Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

被引：194

作者：

Szustakowski, Joseph D. ^{[1
]}

Balasubramanian, Suganthi ^{[2
]}

Kvikstad, Erika ^{[1
]}

Khalid, Shareef ^{[2
]}

Bronson, Paola G. ^{[3
]}

Sasson, Ariella ^{[1
]}

Wong, Emily ^{[4
]}

Liu, Daren ^{[2
]}

Wade Davis, J. ^{[5
]}

Haefliger, Carolina ^{[6
]}

Katrina Loomis, A. ^{[7
]}

Mikkilineni, Rajesh ^{[4
]}

Noh, Hyun Ji ^{[5
]}

Wadhawan, Samir ^{[1
]}

Bai, Xiaodong ^{[2
]}

Hawes, Alicia ^{[2
]}

Krasheninina, Olga ^{[2
]}

Ulloa, Ricardo ^{[2
]}

Lopez, Alex E. ^{[2
]}

Smith, Erin N. ^{[4
]}

Waring, Jeffrey F. ^{[5
]}

Whelan, Christopher D. ^{[3
]}

Tsai, Ellen A. ^{[3
]}

Overton, John D. ^{[2
]}

Salerno, William J. ^{[2
]}

Jacob, Howard ^{[5
]}

Szalma, Sandor ^{[4
]}

Runz, Heiko ^{[3
]}

Hinkle, Gregory ^{[8
]}

Nioi, Paul ^{[8
]}

Petrovski, Slave ^{[6
]}

Miller, Melissa R. ^{[7
]}

Baras, Aris ^{[2
]}

Mitnaul, Lyndon J. ^{[2
]}

Reid, Jeffrey G. ^{[2
]}

机构：

[1] Bristol Myers Squibb, Princeton, NJ USA

[2] Regeneron Pharmaceut, Tarrytown, NY USA

[3] Biogen, Cambridge, MA USA

[4] Takeda Calif, San Diego, CA USA

[5] Abbvie, N Chicago, IL USA

[6] Astrazeneca Ctr Genom Res, Discovery Sci, BioPharmaceut R&D, Cambridge, England

[7] Pfizer, Cambridge, MA USA

[8] Alnylam Pharmaceut, Cambridge, MA USA

来源：

NATURE GENETICS | 2021年 / 53卷 / 07期

关键词：

GENOME-WIDE ASSOCIATION; DISEASES; TARGETS; VARIANT;

D O I：

10.1038/s41588-021-00885-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private-public partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that will complete the sequencing of exomes for all similar to 500,000 UKB participants. Here, we describe the early results from similar to 200,000 UKB participants and the features of this project that enabled its success. The biopharmaceutical industry has increasingly used human genetics to improve success in drug discovery. Recognizing the need for large-scale human genetics data, as well as the unique value of the data access and contribution terms of the UKB, the UKB-ESC was formed. As a result, exome data from 200,643 UKB enrollees are now available. These data include similar to 10 million exonic variants-a rich resource of rare coding variation that is particularly valuable for drug discovery. The UKB-ESC precompetitive collaboration has further strengthened academic and industry ties and has provided teams with an opportunity to interact with and learn from the wider research community.

引用

页码：942 / 948

页数：7

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