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Updated: Aug 11, 2025

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies
Richard J Packer1,2, Alex T Williams1, William Hennah3,4,5
1Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
Summary:
DeepPheWAS is an R package for phenome-wide association studies that creates clinically curated composite phenotypes and integrates quantitative phenotypes from primary care data, longitudinal trajectories of quantitative measures, disease progression and drug response phenotypes. Tools are provided for efficient analysis of association with any genetic input, under any genetic model, with optional sex-stratified analysis, and for developing novel phenotypes.
Availability And Implementation:
The DeepPheWAS R package is freely available under GNU general public licence v3.0 from at https://github.com/Richard-Packer/DeepPheWAS.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
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