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Article

Measuring the accuracy of electronic health record-based phenotyping in the All of Us Research Program to optimize statistical power for genetic association testing.

Journal of the American Medical Informatics Association : JAMIA - 1 Mar 2026

Baierl John, Hsiao Yi-Wen, Jones Michelle R, Peng Pei-Chen, Pharoah Paul D P

Abstract excerpt

OBJECTIVE: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41528460
DOI: 10.1093/jamia/ocaf234
PMCID: PMC12981652

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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