摘要
拷贝数变异与多种复杂疾病密切相关,具有重要的研究意义。本文利用基于测序数据的拷贝数变异检测过程中丢弃的不匹配读数据,采用裂读法和单端匹配法对已有检测算法的结果进行过滤优化。模拟和实验数据检测结果表明,本文方法优化后能得到了更高的检测性能。
Copy number variation is closely related to many complex diseases and has important research significance. In this paper, the mismatched read data discarded in the process of copy number variation detection based on sequencing data were used to filter and optimize the results of existing detection algorithms by split reading method and one end matching method. The detection results of simulation and experimental data showed that the proposed method can achieve higher detection performance after optimization.
作者
林勇
NGUVE GILEAD NGUVE
LIN Yong;NGUVE GILEAD NGUVE(School of Medical Instrument and Food Engineering, University of Shanghai for Science and Technology, Shanghai 200090, China)
出处
《软件》
2019年第3期13-17,共5页
Software
基金
国家自然科学基金项目(31301092)
关键词
拷贝数变异检测
算法优化
裂读法
配对末端读数
Copy number variant detection
Algorithm optimization
Split read
Paired-end read
