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Phenome-Wide Association Study (PheWAS)

Definition
AI-generated

PheWAS systematically tests a set of genetic variants (often trait-associated SNPs) against many phenotypes in a biobank or EHR-linked cohort, revealing pleiotropy and phenotypic profiles of alleles.

Topics
Post-GWAS
Related
Anatomical Therapeutic Chemical Code (ATC) False Discovery Rate (FDR) Genome-Wide Association Study (GWAS)

Why it matters in GWAS

It complements single-trait GWAS by mapping variant-to-phenotype matrices and can motivate phenotype definitions or uncover unexpected comorbidities.

Example usage

"The PheWAS for the BMI locus showed associations with knee osteoarthritis and sleep traits."

Anatomical Therapeutic Chemical Code (ATC) False Discovery Rate (FDR) Genome-Wide Association Study (GWAS) International Classification of Diseases Code (ICD) Horizontal Pleiotropy (MR) Horizontal Pleiotropy Multiple Testing Correction PheCode Phenome Phenomics Phenotype Pleiotropy Trait
Related-term network

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Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Denny JC, et al. (2013). Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol.
← Phenotypic heterogeneity Phosphorylation →

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