Measuring the accuracy of electronic health record-based phenotyping in the All of Us Research Program to optimize statistical power for genetic association testing.
Accurate phenotyping is an essential task for researchers utilizing electronic health record (EHR)-linked biobank programs like the All of Us Research Program to study human genetics. However, little guidance is available on how to select an EHR-based phenotyping procedure that maximizes downstream statistical power. This study aims to estimate accuracy of three phenotype definitions of ovarian, female breast, and colorectal cancers in All of Us (v7 release) and determine which [...]
Author(s): Baierl, John, Hsiao, Yi-Wen, Jones, Michelle R, Peng, Pei-Chen, Pharoah, Paul D P
DOI: 10.1093/jamia/ocaf234