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

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.