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

Richard J. Packer,Alex T. 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 Raymond Bratty,Louise Wain,Frank Dudbridge,Martin D. Tobin

BIOINFORMATICS(2023)

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摘要
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.
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关键词
phenotype generation,association analysis,phenome-wide
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