudbjartsson, D. F., 2022M Handsaker, R., 603T Hicks, B., 1688T
Godfrey, M., 322 Gudmundsdottir, V., 1549M Hanein, S., 2536T Hicks, C., 1378M
Goker, B., 3452S Guella, I., 1124M Hangul, C., 3336M Hicks, J. E., 1092T
Golan, D., 1788S Guenat, D., 3486M Hanna, D. S., 1363M Hiekkala, M. E., 1263T
Gold, N. B., 2369T Guerin, A., 2648S Hannah, W. B., 2891M Hill, T. M., 1711M
Goldfeder, R. L., 1506S Guerreiro, R., 1248T Hänninen, U. A., 3365S Himmelstein, D., 1073M
Goldin, L. R., 3324M Guettouche, T., 1620S Hansen, J. N., 71 Hindorff, L. A., 977M
Goldstein, A. M., 748S Guffanti, G., 601S Hansen, M. E. B., 575M Hinds, D. A., 1005T
Goldstein, J. I., 399 Guidugli, L., 3413S Hanson, H., 3420M Hirsch, J., 1636M
Gole, L., 3195T Guilherme, R. S., 3206T Hanson, R. L., 894T Hitomi, Y., 790S
Golhar, R., 1374S Guillen Ahlers, H., 515M Hao, K., 3326S Ho, Y.YW., 978T
Gollery, M., 1484T Guimaraes, P.EM., 520S Haraksingh, R. R., 604S Hobson, G. M., 2869S
Gollub, J., 1601T Guipponi, M., 110 Hare, A. E., 208 Hochner, H., 933T
Golzio, C., 584M Gujral, M., 602M Hariharan, R., 1485S Hochreiter, S., 2004M
Gomide, H. M., 1276S Gulsuner, S., 1206T Harismendy, O., 3360M Hodgkinson, A., 547S
Goncalves, F., 871S Gunda, P., 917M Harmanci, A., 581M Hodgkinson, K., 2156M
Gonsalves, S. G., 2226M Guo, C., 850S Harney, L. A., 3164T Hoefsloot, L. H., 315
Gonzaga-Jauregui, C., 73 Guo, D., 2037S Harrell, M. I., 3361T Hoffman, E. P., 1626S
Gonzalez, M., 1672M Guo, J., 3072T Harrington, E. A., 2301T Hoffman, G. E., 666T
Gonzalez Santos, J., 2222M Guo, S., 1430T, 2201S Hartiala, J., 2091S Hoffman, J. D., 1071T
Gonzaludo, N., 719S Guo, T., 2140M Hartikainen, J. M., 3457T Hoffmann, R., 1752S
Good, B. M., 1375M Guo, W., 1813M Hartshorne, T., 738M Hoffmann, T., 2085S
Goodman, S. J., 441M Guo, Y., 1170T, 1868T Hasin, Y., 658S Hofstra, R., 3041M
Gopalakrishnan, S., 1277M Gupta, A., 3325T, 3454T Haskell, G. T., 2126M Holingue, C., 753T
Gopalan, S., 442T Gupta, R., 1611S Hassed, S., 290 Holland, C., 2555S
Goracci, M., 500T Gurdasani, D., 174 Hatano, C., 1278T Holm, I., 2357T
Gorce, M., 2640M Gusev, A., 936T Hatton, E., 5 Holohan, B., 380
Gordon, A., 720M Gustavsson, E. K., 1077T Hatzikotoulas, K., 1179T Holzinger, E. R., 742S
Gordon, C., 2938S Gutiérrez-Malacatt, H., Hause, R. J., 247 Homburger, J. R., 1915S
Gordon, L. N., 3453M 3455S Hauser, N., 2217T Hong, C. S., 605M
Gorijala, B. C., 881M Guzel, E., 3456M Hawwari, A., 2997T Hong, D., 1273S
Gorman, E. B., 2483S Gymrek, M., 661S Hayashi, S., 269 Hong, K., 1621M
Gormley, P., 75 Hayeck, T., 1746S Hong, M., 953M
Gorski, M., 1014T Hayeems, R. Z., 2339T Hood, R. L., 3034S
Gosset, N., 118 H Hayes, J., 3292T Hook, D., 2297T
Goto, M., 3170T Hayes, M. G., 1099S Hook, E. B., 2616M
Gourna, E. G., 2356M Haag, C., 1521S Hazra, A., 3402M Hooker, G., 2422T
Govindavari, J., 2307S Habashi, J. P., 363 He, J., 137 Hooker, S., 177
Goyal, S., 2887S Haddad, B. R., 320 He, M., 146 Hor, C. N., 919S
Graff, M., 181 Haddad, R. A., 2330M He, X., 1732M Hor, H., 69
Graham, B., 2299T Hadid, Y., 3242S He, Z., 1832T Hore, V., 262
Graham, R. P., 3508T Hadipour, F., 2295T Healy, J., 3362S Horii, A., 3244T
Grandhi, S., 1558M Hadjidekova, S. P., 2645S Hebbring, S. J., 168 Horikoshi, M., 1090S
Grange, D., 2711S Hadjixenofontos, A., 1085M Heckerman, D., 1458S Hormozdiari, F., 1228S,
Granka, J. M., 2003S Hagelstrom, R. T., 2484M Hedayati, M., 3363M 1794S
Horne, B., 188 Iglesias Gonzalez, A. I., Jha, A. R., 1960M Karaca, E., 45, 3459M
Horovitz, D.DG., 2404S 811S Jhaveri, S., 2702S Karczewski, K. J., 85
Hosen, M. j., 1551S Ikari, K., 816T Ji, J., 310 Kariuki, S. N., 983M
Hosomichi, K., 2480S Ilagan, B. J., 2784M Ji, S., 980M Karlin-Neumann, G., 1670T
Hosseini, M., 3293S Im, H. K., 1769T Jia, P., 3366M Karlsson, E. K., 11
Hosseini, S., 946S Imagawa, E., 2214M Jian, X., 1488S Kashimura, A., 884M
Hosseini, S. A., 2270M Imai, A., 2143S Jiang, J., 1327S Katsanis, N., Session 10
Hossein-nezhad, A., 503M Imanishi, T., 1381M Jiang, Q., 3367T Kattman, B., 1523T
Houtman, M., 820S Imbachi, L. F., 2610M Jiang, Y., 1836S, 1885M Katz, A., 2157S
Hovatta, I., 1190M Imtiaz, A., 2946T Jiao, H., 802S Kauffman, T. L., 2795S
Howrigan, D., 343 Inagaki, H., 498T Jin, H., 2553M Kaufman, D., 215
Hoyt, K. L., 1160M Inamine, T., 821M Jin, Y., 89 Kaufman, J., 1679T
Hrebicek, M., 2244M Inche, A., 801T Jobling, R., 2837S Kaur, A., 3118S
Hsi, E., 444T Inglese, J., Session 8 Jodczyk, S., 1325M Kaur, A., 2800S
Hsiao, CF., 3245S Ingram, M. A., Session 5 Joensuu, A., 1017T Kaur, H., 2416S
Hsiao, M., 309 Inoue, K., 114 Johansson, H., 1701S Kaur, M., 2006M
Hsieh, P., 108 Ioannidis, N. M., 528T Johansson, S., 3079S Kaur, N., 1015S
Hsu, A. P., 2995S Ionita-Laza, I., 1722S Johnson, A. M., 3248S Kaur, T., 877S
Hsu, C., 1459M Iossifov, I., 14 Johnson, E. O., 822T Kaustio, M., 2999M
Hsu, C. J., 2950S Iotchkova, V., 1747M Johnson, M. E., 1651M Kavasoglu, A., 2683T
Hsu, Y., 180 Iqbal, Z., 1282S Johnson, R., 1502T Kawai, Y., 2007S
Hsueh, W.-C., 26 Irving, M. D., 2713T Johnson, T. A., 981T Kay, C., 2208M
Hu, C., 1027S Isasi, R., 2336M Johnston, H. R., 624T Kayoko, T., 3403T
Hu, H., 1379T, 1891S Ishihara, N., 2688M Johnston, J. J., 46 Keating, B. J., 2510S
Hu, L., 1720M Ishiura, H., 2916T Jones, S. J., 3496T Keaton, J. M., 839M
Hu, X., 393 Ito, S., 2836S Jonsson, A., 836M Keen, JC., 677M
Hu, Y., 963T Iverson, C. C., 3458S Joo, J. W., 1383S Keene, K. L., 414T
Hu, Y. J., 1761S Iyer, J., 193 Joosten, M., 2838S Kehdy, F., 1905S
Huan, T., 656M Iyer, R. K., 2472M Jorgenson, E., 1180S Kehr, B., 38
Huang, A., 2646M Izumi, K., 3026M Joseph, G., 325 Kehrer-Sawatzki, H., 607S
Huang, H., 1097M, 2806S Joshi, A. D., 271 Keinan, A., Session 9
Huang, J., 184, 2220M Joshi, P. K., 1091M Kekis, M., 3209T
Huang, K., 851M J Jostins, L., 1066S Kellis, M., Session 73, 239
Huang, M., 1935S Jouan, L., 1264S Kennedy, A. E., 1028M
Huang, S., 1955S Jaafar, Z.MT, 3186T Jougheh Doust, S., 1547T Kennemer, M., 1431S
Huang, W., 1380S Jackson, L., 1487T Jouni, H., 2396S Kenny, E. E., 1906M
Huang, Y., 1568T Jacobs, M. M., 1148M Ju, W., 1164T Kent, J. W., 1037M
Huang, Z., 1593S Jacobsen, J., 2744S Juárez, A., 2245T Kenyon, C., 2839S
Huber, C., 3098M Jacquemont, S., 211 Jun, G., 1181M Kerr, I. D., 2440T
Huckins, L. M., 1161T Jakubek, Y. A., 1606M Jung, J., 982S Keyser, M., 1569S
Huentelman, M. J., 1335T Jalas, C., 2821S Jung, Y., 2832S khajuria, r., 2239T
Huerta-Sanchez, E., 1966M Jamal, L., 2358M Jurgens, J., 2224M Khalifa, M., 2722T
Huffman, J. E., 2086M Jamal, S. M., 218 Jurkowska, M., 2457M Khan, N., 366
Hufnagel, R. B., 267 Jamaldini, S.Hamid., 2128M Justice, A. E., 763S Khan, S., 2956S
Huggins, W., 1012S James, P. M., 2236M Justice, C. M., 889S Khan, W. A., 3162T
Humphries, C., 1292M James, R., 1382T Juthe, R., 2319S Khatib, F., Session 6
Hung, I. H., 3144S Jamshidi, J., 1149T Khawajkie, Y., 2312S
Hunter, J. E., 2543S Jamuar, S. S., 2770T Kheradpour, P., 529S
Hunter, J. M., 2899S Janatova, M., 3246M K Khoja, H., 2426S
Huntington, N., 2372M Janavicius, R., 3247T Khor, S., 1489M
Huq, A., 1221T Jang, S., 2782T Kaartokallio, T., 808S Khoury, M., Session 3
Hurtado, PM., 2705S Jang, S. Y., 411M Kahrizi, K., 3075T Khromykh, A., 2739M
Hurtado-Hernadez, l., Januszkiewicz-Lewandows- Kamakari, S., 3128M Khurana, E., 1637T
3158T ka, D., 3399M Kamath, N., 2986S Kichaev, G., 868S
Husain, M., 2774S Järve, M., 1894M Kambouris, M., 2894M Kido, T., 3134S
Hutchinson, R. G., 3199T Jasinska, A. J., 662M Kameli, R., 2076M Kilpeläinen, T. O., 1044T
Huyghe, J. R., 355 Javadiyan, S., 388 Kamitaki, N., 1754T Kim, B., 608M, 984T,
Hwang, J., 947M Jaworski, J., 1135S Kammin, T., 305 1983S, 3142S
Hwang, JH., 3364T Jay, F., 2005S Kan, S. H., 2195S Kim, C., 954T, 2231T
Hwang, K. J., 685S Jeff, J. M., 402 Kaname, T., 2682M Kim, D., 359
Hwang, Y.-C., 164 Jeffries, A. R., 490T Kaneko, Y., 3277T Kim, G., 2749T
Hytönen, M., 2875S Jenkins, E. C., 3163T Kang, E., 1753M Kim, GY., 2196M
Jenkins, G., 1853T Kang, H., 1594M Kim, H., 413M, 2538M
Jenkins, M. M., 1802T Kao, C., 606T Kim, H. J., 445M
I Jenkins, S. E., 2400S Kapalanga, J., 1137T Kim, HL., 1991S
Jenks, A., 2304S Kaper, F., 3178T Kim, J., 674M, 3114T
Iakoucheva, L. M., 1298M Jeong, C., 979S Kaphingst, K. A., 2359T Kim, J. H., 1490T
Ibrahim, A., 485M Jerde, C. R., 693S Kaplanis, J., 1837M Kim, K., 491M
Igartua, C., 929M Jerome, J. P., 1696M Kapoor, A., 1030S Kim, K. W., 985S
Iglesias, A., 3039T Jervis, G. A., 2554T Kar, B., 3213T Kim, S., 647M, 1438M,
2854S Kruszka, PS., 2731T Laufer, B. I., 510T Li, A. H., 100
Kim, S. Y., 446T Kryukov, K., 1599S Laukaitis, C. M., 3272S Li, B., 1736T

Kim, T., 3223T Ku, Y., 2008M Laurino, M. Y., 2361T Li, C., 1856T
Kim, Y., 3099T, 3193T, Kuang, S. Q., 122 Lauson, S., 2066M Li, D., 791M
3388T Kuchikata, T., 2611T Lavoie-Charland, E., 1020T Li, H., 638M, 987T, 2515T
Kim, YM., 2246M Kukurba, K., 652S Law, H., 2668T LI, H., 523S
Kim-Howard, X., 823S Kullo, I. J., 2130M Law, M. H., 3294M Li, J., 988S, 1355M, 1795M,
Kimmel, S. E., 2566T Kulzer, J. R., 60 Law, W., 533M 1971S, 2467T
Kimonis, V. E., 2689T Kumar, A., 3062M Layer, R. M., 87 Li, L., 694M
Kingsmore, S. F., 2577M Kumar, P., 3396M Lazar, M., 2458T Li, M., 1876M
Kinrich, A. M., 2272M Kumar, R., 1849M Lazaridis, I., 102 Li, MJ., 1639M
Kirkpatrick, B. E., 2415S Kumar, S., 2804S Lazarin, G. A., 2801S Li, Q., 1840M
Kirtas, E., 2649M Kumar, S., 537T Lazier, J., 2840S Li, R., 504T
Kizys, M. M. L., 2957M Kumar, V., 825T Le, S., 2280M Li, S., 449M, 1112M
Klambauer, G., 1584S Kumar, Vanita., 1016M Leak, T., 645T Li, T. C., 845M
Klar, J., 875M Kumari, P., 2695T Leal, S. M., 204 Li, W., 688M, 922S, 1774M,
Klimentidis, Y. C., 1045S Kumasaka, N., 1881S Lebedev, I., 3188T 2525S
Klovins, J., 824M Kundu, K., 1456M Le Caignec, C., 2045S Li, X., 663T
Kmoch, S., 3013S Kunkle, B. W., 1236T Le Clerc-Blain, J., 2408S Li, Y., 538S
Knight, J., 686M Kural, D., 1384M Lederer, D., 2587T LI, Y., 1387M
Knight, S., 2166M Kurihara, L., 1623S Leduc, R. Y. M., 3148S Li, Y. R., 986M
Knight Johnson, A., 1330S Kuroda, Y., 2693S Lee, A. S., 222 Liao, K., 1984M
Knoppers, B. M., 2351T kushmakar, s., 2329S Lee, B., 1491S, 2298M Liao, L. N., 846T
Knowles, D. A., 521M Kvikstad, E. M., 63 Lee, B. N., 1708M Liao, W., 1439T
Ko, A., 183 Kvitek, D. J., 2508M Lee, D., 1385T, 1386S, Libiger, O., 1916M
Ko, EK., 2813S Kwan, J., 1773S 1762M Lihm, J., 1388T
Koboldt, D., 32 Kwasniewska, A. C., Lee, D. E., 2827S Likins, L., 1933S
Kocarnik, J. M., 2352M 1689S Lee, H., 370 Lim, B., 2841S, 3368S
Koch, E., 1961S Kwee, L. C., 447M Lee, J., 2256M Lim, E. T., 1234S
Kodera, H., 2939M Kwitek, A. E., 721S Lee, K., 1550T Lim, J. E., 2097S
Kodira, C., 333 Kwong, A., 385 Lee, M., 2593T Lim, J. H., 505M
Koduru, P., 3337T Kyle, S. M., 360 Lee, M. P., 412T Lim, J. S., 76
Koenig, B. A., Session 74, Kyöstilä, K., 3068M Lee, SY., 548M Lima, L. A., 1525M
2360M Lee, W., 41 Limgala, R., 2186M
Kohda, M., 2983S Lee, Y., 1758S, 1780M, Lin, D., 1880T
Koike, A., 1638S L 2867M Lin, E., 1713S
Kojima, K., 1454T Lefebvre, M., 2362M Lin, H., 1770S
Kolicheski, A., 3066T Labbé, C., 1151M Lehmann, K., 3295T Lin, K., 1842S
Kondkar, A., 585T Laberge, A. M., 2158M Lehne, B., 448T Lin, N., 1677S
Kong, X., 509M, 2053S Labonne, J. D. J., 2654S Lehnert, K., 3115S Lin, W., 1838T
Konkel, M. K., 286 Lafreniere, R. G., 1222S Lei, Y., 766S Lin, Y., 1087S
Konvicka, K., 1455S Lager, A., 2198M Leinonen, J. T., 906T Lin, Y. H., 2944S
Kooy, F., 1338T Lai, P. S., 3216T Lek, A., 2876M Lincoln, S., 2444S
Kopajtich, R., 143 Lai, S., 3250T Lemay, P., 1070M Lind, L., 1548S
Koparir, A., 2958T Lai, Y. Y. Y., 673S Lemmelä, S., 826S Lindhurst, M. j., 2769M
Koparir, E., 2578T Laig, M., 1714M Lemmers, R. J. L. F., 481M Lindor, N. M., 3497S
Korbel, J., Session 4 Lam, E., 609T Lemus-Varela, ML., 2080M Lindstrand, A., 892S
Korenberg, J. R., 2621S Lamontagne, M., 813T Leongamornlert, D. A., Lindstrom, S., 1796T
Korlach, J., 1622T Lan, X., 1932M 3251S Linghu, B., 1389S
Korvatska, E., 907S Landrum, M. J., 3506S León-Moreno, L. C., 2020M Linker, S., 534T
Kosaki, K., 2423S Lane, J., 1524S Lerner, B., 2409S Links, A. E., 2592M
Koshimizu, E., 2740T Lane, J. M., 872M Lesage, S., 1143T Linse Peterson, G., 205
Kosho, T., 2170M Langefeld, C. D., 1970M Leslie, E. J., 867T Lipinski, S., 2255T
Koskenvuo, J. W., 2129S Langouet, M., 1344T Leslie, S., 104 Lipner, E. M., 1065T
Kosmicki, J. A., 1204S Lanni, S., 3025S Lesmana, H., 2785T Liu, C., 588T, 695S, 1898M,
Kosuga, M., 2279T Lansdorp-Vogelaar, I., Lesnick, J. D., 1690M 2099S
Kote-Jarai, Z., 3249M 2390S Lessard, S., 755M Liu, D., 199
Kottyan, L., 856S Lapointe, G., 2380M Lesueur, F., 3478T Liu, F., 2038M
Kousa, Y. A., 3137S Lappalainen, I., 626M Leung, M. L., 64 Liu, H., 2996M, 3033T
Kousi, M., 670S Lappalainen, T., 241 Leung, T., 226 Liu, J., 1771M, 3189T
Kraja, A. T., 1660M Larsen, L. A., 2159S Leunge, Y.Y., 540T Liu, K., 2877T
Kremer, L., 2234M Larson, N. B., 530M Levesque, S., 2229T Liu, P., 2741S
Kretzschmar, W., 150 Larson, P. A., 285 Lévy, J., 3165T Liu, W., 3404S
Kriebel, J., 417M Lasko, P., 2398S Levy, P. A., 2276M Liu, X., 1207S, 1985S,
Kriek, M., 2305S Lasky, B. J., 3327M Lewis, D., 837T 2009S, 2814S
Kripke, D. F., 1150S Lasky-Su, J., 1854S Lewis, J., 687S Liu, XZ., 2498S
Krjutskov, K., 1700T Lasseigne, B. N., 3460T Lewis, K. L., 2371T Liu, Y., 610S, 2818S, 2941S
Kroisel, P. M., 3056M Lattanzi, W., 2776T Lewis, M. J., 397 Liu, Z., 2098M
Kruczek, P. M., 3036T Lattig, M., 1337M Lhota, F., 3252M Llewellyn, K. J., 2210M
Kruisselbrink, T. M., 2385S Lau, Y., 3155S Lhotska, H., 3434S Lnu, A., 1604T
Lo, C., 1440S Magri, S., 1266T Maurano, M. T., 158 Mhlanga-Mutangadura, T.,
Lo, K. S., 778S Maguire, J., 1442T Maxwell, K. N., 3273M 3063T
Lo, Y. M. D., Session 69 Mahajan, A., 852T Maya, I., 2306S Micale, L., 3022S
Lo, Y. Y., 1806S Mahdieh, N., 2568M Mazurova, S., 3109S Michailidou, K., 3254S
Locke, A. E., 275 Maher, G. J., 225 Mazutti, M. G., 1267S Michelson-Kerman, M.,
Loeza-Becerra, F., 2025S Maihofer, A. X., 1182T Mazzotti, D. R., 828T 2614T
Lofgren, S. E., 1052M Maiti, A. K., 904S McCarroll, S., Session 4 Michot, C., 3110M
Logue, M. W., 849T Majid, S., 713S McCarthy, S. A., 86 Middha, M., 2502M
Loguercio, S., 1441M Majithia, A., 66 McClay, J. L., 451M Middha, S., 368
Loh, M., 187 Majolini, M., 2516S McClelland, K., 2232M Miga, K. H., 1586T
Loh, P., 200 Mak, A. C. Y., 676S McDonald, M., 1082M Migita, O., 611M
Lohmueller, K. E., 2010M Makalic, E., 3315M McDonald-McGinn, D. M., Mignot, E., Session 72
Loken, E. K., 1265M Makishima, S., 2069S 306 Mijatovic, V., 1562T
Lomash, A., 2237T Makrythanasis, P., 2799S McDonnell, SK., 1815S Mikhaleva, A., 1152T
Long, P. A., 2968S Malhotra, D., 1237S McDowell, I., 650M Mikheev, M., 1392S
Loo, J., 1936M Malinowski, J., 2414S McEachin, R. C., 1058M Mikkelsen, T., Session 71
Lopez, J. P., 1352M Mallick, S., 109 McElwee, J., 84 Mila, M., 2487M
López Quintero, A., 1907S Maltsev, N., 1390M McGeachie, M., 990T Milan, D. J., Session 10
Lose, F., 3253T Mancini, G. M. S., 3080M McGee, S., 1503S Milani, C., 452T
Lotta, L. A., 840T Mancini-DiNardo, D., 3499T McGuire, A. L., Session Milani, L., 453M
Lou, H., 3405M Mandal, D., 3500S 11, 221 Miles, J. H., 2171S
Lourenco, C., 2291T Mangul, S., 1333S McGuire, P. J., 2286M Milko, L. V., 2586M
Low, S., 3296S Manickaraj, A., 2107S McHugh, C., 1850T Miller, F. A., 2395S
Lowdon, R. F., 1473S Manjegowda, D. S., 964S McHugh, P. C., 1283M Miller, J. M., 2391S
Lowther, C., 1125T Mankoski, R., 2281T McLaren, P. J., 863M Miller, M. J., 373
Lozano, R., 1360S Manley, W., 1304M McLean, J., 2363T Miller, N., 2233T
Lu, A., 1555M Mannermaa, A., 555T McMichael, G., 754S Millot, G. A., 2435S
Lu, D., 2011S Männik, K., 612T McRae, J., 1889T Mills, R. E., Session 4
Lu, F., 3406T Manning, A. K., 56 McVicker, G., Session 75 Millwood, I. Y., 2164M
Lu, I., 2567S Manoli, I., 2266M Mead, C. L., 2524T Milo Rasouly, H., 3015T
Lu, Y., 272, 1945S, 3297M Manrai, A. K., 2473T Mechanic, L. E., 3393M Miltgen, M., 1393M
Luca, F., 648T Mansour, H., 1133M Medina, I., 1451T Milunsky, J., 2427M
Ludwig, K. U., 78 Manz, J., 913S Medland, S. E., 1328M Mimendi Aguilar, G. M.,
Luedeke, M., 3498M Manzardo, A. M., 1126S Medne, L., 3081T 1029T
Luetkemeier, E., 214 Maples, B. K., 1908M Meduri, E., 549T Min, B., 2552S
Lum, P., 1673T Marble, M., 2634M Meeks, N. J. L., 2569T Mina, E., 1640T
Luo, J., 916S Marceau, R., 1857S Mefford, J., 1863S Minari, J., 2346M
Luo, M., 3185T March, M. E., 703S Mehawej, C., 133 Minasi, L. B., 3210T
Luo, Y., 358 Marchini, J., 24 Mehrjoo, Z., 1208M Minikel, E. V., 1255S
Luostari, K., 3431S Marcou, C. A., 3338S Mehrtashfar, S., 2070M Minster, R. L., 1884S
Lutz, M. W., 1553T Marcus, J. H., 2012M Mehta, A., 1463T Miozzo, M., 3432M
Lutz, s., 1847T Marigorta, U. M., 1861M Meijers-Heijboer, H., Mirabello, L., 297
Ly, K. N., 926M Marin-Melo, J., 2767T 2802S Miroballo, M., 1917S
Lynch, D. C., 3108T Markello, T. C., 2303S Meissner, T., 1432M Mirtavoos-Mahyari, H.,
Lyon, G. J., 3021T Markunas, C. A., 450T Melaragno, M., 2615S 2794S
Marques, C. S., 827M Melas, M., 3501M Mirzaa, G., 2988T
Marques, F. A., 3207T Melegh, B., 739S Mishra, A., 829S
M Marschall, C., 2545T Melki, J., 263 Mishra, K., 3407S
Martin, A. R., 1962M Melo, M. B., 1896M Mistri, M., 2240M
Ma, C., 1730T Martin, E. R., 1786M Meltz Steinberg, K., 628S Mitchell, S. L., 1305T
Ma, D., 2625M Martin, H. C., 672T Mencarelli, M., 231 Mittal, B., 2054M
Ma, Q., 938M Martin, N. G., 941M Mendez, F. L., 1899S Miyagawa, T., 1127M
Ma, S., 1589T Martin, O., 2382M Méndez'Hernández, A., Miyake, K., 2517M
Mabuchi, F., 1031M Martinelli, D., 2290M 3461S Miyake, M., 928S
MacArthur, D. G., 94 Martinelli Boneschi, F., Mendiratta-Vij, G., 2746T Miyake, N., 126
Macciardi, F., 1272T 908M Mendoza-Londono, R., Miyatake, S., 1331M
Macedo, W. C., 1142M Martinez, J., 722M 2684S Mizuno, S., 2672S
Macgregor, S., 989M Martinez Lopez, M., 814S Mentch, F., 1268M Mo, H., 704M
Machado, M., 1570M Marvin, C. T., 3117T Mentoor, J. L. D., 3369M Moens, C. B., Session 10
Machaj, A., 3426M Marycheva, N. M., 2661M Mentzer, A. J., 707S Mohamed, A., 3211T
Machida, J., 743M Mashl, R. J., 1678M Merideth, M., 289 Mohan, S., 3462M
Machiela, M. J., 3179T Masino, A., 1718T Mersha, T. B., 1556T Moisan, S., 517S
Machini, K., 2455T Mason, A. G., 531T Messemaker, T., 541S Moitra, K., 2322S
Maciukiewicz, M., 701S Matoba, N., 1216S Metlapally, R., 506T Molineros, J. E., 1918M
Madar, A., 254 Matos, A. H. B., 1165S Metodiev, M., 145 Mollaei, H., 3412T
Madeo, M., 1240S Matsumoto, N., 2940T Meyer, A., 3437S Molloy, B., 890M
Madrigal, I., 2742M Matsuo, H., 1110T Meyer, K. B., 1433T Moltke, I., 895S
Maftei, C., 2790S Mattapally, S., 2039S Meyn, M. S., 2493M Monfared, N., 2338M
Magalhães, W., 1526T Matvienko, M., 1391T Mez, J., 1194T Monies, D., 2989S
Magi, R., 770M Matyakhina, L., 3171T Mezlini, A. M., 1657M Monroe, G. R., 2570S
Montenegro, M. M., 566M Naj, A. C., 196 Nilbratt, M., 3044M Org, E., 576T
montiel, m., 2662T Najmabadi, A., 2690S Niranjan, T., 1311T Ori, A. P. S., 456T

Moore, J., 1527S Najmabadi, H., 115 Nishi, E., 2666S O'Rielly, D., 920M
Moorjani, P., 1939S Naka, I., 1952M Nishida, A., 2181S Orkin, S. H. H. H., Session
Mora, L.Ma., 2706M Nakada, T., 830M Nishida, N., 1022M 26
Moreira, D. P., 747T Nakagawa, S., 1923S Nishikawa, S., 2019S Orkunoglu-Suer, F. E.,
Moreno, C. A., 2951M Nakamura, A., 2199S Nishiyama, T., 1171S 2475M
Moreno-Ortiz, J. M., 3255M Nakamura, R., 1224T Nishizawa, D., 1183S Ortega, R., 2263T
Morihara, T., 1285S Nakamura, S., 2192M Nissen, A. M., 3256T Ortega Del Vecchyo, D.,
Morini, E., 361 Nakano, M., 991S Niu, N., 691S 1974M
Morino, H., 1256M Nakaoka, H., 901S Niu, Z., 2459S Ortiz, D., 2619M
Morisada, N., 3008M Nakashima, M., 1214M Nizetic, D., 3347S Osborne, C. M., 2308S
Morisaki, H., 2131S Nakhleh, L., 1893S Noël, V., 2348M Ostrander, E., 749M
Morishita, S., 1665S Nakka, P., 1909S Nolan, M. R., 1926M Ostrer, H., 341
Morissette, R., 132 Nakorchevsky, A. A., 2534S Nolin, S. L., 2833S Ostrovsky, O., 3440S
Morleo, M., 1528M Nalbandian, A., 2176M Noll, A. C., 1529T Oswald, G. L., 294
Morris, A. P., 771T Nallari, P., 2046M Noor, A., 3181T ouled amar bencheikh, B.,
Morris, J. A., 492T Nambot, S., 307 Norden-Krichmar, T. M., 1122T
Morrison, J., 1443S Nandineni, M. R., 1704S 1196M Outlaw, J., 2405S
Mortier, G. R., 292 Nantakomol, D., 3002M Norquist, B., 339 Ouyang, W., 1797S
Morton, C. C., Session 48 Narahara, M., 563M Norris, A. L., 3372M Oyama, F., 554M
Morton, Cynthia Casson, Narasimhan, V., 99 Norton, H., 1973S Ozaki, K., 2040M
Session 1 Nariai, N., 1395S Noto, K., 155 Ozbek, U., 696M
Mosca, S. J., 2984M Nassir, R., 1910M Novembre, J., 105 Ozeki, T., 709S
Mosca-Boidron, A., 3169T Nataraj, N., 3371S Nowak, J., 2590T Ozel, A., 944M
Mosley, J. D., 705S Nato, A. Q., 1342S Nuangchamnong, N., 3130S Ozen, M., 3433T
Mota-Vieira, L., 2635T Nauman, N., 2855S Nudelman, K. N. H., 3257S Ozkan, E. G., 2900M
Motazacker, M. M., 2063S Navarrete, J., 2268M Nuttle, X., Session 2 Ozkinay, F., 2251T
Mouden, C., 3156S Navarrete Meneses, M. P., Nuytemans, K., 1530S Ozturk Kaymak, A., 3474M
Moy, W., 1299T 3504M Nyholt, D. R., 1139M
Moyerbrailean, G. A., 622S Navarro-Gomez, D., 1396M
Mozaffari, S. V., 659M Ndungu, A., 792T P
Mozhui, K., 454T Neary, J., 1329T O
Mu, J. C., 1394T Neff, R. A., 37 Pachajoa, H., 2612S
Mudgway, R. J., 870T Negishi, Y., 2691M Oak, N. R., 3279M Padula, A., 3047M
Mueller, P., 2485T Neidich, J., 2446T Oberkanins, C., 2556M Pagani, L., 1975S
Mukherjee, K., 3138S Neininger, A., 619S O'Brien, T., 3373T Palacios-Reyes, M., 507M
Mukherjee, S., 1158T, Neklason, D. W., 300 Oda, H., 3007S Palamara, P. F., 1956M
1972M Nelen, M., 2518T O'Daniel, J. M., 2353T Palasuwan, A., 1398S
Mukhopadhyay, A., 213 Nelson, G., 1465M Odent, S., 2650T Palculict, T. B., 3258M
Mukhopadhyay, N., 1829T Nelson, J. M. T., 1138S Oetjens, M. T., 405 Palmer, C., 1809S
Mullegama, S. V., 3029M Nelson, L., 992M Offer, S. M., 406 Palmer, M. R., 994S
Müller, C., 2095S Nelson, M., 2474S Oh, S. S., 455M Palmer, N. D., 1089T
Mumm, S., 3104M Nelson, S. C., 220 O'Hara, A., 3329S Palomaki, G. E., Session 69
Munafo, D., 3370T Nelson, S. F., Session 8 Ohmomo, H., 1816M Palumbo, O., 2617T
Munger, S. C., 664S Neogi, A., 2725T Ohno, K., 1571T Pan, Q., 3374S
Munoz, L., 2165S Nevala, E., 2152M Ohno, M., 553S Pan, S., 316
Munroe, D. J., 1627M Neveling, K., 2842S Oishi, K., 3023M Pan, X., 501M
Muralidhar, S., 1803S Nevin, D. A., 2247T Okada, Y., 853S Pandey, R., 896M
Murphy, C., 1749S Nevin, Z., 3089M Okamoto, N., 2626T Pandya, A., 2579S
Murray, E. E., 2327S Ng, D., 734M Okawa, K., 620M Pandya, R., 39
Musharoff, S., 2013S Ng, M. C. Y., 993T Olde Loohuis, L. M., 1209T Panjaliya, R. K., 1919S
Musolf, A. M., 1781T Ng, S., 1492M Olfson, E., 1215T Panos, L., 3427T
Mussa, A., 291 Ngu, L. H., 2250M Oliveira, C. P., 3200T Panousis, N. I., 2075S
Musso, A., 2600S Ngun, T. C., 493M Oliveira, M. M., 2604M Papa, F., 2571M
Mutesa, L., 2393S Nguyen, K., 2110M Oliveira, S. A., 2419S Pappas, J. G., 2724M
Mutlu, Z., 3463T Nguyen, K.Ngoc., 2287T Oliver, T., 3221T Paquis, V., 268
Muto, K., 2342M Nguyen, N. A., 689S, 1348S Olivier, M., 264 Parikh, H., 582T
Muzny, D., 1685T Nguyen, NMP., 2861S Ollila, H. M., 1141S Park, C., 1021S
Muzzio, M., 1967S Nguyen-Dumont, T., 2529M Olsen, C., 1493T Park, D. S., 3298T
Myers, CT., 1134T Nho, K., 564T Olson, A., 2323S Park, H., 2519S
Nicholls, S. G., 2347T O'Mara, T. A., 3465M Park, J., 1136M
Nicholls, S. M., 1397T Onay, H., 2980S Park, J., Session 5
N Niculescu, A., 1641S Ongen, H., 136 Park, JH., 857M
Nieminen, T. T., 3328T Onojighofia, T. G., 1940M Park, M., 2969M
Naber, S. K., 2589M Niemsiri, V., 2119S Onoufriadis, A., 2933M Parker, G., 1605S
Nadyrshina, D. D., 3100S Niewold, T. B., 862S O'Rawe, J. A., 1531M Parkhurst, E., 2694M
Nafisinia, M., 2906M Nigro, V., 2491T Ordal, L., 2781M Parra, E., 1963S
Nagai, F., 2203S Nijman, I. J., 3464S Ordorica, S., 2460M Pasaniuc, B., 29
Nagasaki, M., 2028M Nikolaev, S. I., 139 Ordulu, Z., 3411M Pastore, N., 2177S
Patel, A., 3201T Pilarski, R., 3274T Qiu, H., 1642M Reppell, M., 1929S
Patel, C. J., 1858M Pilie, P. G., 3282M Quillen, E. E., 1990M Restrepo, N., 831T
Patel, S., 1532T Pillers, D., 2852S Quinto, C. D., 1911S Reyes-León, A., 3467S
Patel, T. A., 2653T Pinard, A., 2113S Quon, G., 248 Reyes Ramirez, D., 2623T
Patel, Y. M., 995M Pinelli, M., 212 Reymond, A., 1295M
Paternoster, L., 391 Pinto, I. P., 3203T Reynolds, R. J., 847S
Pathak, A., 3313T Pinto, R. M., 914M R Rhead, B., 460T
Pathak, S., 1712T Pipiras, E., 2714S Ribaux, P., 589S
Patino, L., 2696S Pique-Regi, R., 1477M Rabionet, R., 803M Ribeiro-Bicudo, L., 2628M
Patowary, A., 1128T Pirinen, M., 1873M Raby, B., 2557T Ribes-Zamora, A., 2324S
Patsopoulos, N. A., 1757T Pisani, L., 2647T Racacho, L., 2987M Richard, C., 2531S
Patwardhan, A., 68 Pitt, J. J., 3502T Radke, D., 1957S Richards, C. S., 323
Paul, B. M., 2970T Plaseska-Karanfilska, D., Raffield, L. M., 1086T Richardson, T. G., 2112M
Paul, J., 3191T 2815S Raghupathy, N., 249 Richholt, R. F., 1323T
Pavlidis, P., 1399M Platt, D. E., 1941S Ragoussis, I., 1498M Richterova, R., 912T
Pawlikowska, L., 3124S Plazzer, J., 1592T Rahikainen, AL., 740M Ricker, CN., 3428S
Payne, F., 804T Plewczynski, D., 578M Rahman, A., 1887S Riggs, E., 303
Pedergnana, V., 1798M Plichta, D., 1083T Rahman, M. L., 1400T Riley, B. P., 902M
Pedroza, L.SRA, 3482S Plon, S. E., 302 Rahman, N., 340 Rini, C., Session 11
Pelkonen, M., 3466T Plötz, T. A., 119 Raï, G., 1401S Rios, J. J., 3111T
pellegrino, r., 948T Poeta, L., 483M Raj, P., 630T Risch, N., 190
Peloso, G. M., 2132M Polak, P., Session 75 Raj, S. M., 1046M Risheg, H., 3218T
Pemberton, P. J., 1505T Polla, D. L., 2726S Raj, T., 195 Ritter, D. I., 3275S
Pemov, A., 3395S Pollard, M. O., 1600M Rajagopalan, R., 2913T Rivas, M. A., 1731S
Peña-Padilla, C., 2732S Poornima, S., 744T Raju, H. B., 1533S Rivera, J., 2758T
Pendergrass, S., 710M Popadin, K., 1930M Ramachandran, D., 2089S Roberson, E. D. O., 885T
Peng, Q., 1897S, 1986M Popejoy, A. B., 1931S Ramalingam, A., 2783S Roberts, A., 123
Penn, O., 194 Popic, V., 140 Ramalingam, S., 2333T Robinson, P. N., 1643T
Penney, K. L., 34 Popp, B., 3054T Ramanathan, S., 2715M Robison, R., 1404S
Penton, A. L., 3160T Poquet, H., 1129S Ramdas, S., 1238M Rocha, A.AN., 2761T
Peralta, J. M., 1789M Porras, A., 2817S Ramírez-Patiño, R., 3300M Rockwood, S., 1667T
Pereira, F.dosS., 3087T Posey, J. E., 2971S Ramos, E., 1595T Rodriguez, A., 1535T,
Pereira, V. G., 2228M Potluri, V., 3183T Ramos, G. B., 864T 2055S
Pérez, C. A., 3090T Povysil, G., 1994M Ramos, P. S., 1976M Rodriguez, L. M., 1495M
Perez Millan, M.Ines., 3018T Powell, B. C., 372 Ramos-Silva, A., 699S Rodriguez-Murillo, L., 125
Pérez Ramírez, M., 3339M Powis, Z., 1172M Rampersaud, E., 574S Rodriguez-Revenga, L.,
Pérez Sánchez, M., 2452T Prada, C., 2060M Ramsey, B., Session 8 2572T
Pérez-Vera, P., 3202T Prasad, M., 2530T Ramzan, K., 2883T Rogan, P. K., 3166T
Pericak-Vance, M., 1343M Prasad, R., 3035M Ranade, S., 1583T Rogers, A., 1924M
Perovanovic, J., 378 Pratt, M., 43 Raney, B. J., 1494S Rohlfs, R., 1977S
Perrault, I., 2934T Pratto, F., 671M Rangasamy, S., 2622M Rohlin, A. M., 3276M
Perreault-Micale, C., 2461T Preuss, C., 2058M Ranjouri, M. R., 2787S Rojas Martínez, J. A.,
Perry, C. G., 276 Priamvada, G., 724M Rapp, C., 3262T 2607M
Pers, T. H., 346 Price, A., Session 73 Rashkin, S., 1824S Rojas-Pena, ML., 2033S
Persad, P. J., 383 Prieto, J., 2738S Raskin, S., 2670M Roman, T. S., 352
Pescatore, A., 3027T Prins, B. P., 2145S Rath, A. M., 1719S Romero, V., 1921S
Peter, B. M., 2014M Priya, R., 1229M Rausell, A., 97 Romero-Diaz, A., 2601M
Peterlongo, P., 3259T Probst, F. J., 634S Raveendran, M., 1943S Romitti, PA., 832S
Petersen, B.-S., 793S Proitsi, P., 1166M Rawal, R., 459M Romm, J., 1825M
Peterson, C. B., 1782S Prokudin, I., 2697M Rawal, R. M., 1534M Ronen, R., 1978M
Peterson, J. F., 723S Proukakis, C., 1144S Rayner, N. W., 1402M Roney, J. C., 2238M
Petkova, D., 1819M Prows, C. A., 716M Rebelo, A., 3069T Rongioletti, M., 2797S
Petridis, C., 3260S Ptacek, L. J., Session 72 Reddy, K., 2428T Roosing, S., 3031S
Petropoulou, E., 2144M Puebla-Pérez, A. M., 3299S Reddy, T. E., 514S Rosan, D.BA., 1249S
Petukhova, L., 900T Pugliesi, L., 2302M Rees, M. I., 3083M Roscioli, T., 623M
Pezzolesi, M. G., 768T Pulyakhina, I., 3281S Regalado, E. S., 2167S Rose, A. M., Session 5
Pfeiffer, L., 457M Punetha, J., 1790T Rehker, J., 1210S Rosenfeld, J. A., 725S
Pfeufer, A., 583S Pupavac, M., 2252M Rehm, H., Session 70 Rosenthal, E., 2441S
Pham, X., 1312S Purmann, C., 3184T Reich, A., 3101M Rosenthal, E. A., 812M
Philibert, R., 458T Pyeritz, R., Session 48 Reid, S. J., 3093T Rosenthal, S. L., 1025M
Philippe, C., 3082S Reimand, J., 639T Ross, K. A., 1111S
Phokaew, C., 1189S Reiner, J., 2495S Rosse, S., 298
Phowthongkum, P., 2613M Q Reinstein, E., 2707T Rossi, M., 3340T
Picco, G., 2678S Reiter, L., 567T Roter, A., 3172T
Pickett, B. D., 1612M Qaadri, K., 3261M Renaud, D., 2260M Rousseau, J., 2476T
Pierce, B., 646S Qi, Q., 934S Renault, A., 3263S Rowsey, R., 6
Pierce, S. B., 1313M Qi, Z., 3192T Rengmark, A. H., 1269T Royal, C. D., 2320S
Pierson, E., 1105S Qiao, D., 745S Renwick, A., 1403T Roy-Gagnon, M.-H., 1737S
Pietrzyk, A., 2673M Qin, H., 1750M Repetto, G. M., 2644T Roytman, M., 1472T
Pietrzykowski, A., 479M Qing, J., 2499M Repnikova, E. A., 2692T Royyuru, A., Session 3
Rozet, JM., 3070S Sapkota, B. R., 2100M Seo, D., 735S 1560S
Rualo, J., 1644S Sapp, J., 2364M Seo, J., 2681S Silver, A., 2803S

Ruark, E., 98 Saradalekshmi, KR., Seppälä, E. H., 2061S Silverman, I., 251
Rubel, M. A., 2387S 1157M Sertie, A., 3076S Sim, X., 1010M
Rubicz, R., 3468M Sarca, G., 2574M Sestito, S., 2743T Simaite, D., 232
Rudd, K., 304 Sardell, R. J., 1084S Settler, C., 2793S Simmons, A. D., 2325S
Rudy, G., 1663M Sarnowski, C., 486T Severin, E., 2575T Simon, L., 641M
Rufus, A., 2264M Sarrafi, Z., 2811S Seyrantepe, V., 3073S Simons, C., 2990M
Ruiz, F., 1800S Sasarman, F., 144 Shaaban, S., 2708S Simonti, C., 1920M
Ruiz-Narvaez, E. A., 3301T Satake, W., 1232M Shabalin, A. A., 1409T Simpson, C. L., 1225S
Rump, A., 2445M Sathirapongsasuti, F., Sha'bani, S., 3480M Sin, YY., 2288M
Rupp, V. M., 3051T 698M Shabsovich, D., 3341S Singer, A., 2636S
Rusmini, M., 1572S Sathyan, S., 833M Shafee, R., 1117S Singleton, M. V., 1554S
Russell, B., 2669S Satizabal, C. L., 1195S Shago, M., 3342M Siniard, A. L., 2133S
Russo, A., 461M Sato, Y., 1408M Shah, A. Z., 3032M Sinicrope, P. S., 2599T
Russo, G., 3375M Satomi, R., 3180T Shah, K. P., 1197T Sinnott, J. A., 1098T
Rustagi, N., 1684M Satten, G. A., 1724T Shahabi, P., 715S Sisson, D., 2641T
Ruth, K. S., 785M Sauer, S., 2108M Shahin, H., 2888M Siu, M. T., 418T
Ruzic, L., 2381T Saunders, C., 2959S Shahmirzadi, L., 2580M Sklar, P., 345
Rychkova, A., 1405M Saunders, E., 3264M Shaikh, T. H., 3028S Skotte, L., 1812S
Ryu, E., 1326T Savage, S., 219 Shaked, A., 1715T Slavney, A., 1989S
Ryu, H. M., 497M Savard, J., 2377T Shameer, K., 2388S Sleiman, P. M. A., 998M
Sawai, H., 996T Shan, J., 3135S Sloan, C. A., 1653S
Schaefer, C., 350 Shankaracharya, S., Slowey, P. D., 1680S
S Schaid, D., 1845S 3302S Small, K., 354
Scherer, S. W., 209 Shao, X., 462T Smith, A., 1053T
Saadi, I., 1466T Schierup, M. H., 9 Shapero, M., 1706T Smith, A. C. M., 2603S
Sabatello, M., 2349T Schiffels, S., 103 Sharaf Eldin, N., 1755S Smith, CJ., 949S
Sabourin, J. A., 1775T Schleede, J. B., 2490M Shariati, G., 2463M Smith, C. L., 2878S
Sadedin, S., 1449S Schleit, J., 1608S Sharma, A., 882T Smith, D. J., 463M
Sadler, B., 1964M Schlesinger, F., 1607T Sharma, S., 3102T Smith, E., 1596S, 2160M
Safavi, S., 3439T Schmidt, D. F., 3316T sharma, s., 3190T Smith, J., 1987S, 2972M
Saffari, A., 1279S Schmidt, E., 1645M Sharmin, N., 2874T Smith, M., 1246S
Sahoo, T., 227 Schmidt, J., 3330M Sharp, K. J., 1883T Smith, R., 1309S
Sahota, A., 2183S Schmidt, M. H. M., 3061S Shaw, C., 1777M Smith, TM., 2315S
Saisanit, S., 1536S Schmitt, C. A., 923M Shchetynsky, K., 1074T Smith-Packard, B., 2337T
Saitsu, H., 2735S Schmitz-Abe, K., 1153S Sheehan, V., 357 Snow, A. K., 3387M
Sajan, S. A., 2922T Schneider, V. A., 1624M Shen, L., 959M Snyder, M., 282
Sajuthi, S. P., 1734S Schoenberg-Fejzo, M., Shendure, J. A., Session 76 Snyder, M. W., 2843S
Sakamoto, H., 1200T 2862S Shenoy, S. A., 653M Soave, D., 1778T
Salas-Labadía, C., 3222T Schormair, B., 1810M Sherry, S., 1662S Sobota, R. S., 1811T
Salazar-Dávalos, I. M., Schrader, K. A., 3310T Shetty, S., 2300M Sobreira, N., 127
2679M Schrauwen, I., 3094S Shevchenko, Y., 2511M Sodhi, A., 873T
Salehi Chaleshtori, A. R., Schreiber, E., 1573M Shi, M., 1783M Soemedi, R., 545M
1406T Schreml, J., 288 Shibata, A., 3103S Sol-Church, K., 2923S
Salem, R. M., 1109M Schrijver, I., 2547M Shibata, K., 1801M Soler Artigas, M., 999T
Salerno, W. J., 1590S Schüle, R., 3084T Shigemizu, D., 1574T Solomon, B., 228
Saletore, Y., 1474M Schulte, E. C., 1270S Shih, P., 1231S Solomon, I., 3303M
Salgado, D., 1407S Schuurs-Hoeijmakers, J. H. Shih, Y., 3377S Solyom, S., 135
Sallah, N., 905M M., 1281T Shim, s., 2591S Son, H. Y., 1000S
Salo, P., 2701T Schwartz, S., 62 Shimazaki, H., 1201S Sone, J., 1257T
Samango-Sprouse, C., 362 Schwarze, U., 3112S Shimbo, H., 2733M Song, I., 960T, 3204T
Samocha, K., 198 Schweitz, M., 2822S Shimizu, A., 2596T Soranzo, N., 1
Sanchez, A. I., 2780S Scott, E. M., 2029S Shin, J., 1668S Sorosina, M., 1115M
Sanchez-Contreras, M., Scott, L. J., 1230T Shinde, D., 2438S Sorte, H. S., 3004S
1145M Scott, R. A., 53 Shirts, B. H., 301 Sotomaior, V. S., 1953S
Sanders, A. R., 348 Scott, S. A., 737S Shively, K. M., 3055S Soto-Quintana, O., 3304T
Sanderson, S. C., 2311S Scott, W. K., 2309S Shore, S., 1674S Souaiaia, T., 1410S
Sandoval-Pinto, E., 2047S Scott, W. R., 997S Shringarpure, S., 8 Soubrier, F., 120
Sandoval Talamantes, AK., Sebat, J., 344 Shu, L., 1067M Sousa, I., 1001M
2720S Secolin, R., 765T Shukla, A., 2631M Souza, L. T., 834T
Sanga, S., 2573S Sedaghat, A., 2462S Shuldiner, A., 706M Souza, W., 1537M
San Martin-Brieke, W., Seddon, J., 779M Shuman, C., 2542T Spear, M. L., 931S
2762S Segre, A. V., 3376T Shutske, K. B., 2576S Speed, D., 1118M
Sano, K., 2753S Seiser, E. L., 667S Sidore, C., 780T Speliotes, E. K., 356
Santani, A., 371 Selvi Günel, N., 3421T Sieberts, S. K., 1198S Sperber, S. M., 1211M
Santoni, F., 525T Semrau, K. C., 3214T Sikora-Wohlfeld, W., 965M Spielmann, M., 590M
Santos, L. C., 3469T Sen, M., 2421M Silva, B., 1927S Spier, I., 299
Santos, P. C. J. L., 726M Sengupta, S., 203 Silva, V. C., 415M Spinella, JF., 3378M
Santos-Cortez, R. L. P., 52 Seo, A., 2948M Silveira-Moriyama, L., Sprouse, C., 416T
Srinivasan, M., 1691T Swaminathan, G. J., 171 Thiffault, I., 2501S Uehara, T., 3267M
Srivastava, A. K., 116 Swan, B., 1239T Thijssen, P. E., 2902S Ueta, M., 400
Srivastava, S., 1317T Swanson, D., 1864M Thomas, G. A., 1681M Ukraintseva, S., 891T
Srour, M., 3048T Sweet, K., 2413S Thomas, W., 1250M Ullah, E., 2889T
Staats, K. A., 1258S Swenerton, R. K., 2503T Thompson, B. A., 3505T Ulm, J. W., 2193S
Staley, L. A., 1538T Swisshelm, K., 3205T Thompson, D., 2504S Umbarger, M., 2823S
Stamoulis, G., 516T Syed, S., 2162M Thompson, J., 2466M Umrigar, A., 2205S
Standish, K. A., 1575S Sykes, M., 1675M Thomson, N., 1578S Unal Gulsuner, H., 70
Stanfill, A. G., 874S Symer, D. E., Session 76 Thong, M., 2585S Upendram, P., 3471M
Stanier, P., 3042T Symoens, S., 234 Tian, C., 1184M Urbanek, M., Session 7
Stanley, C., 2464T Szafranski, P., 2627S Tian, L., 1561M Uricchio, L. H., 201
Staples, J., 1411M Szelinger, S., 2447S Tian, S. L., 1540M Urraca, N., 2652M
Stark, Z., 2789S Szpiech, Z. A., 1979S Tibben, A., Session 48 Usher, C. L., 586S
Staropoli, J. F., 2213S Tignor, N. L., 654T Uyenoyama, M., 1942M
Stavropoulos, D. J., 2465S Tiira, K., 1185T Uzilov, A. V., 1676T
Stein, C. M., 1130M T Tilch, E., 2030M
Stein, M., 464T Tillmans, L., 668M
Stenzel, S. L., 1848S Tabor, H., 2365T Tim, R. C., 2845S V
Stergachis, A. B., 253 Tachmazidou, I., 781S Timpson, NJ., 764M
Stessman, H. A. F., 210 Tackney, J., 2021S Tincher, S., 480T Vaez, A., 1541T
Stevens, A. J., 465M Taft, R. J., 2991T Tindale, L. C., 805S Vahidnezhad, H., 3121S
Stewart, D. R., 3265T Tahir, R., 3153S Tirado, C. A., 3343T Vainzof, M., 2871T
Stewart, F. J., 1702M Tajuddin, S. M., 2087S Tirado, I., 1361M Valdez Haro, A., 2049S
Stitziel, N., 186 Takahashi, J. S., Session 72 Tischkowitz, M., 3503S Valind, A., 614M
Stoffels, M., 82 Takahashi, M., 727S Tobar Tosse, F., 1646T Valkanas, E., 1417M
Stone, A. C., 843T Takano, K., 3182T Togawa, T., 2953S Vallabh, S., Session 6
Strande, N. T., 318 Talasaz, A., 3422S Toland, A., 3280T Valle, D., Session 24
Stranecky, V., 2936M Talebizadeh, Z., 1286M Toloue, M., 2526M Vanakker, O., 1434S
Stranger, B. E., Session 7 Talkowski, M., 2844S Tomsic, J., 3266S van Bokhoven, H., 111
Stray-Pedersen, A., 3005M Tammimies, K., 17 Torgerson, D. G., 861T Vance, D. D., 561T
Strom, C. M., 67 Tan, A., 1576M Torkamani, A., 112 Vance, J. M., 2151S
Stromberg, M., 860M Tan, K., 1444M Toro, C., 3049S van de Bunt, M., 59
Strong, E., 466T Tan, P. L., 571S Torres, F. R., 2917S Van den Oord, E. J. C. G.,
Stueber, S., 2734T Tan, Q., 420T Torres, J., 1018S 244
Sturcke, A., 1412T Tanes, C. E., 1539S Torun, D., 2602T Vander Horn, P. B., 1625T
Stuurman, K. E., 2828S Tang, X., 2078M Tovilla-Zárate, C. A., 1155T van der Hout, A. H., 2919T
Su, A. I., 92 Tang, Z. Z., 1725S Towers, A. J., 375 van der Laan, S. W., 2161S
Su, M., 1948M Tarn, C., 2417S Towne, M. C., 2973T Van Driest, S. L., 2139S
Su, M. W., 1557S Taschner, P. E., 1577T Tragante do O., V., 2067S Van Duijn, C. M., 185
Suarez-Kurtz, G., 711S Taub, M. A., 1597M Trakadis, Y., 2257T van Gassen, K. L. I., 2434T
Suárez Villanueva, A. S., Tavakoli Koudehi, A., 3470S Traurig, M., 1019M van Haaften, G., 2184M
1937S Tavares, P., 2535M Tregouet, DA., 2041S van Leeuwen, E. M., 1839S
Subhash, A. K., 690M Tavares, V. L. R., 3106S Trinh, J., 3085S van Min, M. J., 328
Subramaniam, M., 1364T Tavtigian, S. V., Session 71 Trynka, G., 1075S van Minkelen, R., 2436M
Sudhakar, D. V. S., 229 Tayeb, M., 1598T Tsai, A., 2632T Van Nieuwerburgh, F.,
Suh, J., 3011M Taylor, J. M., 2048M Tsai, H., 1051S 1418T
Sul, J., 642T Teerlink, C. C., 1002T Tsai, P.-C., 468T Van Opstal, D., 2846S
Sulakhe, D., 1413S Tekin, D., 2909M Tsang, E. K., 657T van Setten, J., 915T
Sulem, P., 95 Tekin, I., 2674T Tsepilov, Y. A., 1865T van Tienen, F., 2211S
Sullivan, T., 1654M Tekola-Ayele, F., 273 Tšernikova, N., 487M van Zuydam, N. R., 2101S
Sulovari, A., 1460T Temel, S., 2764T Tsoi, L. C., 1416S Varga, T. V., 2105S
Sumner, K. L., 2952T Temtamy, S. A., 2685M Tsosie, K. S., 807T Vasconcellos, J. P. C.,
Sun, C., 1123S Tennant, M. R., 2326S Tsurusaki, Y., 2926S 1023T
Sun, D., 467M Tepperberg, J. H., 3219T Tucker, M., 2856S Vasli, N., 794M
Sun, G., 3145S Terada, A., 1415T Tuff, J. F., 865S Vasquez, L. J., 570T
Sun, N., 1078S Terry, S., Session 74 Tuke, M. A., 758M Vassy, J. L., 2433M
Sun, Y., 148, 3136S Tesarova, M., 2215T Tukiainen, T., 242 Vasudeva, N., 2088M
Sun, YP., 2810S Tesson, C., 1314T Turchin, M. C., 800M Vattathil, S., 591T
Sun, Z., 1414M Tetreault, M., 1202M Turcot, V., 274 Vattikuti, S., 1461S
Sung, H., 2146M Teumer, A., 1003S Türkgenç, B., 3381M Vaysse, A., 3318M
Sung, MK., 897T Tewhey, R., 651T Turner, T., 613S Vázquez-Villamar, M.,
Sunga, A., 3311S Tey, S., 2924M Turpault, S., 2284M 1013M
Sur, D., 729S Thaker, V., 1100M Tuysuz, B., 2686T Vecchio-Pagán, B., 2963M
Suskin, B., 2848S Thakuria, J. V., 1496T Tyburczy, M. E., 236 Veeramah, K.R., Session 9
Susswein, L., 313 Thangavelu, M., 3380S Veerapen, M. K., 2853S
Sutton, V., 287 Theis, J. L., 2149S Veith, R., 3086M
Suzuki, A., 886S, 3379T Theusch, E., 697S U
Velagaleti, G., 3196T
Suzumori, N., 2392S Thevenon, J., 2486S Velinov, M., 2204M
Sveinbjornsson, G., 178 Thibodeau, S. N., 33 Uddin, M., 15
Veliz-Otani, D., 1357S
Svidnicki, M. C. C. M., 2520M Thiel, C. T., 2925T Uehara, D. T., 2675S
Vengoechea Barrios, J., Wang, N., 1763T, 2975M Willer, C., 2114M Y
2550M Wang, P., 1420M, 1647S Willer, J. R., 3149S

Vera, M., 2261T Wang, Q., 3306M Williams, A. L., 7
Yabuta, S., 2561S
Verdugo, R. A., 1895S Wang, R., 679S Williams, J. L., 217
Yadav, A., 3472T
Verhoeven, V. J. M., 1004M Wang, R. T., 2528S Williams, M. S., 2559M
Yaghootkar, H., 1095T
Verloes, A., 128 Wang, S., 519T, 1350T Williamson, V., 1294S
Yamagata, K., 1582M
Verma, A., 903T Wang, T., 2310S Wills, A. G., 1049M
Yamagata, Z., 2340M
Verma, G., 2747S Wang, W., 1692S Willsey, A. J., 1199M
Yamaguchi, M., 1544T
Verma, S., 1878S Wang, X., 1186S, 1591M Wilson, B. J., 2273T
Yamaguchi-Kabata, Y., 627T
Vernot, B., 2015S Wang, X., 1419S, 1733T, Wilson, J. F., 1107T
Yamamoto, G. L., 129
Vial, C., 3305S 2073S, 3479S Wilson, L., 2062M
Yamazaki, K., 955S
Vieira, N. M., Session 5 Wang, Y., 107, 1543M, Wilson, N., 3152S
Yamazawa, K., 423M
Vigeland, M., 1469T 2642S Wilson Sayres, M. A.,
Yan, D., 2910T
Vignoli, M., 3006T Wang, Y. E., 1709T Session 9
Yan, Q., 23
Vihinen, M., 1452S Wang, Y. J., 2072M Winkelmann, J., Session 72
Yan, X., 932M
Vikkula, M., 2068M Wang, Z., 157, 382, 1655T Winqvist, R., 3397T
Yancy, L. A., 1649T
Vilboux, T., 2935S Wangler, M. F., 48 Wise, C., 353
Yang, H., 572M
Vilhjalmsson, B. J., 1767S Ward, L. D., Session 75 Wisnieski, F., 482T
Yang, H., 1467S
villegas, r., 1035T Waring, D., 2318S Wiszniewski, W., 83
Yang, L., 3345M
Vince, N., 815M Warren, J., 1648M Witherspoon, D. J., 1507M
Yang, R., 579T
Vincent, A., 2927M Wasserstein, M. P., 2187S Witte, J. S., 31
Yang, R. X., 3269S
Vincent, J. B., 1336S Watanabe, A., 2448M Woerner, A. E., 637S
Yang, S., 1751T
Vinkler, C., 2633S Watanabe, Y., 2258M Wojcik, G. L., 1968M
Yang, W., 2521T
Vinson, A., 1047T Waterworth, D., 700M Wolf, L., 2620T
Yang, Y., 472T, 2478M
Viñuela, A., 281 Watkins, L., 1614S Wolf, Z., 77
Yano, S., 2277T
Vitale, E., 1293T Watkins, N. A., 3212T Wolpert, C. M., 2383T
Yao, B., 407M
Vitazka, P., 2442M Watson, C. T., 240 Won, H.-H., 2102M
Yao, C., 1081S
Vlachopoulou, E., 2050M Watson, L. C., 3408M Wong, E., 2016M
Yap, K., 2443T
Vladimirova, A., 1650S Weaver, D., 1579M Wong, E. M., 422T
Yarram-Smith, L. J., 2429S
Voss-Hoynes, H. A., 809M Webber, D., 2153S Wong, K. L., 3038M
Yasui, D. H., 409M
Vsevolozhskaya, O., 1726M Weber, Z. M., 3331T Wong, L., 367
Yasunami, M., 3001S
Vu, K., 2163S Weeks, D. E., 1497S Wong, T. H., 1259M
Yau, C., 1425S
Wei, C., 1727T Wong, W. S. W., 10
Yau, M. S., 1094M
Wei, G., 3409T Wong-Ley, L., 2698T
W Wei, P., 1862T Woo, K., 2206M
Ye, C. J., 640S
Ye, J., 2401S
Wei, Q., 1233T Wood, A. R., 259
Ye, K., 279
Wadelius, C., 484T Wei, Z., 1271M Wray, C., 2316S
Yeager, M., 3167T
Wadelius, M., 712M Weihbrecht, K., 921T Writzl, K., 2736M
Yeh, E., 3091S
Wadsworth, M. E., 1542S Weinberg, C. R., 1830S Wu, C. C., 1866S
Yenamandra, A., 3344S
Wagner, E., 539M Weisfeld-Adams, J. D., Wu, F. Y., 848M
Yerges-Armstrong, L.,
Wagnon, J. L., 3052S 2709M Wu, L., 1877T
1879M
Wahl, S., 469M Weisheit, C., 3058S Wu, M., 3383S
Yeung, K. R., 473M
Wahlberg, P., 245 Weiss, L. A., 395 Wu, N., 3113M
Yigit, E., 1699M
Wain, L. V., 1101T Weiss, M., 2439M Wu, W., 1059T
Yilmaz, R., 3071M
Walia, J., 3487T Weitzman, E., 2367T Wu, W., 1055M
Yilmaz, S., 2755T
Walker, S., 615T Welch, R. P., 1421T Wu, X., 1697T
Yim, S., 616S
Walkiewicz, M. A., 2539T Weltmer, E. C., 3429M Wu, Y., 649S, 3389S
Yin, J., 1315S
Wallace, S., 2366M Wen, X., 644M Wu, Z., 3384M
Yokoi, T., 2667M
Wallis, D., 1318S Weng, C., 2477S Wünnemann, F., 2754M
Yoo, H., 2189S
Wallmeier, J., 3131S Wennerström, A., 876T Wyckoff, G. J., 1154M
Yoo, Y., 1791S
Walsh, T., 3382T Wert, K., 930T Wyrobek, A. J., 1324S
Yoshihashi, H., 2643M
Walter, K., 2031S Wertelecki, W., 2858S
Yoshiuchi, I., 1980M
Walter, M., 2930M Wesolowska-Andersen, A.,
Walters, R. G., 1707S 559S X You, J., 131
Young, E. L., 3507M
Walters-Sen, L. C., 3173T Wheeler, H. E., 404
Young, J., 1280M
Walz, K., 233 Wheeler, M. T., 2136M Xia, F., 2482T
Yourshaw, M., 3040S
Wan, Y. B. A., 2134M Whelan, C. D., 1168S Xia, G., 2194M
Yousefi, P., 474T
Wang, C., 1613T, 1823T White, J., 1580T Xiao, C., 1581S
Youssefian, L., 2737T
Wang, D. W., 2179S White, J. J., 2716T Xie, H., 2497T
Yrigollen, C., 544S
Wang, E., 2792S White, P., 1422S Xing, J., 746M
Yu, B., 101
Wang, F., 2947S White, S. J., 513T Xiong, F., 2897M
Yu, F., 1922M
Wang, G. T., 1833S Whitehead, P., 1241M Xiong, M., 1423M
Yu, G., 3307T
Wang, H., 1033S, 1988M, Whitworth, J., 3268T Xu, C. J., 470T
Yu, J., 2370M
2111S, 2216M Wilbe, M., 2663S Xu, H., 1888M
Yu, L., 80
Wang, J., 61, 1792M, Wildenauer, D. B., 1140T Xu, JW., 1322M
Yu, N., 3392S
2135S, 2253T Wilfert, A. B., 1764S Xu, M., 1424T
Yu, S., 3057T
Wang, L., 643S, 1048S, Wilkie, A. O. M., 1243S Xu, S., 1912M, 2188M
Yu, X., 475M
2399S Willems, S. M., 810T Xu, X., 2998S
Yu, Z., 1855M
Wang, L. Y., 1462M Willems, T., 935M Xu, Z., 471M, 1741M
Yuan, B., 2962S
Wang, M., 25, 1475T Willems van Dijk, K., 1470S Xue, Y., 1992M
Yuan, T., 1435M Zariwala, M. A., 2898T Zhang, J., 1426M, 2437T, Zhou, J., 1805T
Yuan, Y., 557M Zarrei, M., 206 2558S Zhou, L., 1779S
Yuceturk, B., 2745M Zaveri, H. P., 3140S Zhang, J. G., 1061M Zhou, W., 1445T, 2094M,
Yuen, R. K. C., 631S Zaykin, D., 1871T Zhang, L., 1766T, 2081S 3332S
Zazo Seco, C., 235 Zhang, M., 2788S Zhou, X., 161, 1658T
Zech, M., 1251T Zhang, S., 2537S Zhu, X., 331
Z Zeggini, E., Session 73, Zhang, T., 1545S Zhuang, W., 3308S
782M Zhang, Y., 477M, 854M, Ziegler, A., 1244M
Zaghlool, A., 1212T Zemanova, Z., 3400T 3227S, 3483M Ziegler, S. G., 142
Zaitlen, N., 522T Zembrzuski, V. M., 736M Zhang, Z., Session 76, Zielinski, D., 899M
Zaki, M. S., 2223T Zemojtel, T., 2582S 1450M Zill, O., 3385T
Zaleski, D. H., 3161T Zeng, C., 476T Zhao, J. H., 1765M Zimmermann, B. G., 2505M
Zalloua, P., 1913S Zeng, R., 1664T Zhao, L., 1427T Zink, A. M., 2901T
Zamani Esteki, M., 327 Zeng, Z., 1827S Zhao, N., 1817T Ziv, E., 1867M
Zambrano, R. M., 2588S Zhan, H., 1804M Zhao, Q., 2093S, 2928T Zook, J. M., 1656S
Zampetaki, A., Session 69 Zhan, Y., 2507S Zhao, Y., 1187M Zou, W., 1785S
Zandona, M. R., 835S Zhang, C., 381 Zheng, J., 1742T Zou, Y., 2271T
Zankl, A., 1659S Zhang, D., 1820T Zheng, Y., 337, 1428S Zubair, N., 951T
Zapata-Aldana, E., 2717S Zhang, G., 2859S Zhong, N., 2850S Zuhlke, K. A., 3309M
Zappala, Z., 665M Zhang, H., 421M, 1925S, Zhou, G., 3151S Zwiefelhofer, T., 2847S
Zaragoza, M., 2137S 2103S Zhou, H., 741S
Come see all that ACMG, NBSTRN and NCC have to offer at
booths 1724 and 1725.
• FIND out what’s changed in genetic services CPT coding
• PICK UP a copy of Genetics in Medicine
• APPLY for ACMG membership during the ASHG meeting
and SAVE $125 on ACMG membership and annual meeting
registration.
• ENTER drawings for a Kindle Fire and a 2015 ACMG Annual
Meeting Registration!
• LEARN about the ongoing fundraising activities of the ACMG
Foundation for Genetic and Genomic Medicine
• DISCOVER ACMG’s online resources including our FREE
Genomics in Clinical Practice Webinar series and the session
recordings from the 2013 and 2014 ACMG Annual Clinical
Genteics Meetings.
• VIEW a preview and learn more about the 2013 ACMG Genetics
and Genomics Review Course Archived Webinar available for
purchase (approved for CME and CEUs).
The Newborn Screening Translational Research Network

(NBSTRN) and the National Coordinating Center for the Regional
Genetic Service Collaboratives (NCC) will be showcasing various
resources available for researchers, healthcare providers, public
health professionals and consumers at booth 1725.
• Detailed program, registration, and hotel information

mation available October 2014
at www.acmgmeeting.net
• Abstract submission opens in October 2014
• Abstract submission deadline: Friday, December 5, 2014
2015 Genetics and Genomics Review

iew
w Course
June 18–21, 2015
Center for Advanced Medical Learning and Simulation (CAMLS) • Tampa, FL
Publishing High Quality Human
Genetics Research since 1949
Pick up your limited edition lanyard

at ASHG Central, Booth 1331
Look for the 65th Anniversary edition of
AJHG in your meeting bag
Cell Symposia
2014 -2015
Forthcoming Symposia
Organized by the editors of Cell Press's leading journals, Cell Symposia bring
together exceptional speakers and scientists to discuss topics at the forefront of
scientific research.
Human Genomics
November 8-10, 2015, Singapore
Hallmarks of Cancer: Asia Translational Neuroscience: Bridging

November 9–11, 2014 the Gap Between Basic Research
Beijing, China Discoveries and Clinical Applications
November 13–14, 2014
Arlington, VA, USA
Cell-VIB: The Multifaceted Roles Stem Cell Energetics

of Type 2 Immunity December 9–11, 2014
December 10–12, 2014 Berkeley, CA, USA
Bruges, Belgium
Exercise Metabolism Cancer and Inflammation

June 7–9, 2015 June 14–17, 2015
Amsterdam, The Netherlands Sitges, Spain
Mitochondria Stem Cells Epigenetics

July 19–21, 2015 September 20–22, 2015
Chicago, IL, USA Sitges, Spain
Human Microbiome Cell Death and Immunity

September 27–29, 2015 October 11–13, 2015
Montreal, Canada Berkeley, CA, USA
Engineering the Brain (SfN Satellite) Human Genomics

14–15 October, 2015 November 8–10, 2015
Chicago, IL, USA Singapore
cell.com/symposia
Scottish Exhibition and Conference Centre
ESHG
Glasgow 2015
Scotland, United Kingdom, June 6-9
Deadline for submission of abstracts:

February 13, 2015
Programme, registration and abstract submission online at:
www.eshg.org/eshg2015
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Invited Proposals and Workshops Accepted Until
December 5, 2014
Seeking invited sessions proposals in:

] Emerging Genomic and Bioinformatic Methods and Tools
] Functional or Mechanistic Studies of Genetic Disease
] Comparative Genomics (Population or Species)
] Advances in Mendelian or Complex Trait Analysis
] WES or WGS in Clinical or Research Settings
] Evolutionary Genetics and Genomics
] Engagement of Stakeholders in Clinical Genetics/Genomics
] Social Issues, Education, Policy
] and more! June 11, 2015
Abstract Submission
Deadline
TRAINEES
At least one slot has been set aside for an invited session that is
proposed, moderated and presented by trainees! When submitting
a proposal, please mark the appropriate checkbox to indicate your
status as a trainee.
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ASSHG Program, 2014

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ashg.

Discover • Network • Collaborate

Each PrimePCR™ Assay is expertly designed and

Stop by Booth 1937 to learn more or

Schedules ........................................................................................................... 15–34

Charles J. Epstein Trainee Awards for Excellence in

FASEB MARC Travel Awardees .............................................................................. 49

INVITED, PLENARY, AWARD AND PLATFORM SESSIONS SCHEDULE

Poster Sessions ............................................................................................. 103–200

Continuing Education (CEU/CME/PACE CEU Credits) ..................................... 233

2014 Board of Directors

Cynthia C. Morton, President

Neil J. Risch, President-Elect Directors:

WELCOME FROM THE PRESIDENT

AMERICAN SOCIETY oF HUMAN GENETICS 64TH

Andrew S. McCallion, Chair

Joshua Akey Ruth Loos

Anthony Antonellis Daniel MacArthur

Dimitri Avramopoulos Karen Mohlke

Joann Bodurtha Doug Mortlock

Gregory M. Enns Kelly E. Ormond

Clair A. Francomano Tayfun Ozcelik

Christian Gilissen Sharon E. Plon

Chris Gunter Barbara R. Pober

Madhuri Hegde Michael A. Province

Sekar Kathiresan Michael R. Speicher

Suzanne M. Leal Rosanna Weksberg

Guillaume Lettre Michael E. Zwick

WELCOME FROM THE PROGRAM CHAIR

Feedback: To determine whether the programmatic changes we implemented were

Acknowledgments: Developing a program for the ASHG Annual Meeting is

ANNUAL MEETING SUPPORT

The American Society of Human Genetics gratefully acknowledges the

For the Ice Cream Social during Poster Sessions on Monday

For the Diagnostic Challenges session on Sunday

For the Trainee-Mentor Luncheon on Sunday

For the Trainee Peer Networking Breakfast on Sunday

For the Abstract Search/Itinerary Planner

For the #ASHG14 Tweetup on Saturday

Seeking invited sessions proposals in:

SCHEDULE OF SCIENTIFIC SESSIONS AND

8:00 AM - Exhibitor Registration Open Convention Center

5:00 PM - 1. ASHG Presidential Address: The Time Convention Center

8:00 AM - Exhibitor Registration Open Convention Center

12:00 PM - ASHG Trainee-Mentor Luncheon Convention Center

12:00 PM - Ayasdi Exhibitor Education Event: Convention Center

21. Developmental Genetics: Room 30, Upper Level

7:00 AM - Speaker Presentation/Upload Room Open Convention Center

31. Cardiovascular Genetics I: Single Room 20A, Upper

12:30 PM - Behind the Scenes: Mock NIH Study Convention Center

12:30 PM - ASHG Interactive Workshop: iSeqTools Convention Center

*12:30 PM - ACMG Foundation Development Marriott Marquis Hotel,

12:30 PM - Life Technologies-Thermo Fisher Scientific Convention Center

2:00 PM - Poster Session II (Monday Poster Convention Center

*6:30 PM - ICHG 2016 Scientific Program Committee Marriott Marquis Hotel

8:00 PM - UCSF Reception Marriott Marquis Hotel

10:00 AM - ASHG/FASEB Career Resources Open Convention Center

12:30 PM - ASHG Trainee Professional Convention Center

*12:30 PM - ACMG Secondary Finding Maintenance Convention Center

1:00 PM - RainDance Technology Exhibitor Convention Center

70. Genomic Medicine Case

Expo Ed: Exhibit Theater

PROFESSIONAL DEVELOPMENT PROGRAM

TRAINEE LOUNGE AND CAREER RESOURCES BOOTH