Education, Science, Technology, Innovation and Life
Open Access
Sign In

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

Download as PDF

DOI: 10.23977/meet.2019.93724


Hai Yang

Corresponding Author

Hai Yang


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.


Detection Method, Structural Variation, Next-Generation Sequencing, High-Throughput Sequencing, Evaluating Method

All published work is licensed under a Creative Commons Attribution 4.0 International License.

Copyright © 2016 - 2031 Clausius Scientific Press Inc. All Rights Reserved.