《生命科学》 2015, 27(7): 960-967

新一代测序技术在罕见病致病基因研究中的应用

孟宪欣，肖华胜*

(上海伯豪生物技术有限公司，上海 201203)

摘　要：摘　要：随着人类基因组计划的完成和DNA 测序技术的快速进步，测序成本大幅降低，速度越来越快。因而，近几年测序技术被广泛地应用于生命科学研究和疾病与健康的检测。现就对新一代测序技术及其在罕见病致病基因研究中的策略及应用进行综述。

Application of next-generation sequencing in rare diseases research

MENG Xian-Xin， XIAO Hua-Sheng*

(Shanghai Biotechnology Corporation， Shanghai 201203， China)

Abstract: Abstract: With the completion of the human genome project and the drop of DNA sequencing cost， next generation sequencing (NGS) technology has been widely used to search for rare disease variants by sequencing the entire protein-coding sequence， known as the exome， or even the entire human genome. In this review， we summarize the technical characteristics and the performance of current NGS platforms. Then we conclude the research strategies and applications for identifying rare disease variants with NGS.