Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research.

ABSTRACT: The All of Us Research Program (All of Us) seeks to accelerate biomedical research and address the underrepresentation of minorities by recruiting over 1 million participants across the United States. A key question is how self-identification with discrete, predefined race and ethnicity categories compares to genetic variation at continental and subcontinental levels. To contextualize the genetic variation in All of Us, we analyzed ∼2 million common variants from 230,016 unrelated whole genomes using classical population genetics methods alongside reference panels such as the 1000 Genomes Project, Human Genome Diversity Project, and Simons Genome Diversity Project. Our analysis reveals that participants within self-identified race and ethnicity groups exhibit gradients of genetic variation

SUBMITTER: Gouveia MH 

PROVIDER: S-EPMC12256905 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature