Article
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Communications biology - 19 Feb 2024
Venner Eric, Patterson Karynne, Kalra Divya, Wheeler Marsha M, Chen Yi-Ju, Kalla Sara E, Yuan Bo, Karnes Jason H, Walker Kimberly, Smith Joshua D, McGee Sean, Radhakrishnan Aparna, Haddad Andrew, Empey Philip E, Wang Qiaoyan, Lichtenstein Lee, Toledo Diana, Jarvik Gail, Musick Anjene, Gibbs Richard A
Abstract excerpt
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....
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