Montreal Heart Institute, Montreal, QC H1T 1C8, Canada.
Université de Montréal Beaulieu-Saucier Pharmacogenomics Centre, Montreal, QC H1T 1C8, Canada.
Nucleic Acids Res. 2022 Jul 5;50(W1):W305-W311. doi: 10.1093/nar/gkac289.
Establishing the relationship between protein-coding genes and phenotypes has the potential to inform on the molecular etiology of diseases. Here, we describe ExPheWas (exphewas.ca), a gene-based phenome-wide association study browser and platform that enables the conduct of gene-based Mendelian randomization. The ExPheWas data repository includes sex-stratified and sex-combined gene-based association results from 26 616 genes with 1746 phenotypes measured in up to 413 133 individuals from the UK Biobank. Interactive visualizations are provided through a browser to facilitate data exploration supported by false discovery rate control, and it includes tools for enrichment analysis. The interactive Mendelian randomization module in ExPheWas allows the estimation of causal effects of a genetically predicted exposure on an outcome by using genetic variation in a single gene as the instrumental variable.
建立蛋白质编码基因与表型之间的关系有潜力为疾病的分子病因提供信息。在这里，我们描述了 ExPheWas（exphewas.ca），这是一个基于基因的全表型关联研究浏览器和平台，支持基于基因的孟德尔随机化。ExPheWas 数据存储库包括来自英国生物库中多达 413133 个人的 1746 种表型的按性别分层和按性别组合的基于基因的关联结果，涉及 26616 个基因。通过浏览器提供交互式可视化，以支持通过错误发现率控制进行数据探索，并包括富集分析工具。ExPheWas 中的交互式孟德尔随机化模块允许通过使用单个基因中的遗传变异作为工具变量来估计遗传预测暴露对结果的因果效应。
