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DeepPheWAS：用于表型生成和表型全基因组关联研究关联分析的 R 包。

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

机构信息

Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.

Leicester National Institute of Health and Care Research Biomedical Research Centre, Glenfield Hospital, Leicester LE5 4PW, UK.

出版信息

Bioinformatics. 2023 Apr 3;39(4). doi: 10.1093/bioinformatics/btad073.

DOI:10.1093/bioinformatics/btad073
PMID:36744935
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10070035/
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.

摘要

摘要

DeepPheWAS 是一个用于全基因组关联研究的 R 包，它创建了经过临床整理的综合表型，并整合了来自初级保健数据的定量表型、定量测量的纵向轨迹、疾病进展和药物反应表型。该工具提供了与任何遗传输入、任何遗传模型、可选的性别分层分析以及开发新表型的关联的有效分析。

可用性和实现

DeepPheWAS R 包根据 GNU 通用公共许可证 v3.0 版免费提供，可在 https://github.com/Richard-Packer/DeepPheWAS 上获取。

补充信息

补充数据可在“Bioinformatics”在线获取。

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