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Article

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

Bioinformatics (Oxford, England) - 1 May 2010

Denny Joshua C, Ritchie Marylyn D, Basford Melissa A, Pulley Jill M, Bastarache Lisa, Brown-Gentry Kristin, Wang Deede, Masys Dan R, Roden Dan M, Crawford Dana C

Abstract excerpt

MOTIVATION: Emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association scans (PheWAS) for disease-gene associations. We propose a novel method to scan phenomic data for genetic associations using International Classification of Disease (ICD9) billing codes, which are available in most EMR systems. We have developed a code translation...

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Identifiers

PMID: 20335276
DOI: 10.1093/bioinformatics/btq126
PMCID: PMC2859132

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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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