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DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies

Richard Packer, Alex Williams, William Hennah, Micaela T Eisenberg, Nick Shrine, Katherine A. Fawcett, Willow Pearson, Anna L. Guyatt, Ahmed Edris, Edward J. Hollox, Mikko Marttila, Balasubramanya S Rao, John Bratty, Louise V. Wain, Frank Dudbridge, Martin D. Tobin

2023Bioinformatics23 citationsDOIOpen Access PDF

Abstract

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.

Topics & Concepts

PhenomePhenotypeR packageAssociation (psychology)Genetic associationComputational biologyBiologyBioinformaticsComputer scienceGeneticsGenotypeGenePsychologySingle-nucleotide polymorphismPsychotherapistComputational scienceGenetic Associations and EpidemiologyGenomics and Rare DiseasesAdipokines, Inflammation, and Metabolic Diseases
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