基于聚类算法的结构变异及其形成机制识别-计算机应用研究.pdfVIP

优先出版 计 算 机 应 用 研 究 第33 卷 基于聚类算法的结构变异及其形成机制识别* 王丽莉，艾冬梅* (北京科技大学 数理学院，北京，100083) 摘 要：在人类基因组上存在着涉及到不同序列长度的结构变异，这些结构变异对癌症的发生和发展产生了显著的影响。 随着新一代测序技术的发展以及测序成本的降低使得在全基因组水平研究结构变异变得可能。本文基于聚类算法对千人 基因组3 个不同地区的样本以及CGHub 数据库中结直肠癌样本进行了结构变异识别，并基于间断点处的序列同源性对 结构变异的形成机制进行了分析。利用方差分析及非参数检验分析了结构变异和癌症的关系以及结构变异与地域之间的 关系。最后，探讨了该领域未来的发展趋势。 关键词：全基因组测序；聚类算法；基因组结构变异；形成机制 中图分类号：TP301.6 Structural variation and its mechanism detection based on clustering algorithm Wang Lili, Ai Dongmei* (School of Mathematics Physics , University of Science Technology Beijing , Beijing 100083, China ) Abstract: There are a number of structural variations of different lengths in the human genome, which has a significant impact on the occurrence of cancer. With the development of new generation high-throughput sequencing technology and the falling cost of sequencing make it possible to study structural variation at whole genome level. Samples from three different regions of The 1000 Genomes and colorectal cancer samples from the CGHub database were analyzed based on the clustering algorithm. Mechanisms of the structural variation were analyzed according to the sequence homology at the breakpoints . Relationship between structural variation and cancer, as well as the relationship between structural variation and regional factors were analyzed by variance analysis and non-parameter tests. At the end of this paper, the future development in this research area is pointed out. Key Words: whole genome sequencing; clustering algorithm;genome structural variation; mechanism of structural variatio