Measuring the accuracy of electronic health record (EHR)-based phenotyping in the All of Us Research Program to optimize statistical power for genetic association testing
John Baierl, Yi-Wen Hsiao, Michelle R. Jones, Pei-Chen Peng, Paul D. P. Pharoah
The paper evaluates EHR-based phenotyping accuracy in the All of Us Research Program to optimize statistical power for genetic association testing, finding disparities in accuracy across racial groups.
Journal of the American Medical Informatics Association · Jan 3, 2026Peer-reviewedGenetic & Genomic Medicine