| Literature DB >> 34183854 |
Joseph D Szustakowski1, Suganthi Balasubramanian2, Erika Kvikstad1, Shareef Khalid2, Paola G Bronson3, Ariella Sasson1, Emily Wong4, Daren Liu2, J Wade Davis5, Carolina Haefliger6, A Katrina Loomis7, Rajesh Mikkilineni4, Hyun Ji Noh5, Samir Wadhawan1, Xiaodong Bai2, Alicia Hawes2, Olga Krasheninina2, Ricardo Ulloa2, Alex E Lopez2, Erin N Smith4, Jeffrey F Waring5, Christopher D Whelan3, Ellen A Tsai3, John D Overton2, William J Salerno2, Howard Jacob5, Sandor Szalma4, Heiko Runz3, Gregory Hinkle8, Paul Nioi8, Slavé Petrovski6, Melissa R Miller7, Aris Baras2, Lyndon J Mitnaul2, Jeffrey G Reid9.
Abstract
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.Entities:
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Year: 2021 PMID: 34183854 DOI: 10.1038/s41588-021-00885-0
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330