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

2021; Nature Portfolio; Volume: 53; Issue: 7 Linguagem: Inglês

10.1038/s41588-021-00885-0

1546-1718

Joseph D. Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, Shareef Khalid, Paola G. Bronson, Ariella Sasson, Emily H. M. Wong, Daren Liu, J. Wade Davis, Carolina Haefliger, A. Katrina Loomis, Rajesh Mikkilineni, Hyun Ji Noh, Samir Wadhawan, Xiaodong Bai, Alicia Hawes, Olga Krasheninina, Ricardo H. Ulloa, Alex E. Lopez, Erin N. Smith, Jeffrey F. Waring, Christopher D. Whelan, Ellen Tsai, John D. Overton, William Salerno, Howard J. Jacob, Sándor Szalma, Heiko Runz, Gregory Hinkle, Paul Nioi, Slavé Petrovski, Melissa Miller, Aris Baras, Lyndon J. Mitnaul, Jeffrey G. Reid, Oleg Moiseyenko, Carlos Garcia Rios, Saurabh Saha, Gonçalo R. Abecasis, Nilanjana Banerjee, Christina Beechert, Boris Boutkov, Michael Cantor, Giovanni Coppola, Aris N. Economides, Gisu Eom, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Lukas Habegger, Marcus B. Jones, Rouel Lanche, Michael Lattari, Michelle G. LeBlanc, Dadong Li, Luca A. Lotta, Kia Manoochehri, Adam J. Mansfield, Evan K. Maxwell, Jason Mighty, Mrunali Nafde, Sean O’Keeffe, Max Orelus, Maria Sotiropoulos Padilla, Razvan Panea, Tommy Polanco, Manasi Pradhan, Ayesha Rasool, Thomas D. Schleicher, Deepika Sharma, Alan R. Shuldiner, Jeffrey Staples, Cristopher V. Van Hout, Louis Widom, Sarah E. Wolf, Sally John, Chia‐Yen Chen, David Sexton, Varant Kupelian, Eric Marshall, T. Swan, Susan Eaton, Jimmy Z. Liu, Stephanie Loomis, Megan E. Jensen, Saranya Duraisamy, Jason Tetrault, David Merberg, Sunita Badola, Mark Reppell, Jason Grundstad, Xiuwen Zheng, Aimée M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Caroline A. Austin, Ruth March, Menelas N. Pangalos, Adam Platt, Mike Snowden, Athena Matakidou, Sebastian Wasilewski, Quanli Wang, Sri V. V. Deevi, Keren Carss, Katherine R. Smith, Morten Søgaard, Xinli Hu, Xing Chen, Ye Zhan,

Cancer Genomics and Diagnostics

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.