ASHG 2014 Schedule

10/15/2014
Schedule of Events | ASHG 2014 Annual Meeting
Schedule of Events
Ancillary and satellite meetings are reunion/university receptions or small meetings of editorial boards, committees, etc., and are not official ASHG functions.
(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.
Listings in bold-face indicate the event is an ASHG-sponsored scientific session, event or activity open to all scientific registrants.
Please note some events have a separate registration and require a ticket for admittance.
Indicates ASHG Committee Meetings.
Indicates Education-related events.
This 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 Trainee-related events.
This track highlights sessions, events, and workshops focused on skills development, career development, and networking that may be of particular
interest to trainees (graduate student, post doc, fellow, resident).
Indicates Clinical-related events.
This track highlights sessions, events, and workshops focused on clinical aspects of human genetics.
Indicates Social Issues-related events.
This track highlights sessions, events, and workshops focused on social, legal, and ethical issues in basic and clinical human genetics.
Indicates Exhibitor Education Events and Exhibit Theater Events.
The Exhibitor Events Track highlights educational programming by companies exhibiting at ASHG 2014. Topics range from presentation of new
research, case studies, and best practices.
All Sessions/Events
ASHG Sponsored
Scientific Sessions/Events
Ancillary
Events
Education Track
Trainee Track
Clinical Track
Social Issues Track
Exhibitor Track
Thursday, October 16 Sunday, October 19

9:00 AM - 6:00 PM
American Society for Bioethics and Humanities (ASBH) 16th Annual Meeting
Meeting begins Thursday, October 16 and ends Sunday, October 19 (separate
registration required)
Hilton Bayfront San Diego

Check website for details
Friday, October 17
*7:00 AM - 4:30 PM
FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 International

Research Consortium & Research Planning Meeting Day 1
Marriott Marquis & Marina

San Diego Ballroom A, North
Tower, Lobby Level
8:15 AM - 2:40 PM
ASHG High School Workshop (for local San Diego students and teachers.)
Convention Center
Room 25ABC, Upper Level
8:30 AM - 5:30 PM
UCSD Institute for Genomic Medicine Symposium: Genomics of the Single Cell
(separate registration required)
Sanford Consortium for

Regenerative Medicine,
University of California, San
Diego
*9:00 AM - 1:00 PM
ESHG Executive Board Meeting
Convention Center
Room 27B, Upper Level
*3:00 PM - 8:00 PM
ASHG Board of Directors Meeting #1

Coronado, South Tower, Level
4
http://www.ashg.org/cgi-bin/2014/ashg14SOE.pl?P=Y
1/16
10/15/2014
*4:00 PM - 5:45 PM
ABMGG Finance Committee Meeting

Vista, South Tower, Level 1
*6:00 PM - 9:00 PM
ABMGG Accreditation Committee Meeting

Oceanside, South Tower, Level
1
*6:00 PM - 9:00 PM
ABMGG Credentials Committee Meeting

Leucadia, South Tower, Level 1
*6:00 PM - 9:00 PM
ABMGG MOC Committee Meeting

Saturday, October 18
*7:00 AM - 4:30 PM
FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 International

Research Consortium & Research Planning Meeting Day 2

San Diego Ballroom A, North
Tower, Lobby Level
*7:30 AM - 4:00 PM
ACMG Board Meeting

Point Loma, South Tower,
Level 1
*7:30 AM - 4:30 PM
ABMGG Board of Directors Meeting

8:00 AM - 4:00 PM
ASHG Undergraduate Faculty Genetics Education Workshop

Separate advance registration required.
Convention Center
Room 24AB, Upper Level
8:00 AM - 5:00 PM
Exhibitor Registration Open
Convention Center
Lobby D, Ground Level
ASHG Board of Directors Meeting #2
Convention Center
Room 26A, Upper Level
8:30 AM - 3:45 PM
HGVS: Germline and Somatic Mosaicism (separate registration required)
Embassy Suites Downtown

Room TBD
8:30 AM - 4:30 PM
The 37th annual meeting of the Society of Craniofacial Genetics and

Developmental Biology. (separate registration required).
Sanford Consortium for

Regenerative Medicine
Duane Roth Auditorium
*9:00 AM - 12:00 PM
Philippine Genome Center Scientific Advisory Committee Meeting
Convention Center
Room 21, Upper Level
10:00 AM - 5:00 PM
Speaker Presentation/Upload Room Open

Speakers are required to upload their presentations here. We recommend
uploading at least 3 hours before your presentation time.
Convention Center
Room 33C, Upper Level
10:30 AM - 2:30 PM
ASHG/ASBH Joint Symposium: From Clinical to Community Sequencing: Emerging

Ethical, Legal and Social Issues in Genomics
Space is limited. Admission on a first-come first-serve basis.
Convention Center
12:00 PM - 6:00 PM
Scientific Registration Open
Convention Center
*8:30 AM - 3:00 PM
2/16
10/15/2014
*12:00 PM - 4:00 PM
ASHG Program Committee Meeting #1
Convention Center
12:00 PM - 4:00 PM
Ataxia-Telangiectasia, DNA Repair and Genome Instability Open Workshop (for

information contact: meyn@sickkids.ca or Rgatti@mednet.ucla.edu)

4
1:00 PM - 4:00 PM
Getting the Most from the Human Genome: Understanding Updates and Making
Use of Improvements in the Reference Assembly
Convention Center
2:30 PM - 4:00 PM
2:30 PM - 4:00 PM
2:30 PM - 4:30 PM
ASHG Interactive Workshop: Introduction to Accessing and Applying

ENCODE Data: An Interactive Workshop
Separate advance ticket purchase required.
ASHG Interactive Workshop: Ensembl Highlights (Intermediate/Advanced

Workshop)
Baylor College of Medicine Exhibitor Education Event
Convention Center
Convention Center
Convention Center
5:00 PM - 5:30 PM
1.
ASHG Presidential Address: The Time of Our Lives

Cynthia Casson Morton, Brigham and Women's Hospital/Harvard Medical
School
Convention Center
Hall B1, Ground Level
5:30 PM - 6:50 PM
2.
Plenary Abstracts Featured Presentation I
Convention Center
*7:00 PM - 8:00 PM
ACMG Committee Chairs Meeting

Level 1
*7:00 PM - 9:00 PM
American Journal of Medical Genetics Editorial Board Meeting

Catalina, South Tower, Level 4
7:00 PM - 9:00 PM
UCLA Reception

Rancho Santa Fe, North Tower,
Level 1
7:15 PM - 8:45 PM
Navigating the Thorny Landscape on a Path from Newborn Screening to Genome

Sequencing: A Play Brings to Life the Drama of DNA
RSVP in advance to Lynn Bush: lwb25@cumc.columbia.edu

Marina G, South Tower, Level 3
7:30 PM - 9:30 PM
#ASHG14 Tweetup
Join your fellow #ASHG14 tweeters for drinks and conversation after the
Presidential Address and Plenary Abstract Presentations.
The Tipsy Crow; 770 Fifth Ave
7:30 PM - 11:30 PM
SickKids Genetics & Genome Biology Program Reception

Marina F, South Tower, Level 3
Sunday, October 19
3/16
10/15/2014
7:00 AM - 8:00 AM
ASHG Trainee Peer Networking Breakfast

Convention Center
7:00 AM - 5:00 PM
Convention Center
7:00 AM - 5:00 PM

Convention Center
*7:00 AM - 8:00 AM
ASHG Communications Committee Meeting
Convention Center
*7:00 AM - 8:00 AM
ACMG Program Committee Meeting

Level 1
8:00 AM - 9:30 AM
3.
Distinguished Speakers Symposium: Separating Signal from Noise
Convention Center
8:00 AM - 6:00 PM
Convention Center
10:00 AM - 12:00 PM
Concurrent Invited Session I:
Convention Center
4.
Beyond Canonical CNVs: Interpreting Other Forms of Genomic Structural

Variation
Room 6CF, Upper Level
5.
Beyond Mendel: Complexities of Simple Mendelian Disorders
6.
Crowdsourced Genetics
7.
Curiouser and Curiouser! Navigating Career Transitions and Challenges in

Genetics
Room 20BC, Upper Level
8.
Targeted Drug Therapies for Progressive Genetic Disorders
Room 6DE, Upper Level
9.
The X-Factor of Complex Disease: From Evolution to Association Studies of

the X Chromosome
10.
Using Zebrafish to Model Human Genetic Disease Variation
11.
Whole Genome/Exome Sequencing: Patient Expectations, Literacy, and

Preferences for Genomic Information
Room 20D, Upper Level
10:00 AM - 5:00 PM
How Do You Think Genetic Research Will Affect the Future? The Genetic Portrait
Project An Interactive Art Initiative Exhibit
Convention Center
Lobby 20, Upper Level
11:00 AM - 7:00 PM
Exhibits Open
Convention Center
Exhibit Hall E, Ground Level
11:00 AM - 7:00 PM
Posters Open for Viewing
Convention Center
11:00 AM - 7:00 PM
ASHG/FASEB Career Resources Open

Coaches will be available to give attendees free career guidance, provide
interview tips, and critique resumes or CVs. Stop by to make your appointment.
Convention Center
Booth 1533, Exhibit Hall E,
Ground Level
11:00 AM - 7:00 PM
ASHG Trainee Lounge
Convention Center
Ground Level
4/16
10/15/2014
12:00 PM - 1:30 PM
Lunch Break, Open Viewing for Posters and Exhibits
Convention Center
12:00 PM - 1:30 PM
ASHG Trainee-Mentor Luncheon

Convention Center
12:00 PM - 1:30 PM
ASHG Trainee Professional Development Program (Sunday Session)

Space is limited. Admittance on a first-come, first-served basis.
Convention Center
Ground Level
12:00 PM - 1:30 PM
12:00 PM - 1:30 PM
ASHG Event: Diagnostic Challenges: Review and Discussion of Unique Cases

Separate advance ticket purchase required. ASHG acknowledges Children's
Hospital of Los Angeles for providing a grant in support of this session.
ASHG Interactive Workshop: Epigenomic Annotation of Genetic Variants

Using The Washington University Epigenome Browser
Convention Center
Room 2, Upper Level
Convention Center
*12:00 PM - 1:30 PM
IFHGS Board Meeting
Convention Center
*12:00 PM - 1:30 PM
ACMG PPG Committee Meeting
Convention Center
*12:00 PM - 1:30 PM
Human Molecular Genetics Editorial Board Meeting
Convention Center
*12:00 PM - 1:30 PM
MGM Editorial Board Meeting - Elsevier
Convention Center
12:00 PM - 1:15 PM
Illumina Exhibitor Education Event #1: From Sample to Answer Comprehensive

Next-Generation Sequencing Solutions to turn Genomic Information into Disease
Insight
Convention Center
Room 4, Upper Level
12:00 PM - 1:30 PM
Affymetrix Exhibitor Educational Event: Use of microarrays in reproductive health

studies
Convention Center
Room 3, Upper Level
12:00 PM - 1:30 PM
Ambry Genetics Exhibitor Education Event: Diagnostic Exome Sequencing In

Neonatal Patients: A Rapid Option for Diagnosis and Management in a Fragile
Patient Population
Convention Center
12:00 PM - 1:30 PM
Ayasdi Exhibitor Education Event: Application of Topological Data Analysis (TDA)

to Precision Medicine
Convention Center
12:00 PM - 1:30 PM
Bio-Rad Laboratories Exhibitor Education Event: Exploring Depths of the Human

Genome With Droplet Digital PCR
Convention Center
12:00 PM - 1:30 PM
Building your Genomics Business with SBIR/STTR Support from NHGRI and the
NIH
Convention Center
12:00 PM - 1:30 PM
LGC Exhibitor Education Event: Functional Validation of Genetic Variation in

Population Genomics
Convention Center
12:00 PM - 1:30 PM
Macrogen Exhibitor Education Event: Next Generation Sequencing: A Key to New

Discoveries
Convention Center
5/16
10/15/2014
12:00 PM - 1:30 PM
Roche Diagnostics Exhibitor Education Event: A Glimpse into the Future of NextGeneration Sequencing
Convention Center
12:00 PM - 1:30 PM
Personalis Exhibitor Education Event: Advancing Genome Based Discovery and

Diagnostics in Cancer, Cardiology and Rare Disease
Convention Center
Room 9, Upper Level
12:00 PM - 1:30 PM
Omicia Next-Gen Sequencing Analysis Workshop: Accelerating NGS Discovery

with Omicia Opal and VAAST 2.0

Mission Hill, South Tower,
Level 3
12:15 PM - 1:00 PM
Exhibit Theater: Quantifying the public health burden of foodborne

extraintestinal pathogenic Escherichia coli, Beckman Coulter Genomics
Convention Center
Ground Level
Concurrent Platform Session A:
Convention Center
12.
Patterns and Determinants of Genetic Variation: Recombination, Mutation,

and Selection
13.
Genomic Studies of Autism
14.
Statistical Methods for Pedigree-Based Studies
15.
Prostate Cancer: Expression Informing Risk
16.
Variant Calling: What Makes the Difference?
17.
New Genes, Incidental Findings and Unexpected Observations Revealed by

Exome Sequencing
18.
Type 2 Diabetes Genetics
19.
Genomic Methods in Clinical Practice
20.
Genetics and Mechanisms in Neurological Disorders
21.
Developmental Genetics: Immunodeficiencies and Autoimmune Disorders
1:30 PM - 3:30 PM
2:30 PM - 3:45 PM
Genetics in Motion Movie: Twitch with Kristen Powers

This movie explores the impact of genetic testing on a young person whose
mother has Huntingtons Disease and examines the basic science of the disease
itself.
Convention Center
Ground Level
3:45 PM - 4:30 PM
Exhibit Theater: New International Guidelines for the Management and

Treatment of Morquio A Syndrome, BioMarin Pharmacuticals
Convention Center
Ground Level
4:00 PM - 6:00 PM
Poster Session I (Sunday Poster Authors Present)
Convention Center
4:45 PM - 5:30 PM
Exhibit Theater: Solutions to Help Maximize Throughput for High-Capacity Next

Generation Sequencing,Beckman Coulter Genomics
Convention Center
Ground Level
5:45 PM - 6:30 PM
Exhibit Theater: Best Practices in Manual Pipetting, Artel
Convention Center
Ground Level
6:00 PM - 7:00 PM
ASHG Welcome Reception
Convention Center
6/16
10/15/2014
6:30 PM - 7:30 PM
2014 Gruber Genetics Prize Ceremony and Lecture

New time and format for 2014.
Convention Center
6:00 PM - 7:30 PM
American Board of Bioanalysis (ABB) Board Certification in Molecular Diagnostics

Reception
Convention Center
*6:00 PM - 9:00 PM
ACMG Lab QA Biochemical Genetics Subcommittee Meeting

Level 1
*6:00 PM - 9:00 PM
ACMG Lab QA Cytogenetics Subcommittee Meeting

1
*6:00 PM - 9:00 PM
ACMG Lab QA Molecular Genetics Committee Meeting

*6:30 PM - 7:30 PM
Beckman Coulter Genomics Customer Reception

Newport Beach, South Tower,
Level 4
*6:30 PM - 8:00 PM
Human Mutation Editorial Board Meeting

7:00 PM - 10:00 PM
Life Technologies In Theatre Lecture Series
Reading Cinemas Gaslamp 15;

701 5th Ave
7:15 PM - 9:00 PM
Association of Chinese Geneticists in America (ACGA) Annual Meeting

Marina F, South Tower, Level 3
7:30 PM - 9:30 PM
University of Pittsburgh Reunion
Caf Sevilla
353 Fifth Avenue
7:30 PM - 9:30 PM
Duke University Human Genetics Alumni Reception

La Costa, South Tower, Level 4
7:45 PM - 9:30 PM
1000 Genomes Data Tutorial
Convention Center
Monday, October 20
6:30 AM - 8:00 AM
Genzyme CME Program: Small Molecule Therapy for Gaucher Disease
Convention Center
7:00 AM - 5:00 PM

Convention Center
7:00 AM - 5:00 PM
Convention Center
Human Variome Project International Scientific Advisory Committee Meeting
Residence Inn San Diego

Downtown/Gaslamp Quarter
1st Floor
*7:00 AM - 9:00 AM
7/16
10/15/2014
*7:00 AM - 8:00 AM
ACMG Education Committee Meeting

1
8:00 AM - 4:00 PM
Convention Center
8:00 AM - 8:25 AM
22.
Plenary Abstracts Featured Presentation II
Convention Center
8:30 AM - 8:45 AM
23.
ASHG Award for Excellence in Human Genetics Education Presentation
Convention Center
8:45 AM - 9:00 AM
24.
ASHG Victor A. McKusick Leadership Award Presentation
Convention Center
9:00 AM - 9:30 AM
25.
ASHG Curt Stern Award Presentation
Convention Center
9:30 AM - 10:00 AM
26.
ASHG William Allan Award Presentation
Convention Center
10:00 AM - 4:00 PM
Exhibits Open
Convention Center
10:00 AM - 4:00 PM
Convention Center
10:00 AM - 4:00 PM

Convention Center
Ground Level
10:00 AM - 5:00 PM
How Do You Think Genetic Research Will Affect the Future?The Genetic Portrait
Convention Center
10:00 AM - 4:00 PM
ASHG Trainee Lounge
Convention Center
Ground Level
10:30 AM - 12:30 PM
Concurrent Platform Session B:
Convention Center
27.
Cloudy with a Chance of Big Data
28.
Architecture and Impact of Human Knockout Alleles
29.
Population Structure, Admixture, and Human History
30.
Neurogenetics: From Gene to Mechanism (I)
31.
Cardiovascular Genetics I: Single Gene Stories
32.
Molecular Insights into Mendelian Disorders
33.
Genomic Alterations of Tumors
34.
Metabolic Disorders: New Diagnostics and Pathogenic Insights
35.
Looking between the Streetlamps: Variant Phasing and Imputation
36.
Chromatin, Gene Regulation and Expression
12:30 PM - 2:00 PM
Convention Center
8/16
10/15/2014
12:30 PM - 2:00 PM
12:30 PM - 2:00 PM
12:30 PM - 2:00 PM
12:30 PM - 2:00 PM
ASHG Trainee Professional Development Program (Monday Session)

Space is limited. Admission on a first-come, first-served basis.
ASHG Interactive Workshop: Advanced Features of the UCSC Genome

Browser
Behind the Scenes: Mock NIH Study Section Workshop
ASHG Interactive Workshop: iSeqTools to De-mistify the Cloud and

Genomics Analysis for Researchers Seeking Ways to Analyze High-Throughput
DNA Sequencing Data
Convention Center
Ground Level
Convention Center
Convention Center
Convention Center
*12:30 PM - 2:00 PM
AJHG Editorial Board Meeting
Convention Center
*12:30 PM - 2:00 PM
ASHG Information and Education Committee Meeting
Convention Center
*12:30 PM - 2:00 PM
ASHG/NHGRI Public Policy Fellows Luncheon
Convention Center
*12:30 PM - 2:00 PM
ACMG Economics of Genetic Services Committee Meeting

1
*12:30 PM - 2:00 PM
ACMG Foundation Development Committee Meeting

Encinitas Room, South Tower,
Level 3
*12:30 PM - 2:00 PM
Genetic Epidemiology Editorial Board Meeting
Convention Center
12:30 PM - 2:00 PM
Bina Technologies Exhibitor Education Event: Fast, Accurate, Easy to Use Data
Analysis Solutions
Convention Center
12:30 PM - 2:00 PM
NanoString Technology Exhibitor Education Event: A Proven Technology for the

Rapid Translation of Genomic Discovery to a Clinically Validated Assay:
Multiplexed, Amplification-Free, Single-Molecule Digital Counting of DNAs, RNAs
and Proteins
Convention Center
12:30 PM - 2:00 PM
Affymetrix Exhibitor Education Event: Higher genomic coverage for increased

scientific insights
Convention Center
Room 3, Upper Level
12:30 PM - 2:00 PM
Agilent Technologies Exhibitor Education Event: Expert Insights: Advancing

Cancer and Constitutional Research with High Sensitivity Genomic Solutions for
Accurate Variant Detection
Convention Center
12:30 PM - 2:00 PM
BGI Exhibitor Education Event: Human Disease Research and Consumer Genomics
in the Era of Next-Gen Sequencing
Convention Center
Room 9, Upper Level
9/16
10/15/2014
12:30 PM - 2:00 PM
BioNano Genomics Exhibitor Education Event: Exploring the Dark Matter of the
Genome: Uncovering the Full Impact of Structural Variation in Cancer and the
Human Genome
Convention Center
12:30 PM - 2:00 PM
Cartagenia, Inc. Exhibitor Education Event: Combining NGS and CNV Assays:
Diagnostic Interpretation and Reporting for Prenatal, Postnatal and Oncology
Applications
Convention Center
12:30 PM - 2:00 PM
Clinical Genome (ClinGen) Resource Program Luncheon
Convention Center
12:30 PM - 2:00 PM
DNANexus Exhibitor Education Event: Addressing the Challenges in Genomic

Analysis and Data Management
Convention Center
Room 2, Upper Level
12:30 PM - 2:00 PM
DNASTAR Exhibitor Education Event: Gene Panel Workflows in Lasergene

Genomics Suite
Convention Center
12:30 PM - 2:00 PM
Illumina Exhibitor Education Event #2: User Experiences: TruSight Myeloid

research panel & the 1st NGS IVD Assay for Cystic Fibrosis Testing
Convention Center
Room 4, Upper Level
12:30 PM - 2:00 PM
Life Technologies a Thermo Fisher Scientific Brand Exhibitor Education Event:

Digital & qPCR Applications to Accelerate Human Disease Research
Convention Center
Room 8, Upper Level
12:30 PM - 2:00 PM
New England Biolabs Exhibitor Event: NEBNext NGS sample prep: New
Developments and Applications
Convention Center
12:30 PM - 2:00 PM
Nextcode Health Exhibitor Education Event: One Proven Platform Enables the
Use of NGS Data Both for Clinical Diagnostic Interpretation and Massive Cohortbased Discovery
Convention Center
12:30 PM - 2:00 PM
Omicia Exhibitor Education Event: Accelerating Interpretation of the Clinical

Exome with Omicia Opal and Phevor
Convention Center
BioMed Central Editorial Board Meeting
Convention Center
*12:30 PM - 2:00 PM
12:45 PM - 1:45 PM
12:45 PM - 1:30 PM
Poster Walk I
NEW for 2014! Advance Registration Required
Convention Center
Exhibit Theater: Superior Sequencing Coverage and Uniformity in Affordable

Gene Panels That You Can Customize, Integrated DNA Technologies
Convention Center
Ground Level
1:45 PM - 2:30 PM
Exhibit Theater: Why Accuracy Matters: Improving Discovery and Diagnostics for
Whole Genomes and Exomes, Personalis
Convention Center
Ground Level
2:00 PM - 4:00 PM
Poster Session II (Monday Poster Authors Present)
Convention Center
2:45 PM - 3:30 PM
Exhibit Theater: Arrays and NGS - High Resolution Analysis of the Medical Exome,
OGT
Convention Center
Ground Level
10/16
10/15/2014
4:30 PM - 6:30 PM
6:30 PM - 8:00 PM
Concurrent Platform Session C:
Convention Center
37.
From Bytes To Phenotypes
38.
Rare Mutations, Well Done
39.
Cardiovascular Genetics II: Genetic Discovery and Characterization
40.
Genetics of Complex Neuropsychiatric Disorders
41.
Statistical Methods for Population Based Studies
42.
Genome Variation and its Impact on Autism and Brain Development
43.
ELSI Issues in Genetics
44.
Prenatal, Perinatal, and Reproductive Genetics
45.
Advances in Defining the Molecular Mechanisms of Mendelian Disorders
46.
Epigenomics of Normal Populations and Disease States
ASHG Trainee Networking Session

Network with professionals in a wide range of genetics-related careers. Separate
advance ticket purchase required.
Convention Center
Ballroom 20D/Terrace, Upper
Level
*6:30 PM - 10:30 PM
ICHG 2016 Scientific Program Committee Meeting

Cardiff/Carlsbad, Level 3
*6:30 PM - 7:30 PM
ACMG Social, Ethical and Legal Issues (SELI) Committee Meeting

1
6:30 PM - 9:30 PM
Global Alliance for Genomics and Health Information Session
Convention Center
Room 8, Upper Level
6:30 PM - 8:00 PM
CCMG & CIHR Institute of Genetics Mixer with SickKids Centre for Genetic
Medicine

Marina E, South Tower, Level 3
6:30 PM - 8:00 PM
Cleveland Clinic Genomic Medicine Institute Reception

6:30 PM - 8:30 PM
Baylor College of Medicine Department of Molecular and Human Genetics

Reception

Marina D, South Tower, Level
3
6:30 PM - 8:30 PM
The Ohio State University Comprehensive Cancer Center (OSUCCC) James Scarlet
and Gray Reception

Santa Rosa, South Tower,
Level 1
6:30 PM - 10:00 PM
Regeneron Genetic Center Reception
Convention Center
ASHG Future of the Annual Meeting (FoAM) Ad-Hoc Meeting
Convention Center
6:30 PM - 8:00 PM
Fluidigm Exhibitor Education Event: From bulk samples to a single-cell, a vision

to standardize sequencing for translational genetics
Hard Rock Hotel
6:45 PM - 8:00 PM
PALB2 Interest Group Meeting (for information contact: Marc Tischkowitz

mdt33@cam.ac.uk)
Convention Center
*6:30 PM - 8:30 PM
11/16
10/15/2014
*6:45 PM - 7:45 PM
GIANT Consortium
Convention Center
*7:00 PM - 10:00 PM
ACMG Lab QA Full Committee Meeting

Level 1
*7:00 PM - 9:00 PM
Mount Sinai Alumni Reception

La Costa, South Tower, Level 4
Johns Hopkins Institute of Genetic Medicine Reception

4
RUCDR Infinite Biologics and BioProcessing Solutions Networking Reception

Solana, South Tower, Level 1
7:00 PM - 9:00 PM
Iowa Institute of Human Genetics University of Iowa Alumni Reception

Roy's Hawaiian Fusion
Restaurant
7:30 PM - 9:30 PM
University of Maryland School of Medicine/Program in Personalized & Genomic

Medicine/Institute for Genome Sciences Reception

Balboa, South Tower, Level 3
7:30 PM - 10:30 PM
2014 Annual University of Chicago Department of Human Genetics Dessert

Reception

Mission Hill, South Tower,
Level 3
8:00 PM - 10:00 PM
University of Michigan Department of Human Genetics Alumni Gathering

8:00 PM - 11:30 PM
UCSF Reception

DelMar, South Tower, Level 3
8:00 PM - 10:00 PM
Department of Genetics and Genome Sciences, Department of Epidemiology and

Biostatistics, and Institute for Computational Biology at Case Western Reserve
University Reception

Rancho Santa Fe, North Tower,
Level 1
9:00 PM - 11:00 PM
CHOP/PENN REUNION

Newport Beach, South Tower,
Level 4
7:00 PM - 9:30 PM
*7:00 PM - 10:00 PM
Tuesday, October 21
*6:00 AM - 8:00 AM
ACMG Maintenance of Certification Committee Meeting

*7:00 AM - 8:00 AM
ACMG GGRC Planning Committee
Convention Center
*7:00 AM - 8:00 AM
ASHG Training and Development Committee Meeting
Convention Center
12/16
10/15/2014
7:00 AM - 5:00 PM

Convention Center
7:30 AM - 5:00 PM
Convention Center
8:00 AM - 4:15 PM
Convention Center
8:00 AM - 8:25 AM
47.
Plenary Abstracts Featured Presentation III
Convention Center
8:30 AM - 10:00 AM
48.
ASHG/ESHG Building Bridges Session:Towards Finding Global Agreement

on Topical Discussions in Genetics: Evolving Uncertainties in Genomic
Medicine
Convention Center
10:00 AM - 4:15 PM
Exhibits Open
Convention Center
10:00 AM - 4:00 PM
Convention Center
10:00 AM - 4:00 PM

Convention Center
Ground Level
10:00 AM - 5:00 PM
How Do You Think Genetic Research Will Affect the Future? The Genetic Portrait
Convention Center
10:00 AM - 4:00 PM
ASHG Trainee Lounge
Convention Center
Ground Level
10:30 AM - 12:30 PM
Concurrent Platform Session D:
Convention Center
49.
Detailing the Parts List Using Genomic Studies
50.
Statistical Methods for Multigene, Gene Interaction and Pathway Analyses
51.
Neurogenetics: From Gene to Mechanism (II)
52.
Contribution of Common and Rare Variation to Obesity-Related Traits
53.
The Dynamic Genome: Structural and Somatic Variation
54.
Expanding Clinical Phenotypes
55.
Cancer Susceptibility Genes: Identification and Implementation
56.
Balanced and Unbalanced Chromosomal Rearrangements
57.
Diagnostic Yield of New Genomic Technologies
58.
Genetic/Genomic Education and Services Delivery
10:30 AM - 11:25 AM
*12:30 PM - 2:00 PM
Genetics in Motion Movie: On Beauty with Rick Guidiotti
Convention Center
Ground Level
ASHG Advocates Luncheon: Genetic Testing in Children and Adolescents
Convention Center
13/16
10/15/2014
12:30 PM - 2:00 PM
Convention Center
ASHG Program Committee Meeting #2
Convention Center
12:30 PM - 2:00 PM
ASHG Trainee Professional Development Program (Tuesday Session)

Space is limited. Admission on a first-come, first-served basis.
Convention Center
Ground Level
12:30 PM - 2:00 PM
Behind the Scenes: ASHG Publications Workshop

Convention Center
*12:30 PM - 2:00 PM
12:30 PM - 2:00 PM
ASHG Interactive Workshop: Best Practices for Variant Discovery with the
GATK
12:30 PM - 2:00 PM
*12:30 PM - 2:00 PM
ASHG Interactive Workshop: Clinical Genomics at NCBI

Convention Center
Convention Center
ACMG Secondary Finding Maintenance Working Group
Convention Center
Association of Professors of Human and Medical Genetics (APHMG) and SIGs

Business Meeting and Lunch
Convention Center
MGM Reports Editorial Board Meeting - Elsevier
Convention Center
12:30 PM - 1:45 PM
QIAGEN Exhibitor Education Event: Your Best Data: Teaming QIAGEN Chemistry &
Infomatics to Drive Samples to Insight
Convention Center
12:30 PM - 2:00 PM
Complete Genomics (A BGI Company) Exhibitor Education Event: Clinical

Applications of Whole Genome Sequencing
Convention Center
Room 9, Upper Level
12:30 PM - 2:00 PM
Human Variome Project Sequence Variant Description Workshop
Convention Center
12:30 PM - 2:00 PM
Life Technologies a Thermo Fisher Scientific Brand Exhibitor Education Event:

NGS Breakthroughs in Genetics Research with Ion Torrent Sequencing: From
Research to the Clinic
Convention Center
Room 8, Upper Level
12:30 PM - 2:00 PM
Pacific Biosciences Exhibitor Education Event:: A New Look at the Human

Genome - Novel Insights with Long-read PacBio Sequencing
Convention Center
Room 2, Upper Level
12:30 PM - 2:00 PM
TECHNIDATA Exhibitor Education Event: The Role of Biobanks in the Modern

Laboratory
Convention Center
12:30 PM - 2:00 PM
ASHG/FASEB MARC Awardees Luncheon
Convention Center
12:30 PM - 2:00 PM
*12:30 PM - 2:00 PM
12:45 PM - 1:45 PM
Convention Center
14/16
10/15/2014
Poster Walk II
NEW for 2014! Advance Registration Required
12:45 PM - 1:30 PM
Exhibit Theater: Revolutionizing Carrier Screening: Leveraging NGS & Powerful

Data Analytics to Build a Single Test for Hundreds of Diseases, Without
Population Exclusivity, Gene by Gene
Convention Center
Ground Level
1:00 PM - 2:00 PM
RainDance Technology Exhibitor Education Event: Detecting Circulating Nucleic

Acids by Fluid Biopsy and Profiling Somatic Tumors with Next-Gen DNA
Convention Center
1:45 PM - 2:30 PM
Exhibit Theater: An integrated molecular medicine platform for interpreting and

reporting on patient genomic profiles, Thomson Reuters
Convention Center
Ground Level
2:00 PM - 4:00 PM
Poster Session III (Tuesday Poster Authors Present)
Convention Center
4:30 PM - 6:30 PM
Concurrent Platform Session E:
Convention Center
59.
We Have the Technology: Next-Generation Genomic Methods
60.
Hereditary Breast-Ovarian Cancer
61.
Genomic Studies of Schizophrenia and Bipolar Disorder
62.
From Association to Function in Complex Traits
63.
Therapy for Genetic Disorders
64.
Exome Sequencing as Standard of Care in Clinical Genetics
65.
Beyond the Sequence: Genomic Regulation and Disease
66.
A Clear Vision for Genetic Eye Diseases
67.
Autoimmune Genes: Discovery & Function
68.
Pharmacogenetics: From Association to Action
*6:30 PM - 8:00 PM
ASHG Awards Committee Meeting
Convention Center
*6:30 PM - 8:30 PM
MatchmakerExchange API Working Group Meeting
Convention Center
Wednesday, October 22
7:00 AM - 10:00 AM

Convention Center
7:30 AM - 10:00 AM
Convention Center
9:00 AM - 11:00 AM
Concurrent Invited Session II:
Convention Center
69.
Circulating Cell-Free Nucleic Acids as Clinical Biomarkers
70.
Genomic Medicine Case Conference: Illustrative Clinical Examples
71.
Genomic Variation: Interpreting the Uninterpreted
72.
Genetics of Sleep and Circadian Disorders
15/16
10/15/2014
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 - 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
Convention Center
12:30 PM - 5:00 PM
ACMG ClinGen Workshop- Closed Meeting
Convention Center
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ASHG 2014 Schedule

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ASHG 2014 Schedule

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10/15/2014

Schedule of Events | ASHG 2014 Annual Meeting

Social Issues Track

Thursday, October 16 Sunday, October 19

Hilton Bayfront San Diego

FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 International

Marriott Marquis & Marina

Sanford Consortium for

ESHG Executive Board Meeting

ASHG Board of Directors Meeting #1

Marriott Marquis & Marina

Schedule of Events | ASHG 2014 Annual Meeting

ABMGG Finance Committee Meeting

Marriott Marquis & Marina

ABMGG Accreditation Committee Meeting

Marriott Marquis & Marina

ABMGG Credentials Committee Meeting

Marriott Marquis & Marina

ABMGG MOC Committee Meeting

Marriott Marquis & Marina

FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 International

Marriott Marquis & Marina

ACMG Board Meeting

Marriott Marquis & Marina

ABMGG Board of Directors Meeting

Marriott Marquis & Marina

ASHG Undergraduate Faculty Genetics Education Workshop

Exhibitor Registration Open

ASHG Board of Directors Meeting #2

HGVS: Germline and Somatic Mosaicism (separate registration required)

Embassy Suites Downtown

The 37th annual meeting of the Society of Craniofacial Genetics and

Sanford Consortium for

Philippine Genome Center Scientific Advisory Committee Meeting

Speaker Presentation/Upload Room Open

ASHG/ASBH Joint Symposium: From Clinical to Community Sequencing: Emerging

Scientific Registration Open

Schedule of Events | ASHG 2014 Annual Meeting

Lobby D, Ground Level

ASHG Program Committee Meeting #1

Ataxia-Telangiectasia, DNA Repair and Genome Instability Open Workshop (for

Marriott Marquis & Marina

ASHG Interactive Workshop: Introduction to Accessing and Applying

ASHG Interactive Workshop: Ensembl Highlights (Intermediate/Advanced

ASHG Presidential Address: The Time of Our Lives

Plenary Abstracts Featured Presentation I

ACMG Committee Chairs Meeting

Marriott Marquis & Marina

American Journal of Medical Genetics Editorial Board Meeting

Marriott Marquis & Marina

Marriott Marquis & Marina

Navigating the Thorny Landscape on a Path from Newborn Screening to Genome

Marriott Marquis & Marina

The Tipsy Crow; 770 Fifth Ave

SickKids Genetics & Genome Biology Program Reception

Marriott Marquis & Marina

Schedule of Events | ASHG 2014 Annual Meeting

ASHG Trainee Peer Networking Breakfast

Scientific Registration Open

Speaker Presentation/Upload Room Open

ASHG Communications Committee Meeting

ACMG Program Committee Meeting

Marriott Marquis & Marina

Distinguished Speakers Symposium: Separating Signal from Noise