The Haplotype Reference Consortium (HRC) unveiled at the American Society of Human Genetics (ASHG) 2014 aims to become the world’s most comprehensive database of genetic variations. The newly launched NextCODE Exchange will provide a browser-based hub for multi-center sharing and collaboration on collective genomic data from massive whole-genome databases like the HRC to accelerate research worldwide.

1. Maintaining
Momentum
Post-­‐ASHG:
Maximizing
the
Value
of
Large
Genomic
Databases
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. Great
momentum
from
ASHG
2014
The
American
Society
of
Human
Gene=cs
(ASHG)
mee=ng
convened
this
week
in
San
Diego,
bringing
together
gene=cs
experts
from
around
the
world
to
discuss
programs
with
great
poten=al
to
advance
genomic-­‐based
medicine
in
the
years
to
come.

3. Great
momentum
from
ASHG
2014
To
maintain
the
momentum
generated
this
week,
we
need
to
find
ways
to
integrate
these
important
ideas,
insights
and
programs,
and
to
maximize
the
use
of
the
massive
databases
that
have
been
launched
to
support
research
on
cancer,
rare
diseases
and
other
pressing
health
topics.

4. Promise
of
Large
Databases
• One
of
the
databases
unveiled
during
the
mee=ng
was
the
Haplotype
Reference
Consor=um,
which
aims
to
become
the
world’s
most
comprehensive
database
of
gene=c
varia=ons.
• Large
databases
like
the
HRC,
along
with
several
others
already
underway,
can
be
tremendously
helpful
to
researchers
finding
answers
to
some
of
the
most
challenging
diseases.
But
there
remains
a
significant
boQleneck:
these
large,
cumbersome
databases
cannot
easily
be
shared
and
manipulated,
limi=ng
their
u=lity
for
broad,
mul=-­‐
center
genomic
research.

5. SoluEon:
The
NextCODE
Exchange
• The
solu=on
lies
in
the
newly
launched
NextCODE
Exchange
(see
release
here).
This
browser-­‐based
hub
allows
for
the
sharing
and
harmonizing
of
massive
whole-­‐genome
databases
like
the
HRC
to
accelerate
research.
The
integrated
architecture
allows
users
to
visually
confirm
and
validate
findings
in
raw
sequences,
collabora=ng
and
sharing
with
others
around
the
world
who
may
have
complementary
research
underway.

6. ExciEng
Times
Ahead
The
momentum
generated
during
ASHG
will
be
mul=plied
by
sharing
and
learning
from
the
world’s
collec=ve
genomic
data
on
the
NextCODE
Exchange.
Read
more
about
NextCODE’s
work
here.