Article

EA-PheWAS: Integrating Phenotype Embeddings with PheWAS for Enhanced Gene-Phenotype Discovery

2026-04-22

Abstract excerpt

Phenome-wide association studies (PheWAS) enable systematic exploration of relationships between genetic variants and clinical phenotypes derived from electronic health records (EHRs). Conventional regression-based PheWAS treats phenotypes separately and relies on binary phenotype representations, which limits statistical power for rare variants and rare phenotypes and reduces the ability to detect associations wi...

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Literature Corpus work: cf7e9f10-3e68-5756-9f0b-238524fc174a
DOI: 10.64898/2026.04.21.720031

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