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

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.

关键词： detection method structural variation Next-Generation Sequencing high-throughput sequencing evaluating method

作者: Hai Yang

作者单位: School of Computer Science and Technology,Shandong University,Qingdao,266237,Shandong,China

会议类型: 国际会议

会议名称: 2019 2nd International Conference on Mechanical, Electronic and Engineering Technology (MEET 2019) 2019年第二届机电与工程技术国际会议

会议地点: 西安

会议语种:英文

页码: 160-164

在线出版日期: 2019-01-19（万方平台首次上网日期，不代表论文的发表时间）