Genomic data in the All of Us Research Program

Authors

All of Us Research Program Genomics Investigators

Language

English

Publication Date

3-1-2024

Journal

Nature

DOI

10.1038/s41586-023-06957-x

PMID

38374255

PMCID

PMC10937371

PubMedCentral® Posted Date

2-19-2024

PubMedCentral® Full Text Version

Post-print

Abstract

Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for the field of human genetics1–4. 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 health5,6. 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.

Keywords

Humans, Access to Information, Black People, Datasets as Topic, Electronic Health Records, Ethnicity, European People, Genetic Predisposition to Disease, Genetic Variation, Genetics, Medical, Genetics, Population, Genome, Human, Genomics, Longitudinal Studies, Minority Groups, Racial Groups, Reproducibility of Results, Research Personnel, Time Factors, Vulnerable Populations, Genomics, Sequencing, Databases, Genome-wide association studies, Genetic variation

Published Open-Access

yes

Recommended Citation

All of Us Research Program Genomics Investigators, "Genomic data in the All of Us Research Program" (2024). Faculty and Staff Publications. 2919.
https://digitalcommons.library.tmc.edu/baylor_docs/2919