外显子测序技术在人类疾病中的应用研究

Application of whole exome sequencing technology in human diseases

随着分子遗传学技术的迅速发展,因大部分遗传性疾病的致病性基因突变集中于约1%的外显子区,故外显子测序技术在医学研究领域的应用越来越广泛,其被广泛应用于肿瘤等人类复杂疾病、单基因遗传病及动植物领域的研究。本文旨在总结外显子测序技术在人类疾病中的应用研究。

With the rapid development of molecular genetics technology,the pathogenic gene mutation of most hereditary diseases is concentrated in about 1%of the exome region,so the application of exome sequencing technology in medical research is more and more extensive.It is widely used in the study of human complex diseases such as tumors and monogenic genetic diseases,as well as in the field of animals and plants.This paper aims to summarize the application of exome sequencing technology in human diseases.