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Article

Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes.

AMIA ... Annual Symposium proceedings. AMIA Symposium - 1 Jan 2015

Leader Joseph B, Pendergrass Sarah A, Verma Anurag, Carey David J, Hartzel Dustin N, Ritchie Marylyn D, Kirchner H Lester

Abstract excerpt

Phenome-Wide Association Studies (PheWAS) comprehensively investigate the association between genetic variation and a wide array of outcome traits. Electronic health record (EHR) based PheWAS uses various abstractions of International Classification of Diseases, Ninth Revision (ICD-9) codes to identify case/control status for diagnoses that are used as the phenotypic variables. However, there have not been...

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PMID: 26958218
PMCID: PMC4765620

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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