Technology of Information Security
|
2169-2174

Inversion variation detection method based on long reads and realignment

Luo Junwei
Du Caiyun
Huo Zhanqiang
College of Computer Science & Technology, Henan Polytechnic University, Jiaozuo Henan 454003, China

Abstract

Structural variation detection is an important task of genome big data analysis. Inversion is a common structural variation and is often associated with a variety of serious diseases. Therefore, obtaining the accurate position of inversion is an important task. This paper proposed a method for detecting inversions variation based on long reads and realignment. This method firstly extracted the clipped sequence of each long read, and aligned them against the genome reference sequence. Based on the original alignment information and the realignment information, this method determined the inversion signals. Finally, it clustered the inversion signals to determine the location of the inversions. The performance of this method and the other two common inversion variation detection methods were compared on two datasets. The experimental results show that this method can obtain more satisfactory detection results.

Foundation Support

国家自然科学基金面上资助项目(61972134)
国家自然科学基金青年资助项目(61602156)
河南省科技攻关资助项目(192102210118)
河南理工大博士基金资助项目(B2018-36)

Publish Information

DOI: 10.19734/j.issn.1001-3695.2020.10.0380
Publish at: Application Research of Computers Printed Article, Vol. 38, 2021 No. 7
Section: Technology of Information Security
Pages: 2169-2174
Serial Number: 1001-3695(2021)07-047-2169-06

Publish History

[2021-07-05] Printed Article

Cite This Article

罗军伟, 杜彩云, 霍占强. 基于长读数和重比对的倒位变异检测方法 [J]. 计算机应用研究, 2021, 38 (7): 2169-2174. (Luo Junwei, Du Caiyun, Huo Zhanqiang. Inversion variation detection method based on long reads and realignment [J]. Application Research of Computers, 2021, 38 (7): 2169-2174. )

About the Journal

  • Application Research of Computers Monthly Journal
  • Journal ID ISSN 1001-3695
    CN  51-1196/TP

Application Research of Computers, founded in 1984, is an academic journal of computing technology sponsored by Sichuan Institute of Computer Sciences under the Science and Technology Department of Sichuan Province.

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