Genomic data in the All of Us Research Program

Abstract

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.