Phenome-wide association studies | PheWAS

TOC

什么是Phenome-wide association studies?产生背景

PheWAS的基本原理,应用场景

PheWAS与GWAS的区别和联系

PheWAS实例


什么是Phenome-wide association studies?产生背景

More recently, phenome-wide association studies (PheWAS) have been used to interrogate with which phenotypes a given genetic variant may be associated (Denny et al., 2010).

PheWAS的基本原理,应用场景

Phenome-wide association studies (PheWAS) have been used to replicate known genetic associations and discover new phenotype associations for genetic variants.

PheWAS与GWAS的区别和联系

GWAS是给定phenotype,检验所有的variants。

PheWAS是给定variant,检验所有的phenotypes。

PheWAS实例

PheWAS plot for a SNP or gene can be created across GWAS in the database.

https://atlas.ctglab.nl/PheWAS

随便搜索一个基因或SNP:Sox10、rs13238909

会得到我们的基因或SNP与哪个trait最相关,需要非常大的数据库才能做这个分析。

学会了GWAS,理解PheWAS就毫无压力了。

参考:

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

原文地址:https://www.cnblogs.com/leezx/p/13358434.html