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Article

PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.

Journal of the American Medical Informatics Association : JAMIA - 1 Oct 2018

Sinnott Jennifer A, Cai Fiona, Yu Sheng, Hejblum Boris P, Hong Chuan, Kohane Isaac S, Liao Katherine P

Abstract excerpt

Objective: Standard approaches for large scale phenotypic screens using electronic health record (EHR) data apply thresholds, such as ≥2 diagnosis codes, to define subjects as having a phenotype. However, the variation in the accuracy of diagnosis codes can impair the power of such screens. Our objective was to develop and evaluate an approach which converts diagnosis codes into a probability of a phenotype...

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Identifiers

PMID: 29788308
DOI: 10.1093/jamia/ocy056
PMCID: PMC6915826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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