中文摘要：

外显子组测序是针对基因组中的蛋白质编码区,靶向富集外显子区域测序,以发现疾病相关遗传变异的技术。该技术近年越来越多地应用于发现人类基因组低频变异、鉴定单基因遗传病致病基因和肿瘤等复杂疾病易感基因研究,成为人类疾病相关变异研究的重要工具。综述了外显子组测序技术的基本原理及其在人类疾病相关基因研究中的应用。

英文摘要：

Whole exome sequencing （WES）, which focuses on the protein coding region of the whole genome, aims to identify diseases related coding variants through sequencing the enriched exons of the genome. In recent years, WES is increasingly applied in several research fields, such as to identify novel low frequency variants, find causal genes of single gene inheritance diseases, in research of complex diseases like cancer. It has become one of the most important strategies in identifying diseases associated genes. Here we reviewed the basic technical principal of WES and its application in research of human diseases related genes.