Research on the Detection Method of Structural Variation based on Next-Generation Sequencing Data

被引：0
|
作者：
Yang, Hai [1 ]
机构：
[1] Shandong Univ, Sch Comp Sci & Technol, Qingdao 266237, Shandong, Peoples R China
来源：
2019 2ND INTERNATIONAL CONFERENCE ON MECHANICAL, ELECTRONIC AND ENGINEERING TECHNOLOGY (MEET 2019) | 2019年
关键词：
detection method; structural variation; Next-Generation Sequencing; high-throughput sequencing; evaluating method;
D O I：
10.23977/meet.2019.93724
中图分类号：
TM [电工技术]; TN [电子技术、通信技术];
学科分类号：
0808 ; 0809 ;
摘要：
The detection method of structural variation is one of the most important research field of bioinformatics. In this paper, next-generation sequencing and high-throughput sequencing technoloy are introduced firstly. Next, the types of genome structural variation such as insertion, deletion, duplication, copy-number variant, inversion and translocation are elaborated. Thirdly, four main detection methods of SV are illustrated in detail including paired-end, read-depth, split-read and assembly. Finally, this paper propose several parameters and a evaluating method of structural variation detection.
引用
收藏
页码：160 / 164
页数：5
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