Shao Qianzhi, Jiang Yi, Wu Jinyu
Yi Chuan. 2014 Nov;36(11):1087-98.
Recently, with the decreasing cost of DNA sequencing and improving strategy of data analysis, whole-genome sequencing (WGS) has been used for detection of pathogenic genes in cancer, Mendelian diseases and other complex diseases and gradually become applicable for clinical diagnosis. WGS enables not only the identification of single nucleotide variants (SNVs), insertions and deletions (InDels) both in coding region and non-coding regions, but also the detection of copy number variations (CNVs) and structural variations (SVs) on a genome scale. In this review, we discuss the canonical workflow and methods of bioinformatics analysis in WGS, and its application in disease research and clinical diagnosis. In addition, this review provides an overview in application, progress and challenge on WGS in medical genetics.
近年来，随着DNA测序成本的降低以及数据分析策略的改进，全基因组测序（WGS）已被用于检测癌症、孟德尔疾病和其他复杂疾病中的致病基因，并逐渐适用于临床诊断。WGS不仅能够识别编码区和非编码区的单核苷酸变异（SNV）、插入和缺失（InDel），还能够在基因组规模上检测拷贝数变异（CNV）和结构变异（SV）。在本综述中，我们讨论了WGS中生物信息学分析的标准流程和方法，及其在疾病研究和临床诊断中的应用。此外，本综述还概述了WGS在医学遗传学中的应用、进展和挑战。
