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

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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