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

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 ~500,000 UKB participants. Here, we describe the early results from ~200,000 UKB participants an...

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Published in:Nature genetics Vol. 53; no. 7; pp. 942 - 948
Main Authors: Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., Reid, Jeffrey G.
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.07.2021
Nature Publishing Group
Subjects:
631/208/212
692/308/2056
Agriculture
Alliances and partnerships
Animal Genetics and Genomics
Biobanks
Biological Specimen Banks
Biomarkers
Biomedical and Life Sciences
Biomedicine
Cancer Research
Clinical trials
Collaboration
Consortia
Disease
Drug discovery
Drug Discovery - methods
Gene Function
Genetic research
Genetics
Genomes
Genomics
Genomics - methods
Human Genetics
Humans
Nonprofit organizations
Perspective
Pharmaceutical industry
Pharmaceuticals
Proteins
Public-private sector cooperation
R&D
Rare resources
Research & development
Severe acute respiratory syndrome
Severe acute respiratory syndrome coronavirus 2
Success
United Kingdom
Whole Exome Sequencing
United Kingdom
United Kingdom > UK
ISSN:1061-4036, 1546-1718, 1546-1718
Online Access:Get full text
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Summary: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 ~500,000 UKB participants. Here, we describe the early results from ~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 ~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. The UK Biobank Exome Sequencing Consortium aims to sequence all the exomes of approximately 500,000 UK Biobank participants. This Perspective describes the results from approximately 200,000 exomes and discusses the lessons learned from this UK Biobank–biopharmaceutical company collaboration.
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ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/s41588-021-00885-0