Whole genome sequencing

The human genome sequence stored in
nearly every cell in your body contains
all the instructions required to grow and
operate a human being, specifically you.
Whole genome sequencing reveals the
exact sequence of human DNA, the order
of 3 billion pairs of nucleotide bases.
There are four different nucleotide bases
in DNA — Guanine, Adenine, Thymine
and Cytosine — meaning the entire blue-
print for human life is spelled out with an
alphabet of four letters, G, A, T and C.
Around 20,000 long sequences of nucle-
otide base pairs make up genes, which
are recognizable instruction sets for mak-
ing proteins and other biological func-
tions. Only about two per cent of human
DNA is made up of genes, the balance is
non-coding DNA which remains poorly
understood.
Genetic markers indicate locations on
genes where mutations have occurred;
some markers may be associated with
inherited traits or disease. Most of the dif-
ferences are harmless copying errors that
occur over generations, while others alter
the function of a protein in a way that is
harmful.
Inexpensive direct-to-consumer genome
tests look at about 1 million locations
on genes where people are known to
differ from one another, some of which
have well-understood functions. Whole
genome sequencing usually identifies 3
to 4 million variations.
Earlier genetic tests typically focus on
locations known to be associated with
illness, usually screening for one or a
handful of mutations. Whole genome
sequencing — based on new high-
throughput technology for obtain-
ing DNA sequences — simultane-
ously screens for tens of thousands of
sequence variants known to be associ-
ated with disease, along with all the loca-
tions that have no known function or
association with disease ... yet.
To reveal the entire sequence, a sample
containing your DNA is chopped up into
small lengths. All the fragments are read
by the sequencer at the same time, what
is called massively parallel sequencing.
Because most of the code in people’s
DNA is so similar, the sequence of let-
ters can be put back in the right order
by comparing strings of genetic words
to those of a standard reference human
genome.
Genes and mutations that increase risk of disease
Human
cell
DNA
Nucleous Nucleous
chromosone
AA TT
G G CC
Chromosome 1
Protein encoder PSEN2 helps
govern chemical signals in the
brain. It is one of four genes
implicated in Alzheimer’s
disease.
Chromosome 3
SCLC1 is the genetic location
of an inherited code deletion
that leads to small cell lung
cancer.
Chromosome 4
The Huntington gene may
contain a repeated sequence
of nucleotides — the four-let-
ter code that makes up all DNA
— resulting in the creation of
a dysfunctional protein. Typi-
cally, the longer the sequence
of repeated code, the earlier
the degenerative symptoms
appear.
Chromosome 11
Three known mutations on the
APOA5 gene are strongly asso-
ciated with high blood trig-
lycerides, which increases the
risk of cardiovascular disease.
People of Asian and Hispanic
ancestry are most likely to
carry one of the risk variants.
Chromosome 19
APOE contains the code for
protein that transports choles-
terol and protects against vas-
cular disease. Two variants of
the gene produce an altered
protein structure associated
with atherosclerosis.
Chromosome 17 (and 13)
Mutations that interfere with the
function of BRCA1 gene may be
inherited from either parent. Of the
hundreds of mutations associated
with BRCA1 and BRCA2 (on chromo-
some 13), a few are known to increase
the risk of ovarian and breast cancer
by up to 30 times normal.
1
12 14
17
18 19
20
21
X Y
3
2
4
5
6
7
8
9
10
11
13
15 16
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