基因结构变异检测方法综述

在人类基因组中结构变异(SVs),拷贝数变化(CNVs),单核苷酸多态性(SNP)是非常普遍的,而且和人类健康与疾病密切相关,因此检测这些结构变异对于人类生命健康非常重要。基于第二代基因测序平台,目前已经有很多结构变异检测算法,这些算法主要分为五大类:微阵列方法、读对方法、读深方法、分裂读取方法、序列组装方法。本文系统地阐述了这五类方法的基本原理、优缺点以及使用范围,并简要介绍了每一种方法的经典检测算法及应用范围、检测性能等,并对未来检测算法的研究提出了展望。

Review On Algorithms Of Detecting Genome Structural Variants

Structural variants,copy number variants and single-nucleotide polymorphism are extensive present in the human genome and closely related to the disease and health of human,so it is very important to discover these variances for the human’s health.Currently,there are many structural variants detecting methods based on second generation genome sequencing platform,including micro arrays,read-pair technology,read-depth methods,split-read methods and sequence assembly.In this paper,we systematically elaborate their basic principles,advantages,disadvantages and applications respectively,meanwhile,we briefly introduce the detecting performances and applications of classical detecting algorithms based on each method and put forward some prospects of detecting algorithms in future.