中文摘要：

最近,随着测序成本的不断降低,数据分析策略的不断提升,全基因组测序（Whole-genome sequencing,WGS）已经在癌症、孟德尔遗传病、复杂疾病的致病基因检测中得到了一定运用,并逐步走向了临床诊断.全基因组测序不但可以检测编码区和非编码区的点突变（Single nucleotide variants,SNVs）和插入缺失（Insertions or deletions,InDels）,还可以在全基因组范围内检测拷贝数变异（Copy number variation,CNV）以及结构变异（Structure variation,SV）.文章详细地介绍了全基因组测序的标准生物信息分析流程与方法,及其在疾病研究、临床诊断中的应用,并对全基因组测序在医学遗传学中的应用与研究进展以及数据分析方面所面临的挑战进行了概述.

英文摘要：

Recently, with the decreasing cost of DNA sequencing and the improving strategy of data analysis, whole-genome sequencing （WGS） has been used for the detection of causal genes in cancer, Mendelian diseases and other complex diseases, and has gradually become applicable for clinical diagnosis. WGS enables not only the identi- fication of single nucleotide variants （SNVs）, insertions and deletions （InDels） in both coding and non-coding re- gions, but also the detection of copy number variations （CNVs） and structural variations （SVs） on a genome scale. In this review, we present a detailed report of the standard workflow and methods of bioinformatics analysis in WGS, and its application in disease research and clinical diagnoses. In general, this review aims to provide an overview of WGS in its application, progress and challenge on medical genetics.