Journal Article

Genomic data in the All of Us Research Program

Rehm, Heidi L., Meller, Robert, Linder, Jodell E., Cremer, Aurora, Carroll, Robert J., Muzny, Donna M., Wheeler, Marsha M., Bick, Alexander G., Wagner, Victoria A., Lebo, Matthew S., Dugan, Shannon, Basford, Melissa, Pritchard, Colin C., Brandt, Genevieve R., Albach, C. H., Gibbs, Richard A., Gatzen, Michael, Rura, Shimon, Blegen, Ashley L., Austin-Tse, Christina, Lee, Samuel K., Harris, Paul A., Cibulskis, Kristian, Smith, Joshua D., Doheny, Kimberly F., Hatcher, Aaron, Wirkus, Samantha J., Jordan, I. King, Zhou, Alicia Y., Gauthier, Laura D., Ramirez, Andrea H., Adams, Marcia K., Thibodeau, Stephen N., Metcalf, Ginger A., Davis, Colleen P., Roden, Dan M., McDonough, Sheli, Boerwinkle, Eric, Ling, Hua, McGee, Sean, Nagar, Shashwat Deepali, Shergill, Akum, Richardson, Matthew A., Covarrubias, Miguel, Topper, Scott, Murugan, Mullai, Harrison, Steven M., Vasta, Valeria, Hsu, Elvin, Lennon, Niall J., Meyer, Jeffrey G., Able, Ashley, Walker, Kimberly, Sharma, Shivam, Dillon, Moira K., Ginsburg, Geoffrey S., Shirts, Brian H., Lunt, Chris, Lockwood, Christina M., Khan, Ziad, Kachulis, Christopher, Wang, Xin, Cice

2024

Overview

Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for the field of human genetics 1 – 4 . The All of Us Research Program is a longitudinal cohort study aiming to enrol a diverse group of at least one million individuals across the USA to accelerate biomedical research and improve human health 5 , 6 . Here we describe the programme’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 that are historically under-represented in biomedical research and 46% are individuals from under-represented racial and ethnic minorities. All of Us identified more than 1 billion genetic variants, including more than 275 million previously unreported genetic variants, more than 3.9 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 participants of European ancestry and participants of African ancestry. Summary-level data are publicly available, and individual-level data can be accessed by researchers through the All of Us Researcher Workbench using 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. A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.

• Publisher: Nature Publishing Group UK,Nature Publishing Group
• Subject: 45/43 / 631/114/129 / 631/181/457/649 / 631/208/205/2138 / 631/208/212 / 631/208/514 / Access to Information / Biobanks / Biomedical research / Black People - genetics / Datasets / Datasets as Topic / Disease / Electronic Health Records / Electronic medical records / Ethnic factors / Ethnicity - genetics / European People - genetics / Gene mapping / Gene sequencing / Genetic disorders / Genetic diversity / Genetic Predisposition to Disease - genetics / Genetic testing / Genetic variance / Genetic Variation - genetics / Genetics, Medical / Genetics, Population / Genome, Human - genetics / Genomes / Genomics / Humanities and Social Sciences / Humans / Longitudinal Studies / Medical research / Minority & ethnic groups / Minority Groups / multidisciplinary / Racial Groups - genetics / Reproducibility of Results / Research Personnel / Science / Science (multidisciplinary) / Time Factors / Uniqueness / Vulnerable Populations