基于高通量测序技术的基因组结构变异检测算法

High-throughput based algorithm of detecting genome structural variation

基因组结构变异的检测是生物信息学的重要方向之一。本文分别对基于高通量测序技术的双末端映射方法、映射分布方法、分裂片段方法和序列拼接方法等检测技术的四种算法进行详细的解读和说明,阐述了以上四种方法两两结合的检测算法,并分析了各种检测方法的性能和适用的条件,说明混合结合的方法将会成为未来发展的方向。

Structural variation detection is one of the most important directions of bioiifformatics research. In this paper, we firstly illustrated four sequencing-based approaches in detail, read-pair, read-depth, split-read and assembly.Then we introduced algorithms based on pair wise combination of those four approaches, and analyzed their performance and conditions. Finally, we argued that the combined approaches will be the direction of the future.