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Article

PolyGenie: a reproducible Nextflow pipeline for phenome-wide association studies using polygenic risk scores.

NAR genomics and bioinformatics - 1 Jun 2026

Farré Xavier, Gasco Mireia, Blay Natalia, de Cid Rafael

Abstract excerpt

Phenome-wide association studies (PheWAS) using polygenic risk scores (PRS) offer a powerful framework for exploring the shared genetic architecture of complex traits across diverse phenotypic domains. However, no standardized, portable pipeline exists to facilitate their systematic execution and visualization in arbitrary population cohorts. We present PolyGenie, an open-source Nextflow pipeline that takes...

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PMID: 42272542
DOI: 10.1093/nargab/lqag056
PMCID: PMC13247587

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