| 拷贝数变异检测算法优化研究 |
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| 引用本文： | 林勇,NGUVE GILEAD NGUVE. 拷贝数变异检测算法优化研究[J]. 软件, 2019, 0(3): 13-17 |
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| 作者姓名： | 林勇 NGUVE GILEAD NGUVE |
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| 作者单位： | 1.上海理工大学医疗器械与食品学院 |
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| 基金项目： | 国家自然科学基金项目(31301092) |
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| 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。
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| 关 键 词： | 拷贝数变异检测 算法优化 裂读法 配对末端读数 |
Optimization Study of Copy Number Variants Detection Algorithm |
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| Affiliation: | (School of Medical Instrument and Food Engineering, University of Shanghai for Science and Technology, Shanghai 200090, China) |
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| Abstract: | 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. |
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| Keywords: | Copy number variant detection Algorithm optimization Split read Paired-end read |
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