基于高通量测序数据的结构变异检测方法的研究

Research of the Method of Detecting Genome Structure Variation based on High-throughput Sequencing Data

随着高通量测序数据技术的发展,人类全基因组的测序成本在不断降低,测序速度也有了较为显著地提升。运用生物信息学的手段处理这些海量基因组数据的需求也越来越迫切,而对于基因组结构变异的检测更是这个领域的核心内容。由高通量测序数据特征入手,介绍了当前主流的生物信息学结构变异检测方法,并阐述了有关基因组结构变异检测结果的评测指标和手段,最后,结合个人基因组的发展,对于该领域未来的发展提出了改进建议。

With the development of the High -throughput Sequencing （HTS） technologies, the sequencing speed of the whole genome has a significant boost with the lower cost. The demand of dealing with the huge scale genome data using bioinformatics method is increasing, and detecting the genome structure variation becomes the core issue in the bioinformatics field. This paper introduces the characteristics of the Next - Generation sequencing data, has a detail explain of the widelyused method to detect genome structure variation using computational method, gives out a few parameters and method to evaluate the result, at last, provides some suggestions about the future method combined with the development of the personal genomies.