The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.

ABSTRACT: Disparities in data underlying clinical genomic interpretation is an acknowledged problem, but there is a paucity of data demonstrating it. The All of Us Research Program is collecting data including whole-genome sequences, health records, and surveys for at least a million participants with diverse ancestry and access to healthcare, representing one of the largest biomedical research repositories of its kind. Here, we examine pathogenic and likely pathogenic variants that were identified in the All of Us cohort. The European ancestry subgroup showed the highest overall rate of pathogenic variation, with 2.26% of participants having a pathogenic variant. Other ancestry groups had lower rates of pathogenic variation, including 1.62% for the African ancestry group and 1.32% in the Latino/Adm

SUBMITTER: Venner E 

PROVIDER: S-EPMC10876563 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature