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Harmonizing variant classification for return of results in the All of Us Research Program.

Human mutation - 1 Aug 2022

Harrison Steven M, Austin-Tse Christina A, Kim Serra, Lebo Matthew, Leon Annette, Murdock David, Radhakrishnan Aparna, Shirts Brian H, Steeves Marcie, Venner Eric, Gibbs Richard A, Jarvik Gail P, Rehm Heidi L

Abstract excerpt

The All of Us Research Program (AoURP) is a historic effort to accelerate research and improve healthcare by generating and collating data from one million people in the United States. Participants will have the option to receive results from their genome analysis, including actionable findings in 59 gene-disorder pairs for which disorder-associated variants are recommended for return by the American College of...

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PMID: 34923710
DOI: 10.1002/humu.24317
PMCID: PMC9206690

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