Genomic data in the All of Us Research Program
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Author
Bick, Alexander G.
Metcalf, Ginger A.
Mayo, Kelsey R.
Lichtenstein, Lee
Rura, Shimon
Carroll, Robert J.
Musick, Anjene
Linder, Jodell E.
Jordan, I. King
Nagar, Shashwat Deepali
Sharma, Shivam
Meller, Robert
Basford, Melissa
Boerwinkle, Eric
Cicek, Mine S.
Doheny, Kimberly F.
Eichler, Evan E.
Gabriel, Stacey
Gibbs, Richard A.
Glazer, David
Harris, Paul A.
Jarvik, Gail P.
Philippakis, Anthony
Rehm, Heidi L.
Roden, Dan M.
Thibodeau, Stephen N.
Topper, Scott
Blegen, Ashley L.
Wirkus, Samantha J.
Wagner, Victoria A.
Meyer, Jeffrey G.
Cicek, Mine S.
Muzny, Donna M.
Venner, Eric
Mawhinney, Michelle Z.
Griffith, Sean M. L.
Hsu, Elvin
Ling, Hua
Adams, Marcia K.
Walker, Kimberly
Hu, Jianhong
Doddapaneni, Harsha
Kovar, Christie L.
Murugan, Mullai
Dugan, Shannon
Khan, Ziad
Boerwinkle, Eric
Lennon, Niall J.
Austin-Tse, Christina
Banks, Eric
Gatzen, Michael
Gupta, Namrata
Henricks, Emma
Larsson, Katie
McDonough, Sheli
Harrison, Steven M.
Kachulis, Christopher
Lebo, Matthew S.
Neben, Cynthia L.
Steeves, Marcie
Zhou, Alicia Y.
Smith, Joshua D.
Frazar, Christian D.
Davis, Colleen P.
Patterson, Karynne E.
Wheeler, Marsha M.
McGee, Sean
Lockwood, Christina M.
Shirts, Brian H.
Pritchard, Colin C.
Murray, Mitzi L.
Vasta, Valeria
Leistritz, Dru
Richardson, Matthew A.
Buchan, Jillian G.
Radhakrishnan, Aparna
Krumm, Niklas
Ehmen, Brenna W.
Schwartz, Sophie
Aster, M. Morgan T.
Cibulskis, Kristian
Haessly, Andrea
Asch, Rebecca
Cremer, Aurora
Degatano, Kylee
Shergill, Akum
Gauthier, Laura D.
Lee, Samuel K.
Hatcher, Aaron
Grant, George B.
Brandt, Genevieve R.
Covarrubias, Miguel
Banks, Eric
Able, Ashley
Green, Ashley E.
Carroll, Robert J.
Zhang, Jennifer
Condon, Henry R.
Wang, Yuanyuan
Dillon, Moira K.
Albach, C. H.
Baalawi, Wail
Choi, Seung Hoan
Wang, Xin
Rosenthal, Elisabeth A.
Ramirez, Andrea H.
Lim, Sokny
Nambiar, Siddhartha
Ozenberger, Bradley
Wise, Anastasia L.
Lunt, Chris
Ginsburg, Geoffrey S.
Denny, Joshua C.
Published Version
https://doi.org/10.1038/s41586-023-06957-xMetadata
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The All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature (2024). https://doi.org/10.1038/s41586-023-06957-xAbstract
Comprehensively mapping the genetic basis of human disease across diverse individuals is a longstanding goal for the field of human genetics.1-4 The All of Us Research Program is a longitudinal cohort aiming to enroll a diverse group of at least one million individuals across the United States to accelerate biomedical research and improve human health.5,6 Here we describe the program’s genomics data release of 245,388 clinical grade genome sequences. This resource is unique in its diversity as 77% of participants are from communities historically underrepresented in biomedical research and 46% are individuals from underrepresented racial and ethnic minorities. All of Us identified >1 billion genetic variants, including >151 million previously unreported genetic variants, >1.8 million of which had coding consequences. Leveraging linkage between genomic data and the longitudinal electronic health record, we evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across both European and African ancestry participants. Summary level data are publicly available, and individual-level data can be accessed by researchers through the All of Us Researcher Workbench via a unique data passport model with a median time from initial researcher registration to data access of 29 hours. We anticipate that this diverse dataset will advance the promise of genomic medicine for all.Terms of Use
This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#PassThruCitable link to this page
https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37377782
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