2-AIN-506, 2-AIN-252: Seminar in Bioinformatics (2), (4)
Summer 2024

Genomic data in the All of Us Research Program. Nature, 2024.

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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.