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http://www.bionanogenomics.com/wp-content/uploads/2015/02/BioNano-Press-Release-GigaScience-20150209-FINAL.pdf
Date: Feb 09, 2015 Source: Company Data (
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Research Documents
Rapid Detection of Structural Variation
in a Human Genome Using BioNano's Irys System
SAN DIEGO and SHENZHEN, China
—
February
9
, 2015
—
BioNano Genomics
, Inc., the leader in genome
mapping, and
BGI,
the world
's largest genomics organization,
highlight
the publication of a peer
-‐
reviewed
research
article
and its accompanying data
*
in
Giga
Science
.
This article
describes
the rapid
detection of
structural variation in a human genome using the high
-‐
throughput, cost
-‐
effective genome
mapping
technology of the
I
rys®
System
. Structural variations are
known
to play an important role in
human genetic diversi
ty and disease susceptibility.
However, c
ompre
hensive, efficient and unbiased
discovery of
structural variations has previous
ly not been possible through next generation
sequencing
(NGS)
and
DNA arrays
with their inherent technology limitations.
Th
is
study
show
ed that the Irys System
was able to
detect more
than 600 structural variations
larger
than
1kb
in a single human genome.
Approximately
30 percent
of detected structural variations
affected
coding
regions,
responsible for
making
proteins.
P
roteins p
articipate in virtually every process within
cells
,
suggesting
that
these structural variations may
have a deep
impact
on
human health.
The Irys
System
also
accurately mapped the sequence of a virus that
had
int
egrated into the genome.
Th
e ability
to provide this type of
information may help inform
how virus sequence integration
can
lead to diseases
such as
cancer.
"
We found that BioNano's Irys System helps overcome the technological issues that have severely
limited our understanding of the human genome
," said Xun Xu,
d
eputy
d
irector at
BGI
.
"
In a
matter of
days
and with fewer than three Irys
Chi
p®
, we were able to collect enough data for
de novo
assembly of
a human genome and perform comprehensive structural variation detection without additional
technologies or multiple library preparations.
BioNano has s
ince improved throughput of the Irys
system enabling enough data for human genome
de novo
assembly to be collected in one day on a
single IrysChip.
"
Genome
map
s built
using
the Irys System reveal biologically and clinically significant or
der and
orientation of functionally relevant components
in
complex genomes
. T
his
includ
es
genes, promoters,
regulatory elements, the
length and location of long areas of repeats
,
as well as viral integration sites
.
"
T
he Irys System
provides a single, cost
-‐
effective technology platform solution to
assemble a
comprehensive view of a genome
and discover and investigate structural variations
," said Han Cao,
Ph.D., founder and
chief scientific officer
of BioNano Genomics.
"
The Irys System
enables
de novo
assembly of genomes containing complex, highly variable regions and accurate detection of all types of
structural variation, both balanced and imbalanced, within complex heterogeneous samples
."
The Irys System has previously been used to
map the 4.7
-‐
Mb highly variable human major
histocompatibility complex (MHC) region and to enable a
de novo
assembly of a 2.1
-‐
Mb region in the
highly complex genome of
Aegilops tauschii
, one of three progenitor genomes that make up today's
wheat
.
BGI
a
c
quired the
Irys System
in 2014
to enable comprehensive exploration of structural variation in the
human genome and to provide vastly improved assemblies for various organisms
that have very
complex genomic structure
, including those
organisms
where no refe
rence exists.
Together with other available platforms, BGI aim
s
to provide researchers with the most comprehensive information and
comprehensive
interpretation
