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Phenome

Definition
AI-generated

The phenome is the complete set of observable traits, disease diagnoses, laboratory values, and other phenotypic measurements that can be ascribed to an individual or cohort—often spanning electronic health records, biobank fields, and standardized ontologies.

Topics
Epidemiology
Related
Cohort Phenome-Wide Association Study (PheWAS) Phenomics

Why it matters in GWAS

High-dimensional phenome data underpin PheWAS and multi-trait genetic analyses, revealing pleiotropy and motivating phenotype harmonization across studies.

Example usage

"We harmonized ICD-coded diagnoses into a common phenome schema before running phenome-wide scans."

Cohort Phenome-Wide Association Study (PheWAS) Phenomics Phenotype Trait
Related-term network

Click any node to open that term page.

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 designs in electronic medical records. Am J Hum Genet.
← PheCode Phenomics →

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