面向下一代测序技术的结构变异检测算法综述  

Survey on structural variants detection algorithms for next generation sequencing technology

作　　者：林勇[1] 

机构地区：[1]上海理工大学系统生物医学研究中心,上海200090

出　　处：《计算机应用研究》2014年第2期328-332,共5页Application Research of Computers

基　　金：国家自然科学基金资助项目(31100902;31301092);上海市重点学科建设基金资助项目(S30501)

摘　　要：检测基因组中的结构变异对遗传学研究具有重要意义,基于测序技术的结构变异检测将成为主流发展方向。全面总结了现有面向下一代测序技术的结构变异检测算法:配对末端匹配法、读深度法、分裂读数据法和序列拼接法,分析各算法核心思想及其特点,给出其适用范围和优缺点,并探讨了检测算法存在的问题和发展趋势。Abstract; Detection of genomic structural variants is important for genetic research. Detection of structural variants based on next generation sequencing technology will become the mainstream direction. This paper gave a comprehensive survey of avail- able computational structural variants detection algorithms, including paired-end mapping, read-depth method, split read method and sequence assembly method, analyzed their core idea and characteristics, described the applicable scopes, advan- tages and disadvantages of different algorithms. And finally it discussed the current problems to be solved and the future direc- tions.

关 键 词：下一代测序技术 结构变异 拷贝数变异 

分 类 号：TP391[自动化与计算机技术—计算机应用技术] TP301.6[自动化与计算机技术—计算机科学与技术]