Science - USA (2019-01-04)

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18 4 JANUARY 2019 • VOL 363 ISSUE 6422 sciencemag.org SCIENCE

I


n early 2017, epidemiologist Rory
Collins at the University of Oxford in
the United Kingdom and his team
faced a test of their principles. They
run the UK Biobank (UKB), a huge
research project probing the health
and genetics of 500,000 British peo-
ple. They were planning their most
sought-after data release yet: genetic
profiles for all half-million participants.
Three hundred research groups had signed
up to download 8 terabytes of data—the
equivalent of more than 5000 streamed
movies. That’s enough to tie up a home
computer for weeks, threatening a key goal
of the UKB: to give equal access to any
qualified researcher in the world.
“We wanted to create a level playing
field” so that someone at a big center with
a supercomputer was at no more of an ad-
vantage than a postdoc in Scotland with a
smaller computer and slower internet link,
says Oxford’s Naomi Allen, the project’s chief
epidemiologist. They came up with a plan:
They gave researchers 3 weeks to download

the encrypted files. Then, on 19 July 2017,
they released a final encryption key, firing
the starting gun for a scientific race.
Within a couple of days, one U.S. group
had done quick analyses linking more than
120,000 genetic markers to more than
2000 diseases and traits, data it eventu-
ally put up on a blog. Only 60,000 markers
had previously been tied to disease, says
human geneticist Eric Lander, president
and director of the Broad Institute in Cam-
bridge, Massachusetts. “[They] doubled
that in a week.”
Within 2 weeks, others had begun to
post draft manuscripts on the bioRxiv pre-
print site. By now, those data have spawned
dozens of papers in journals or on bioRxiv,
firming up how particular genes contrib-
ute to heart disease, diabetes, Alzheimer’s,
and other conditions, as well as genes’ role
in shaping personality, depression, birth
weight, insomnia, and other traits. More
controversially, data from the trove also
pointed to DNA markers linked to educa-
tion level and sexual orientation, stoking

long-running controversies about the ap-
plication of genetics to behavior in people.
When the Manchester-based UKB en-
rolled its first volunteer 13 years ago, some
critics wondered whether it would be a
waste of time and money. But by now, any
skepticism is long gone. “It’s now clear
that it has been a massive success—largely
because the big data they have are being
made widely available,” says Oxford de-
velopmental neuropsychologist Dorothy
Bishop, a participant. Other biobanks are
bigger or collect equally detailed health
data. But the UKB has both large numbers
of participants and high-quality clinical
information. It “allows us to do research
on a scale that we’ve never been able to do
before,” says Peter Visscher, a quantitative
geneticist at the University of Queensland
in Brisbane, Australia.
The crucial ingredient, however, may be
open access. Researchers around the world
can freely delve into the UKB data and rap-
idly build on one another’s work, resulting
in unexpected dividends in diverse fields,

How an open-access trove of


data on Britons is unlocking


the genetics of disease,


behavior, and physical traits


BIOLOGY


IN THE BANK


FEATURES


PHOTO: NIGEL HILIER

By Jocelyn Kaiser and Ann Gibbons

Published by AAAS

on January 3, 2019^

http://science.sciencemag.org/

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