Author(s)

Hai Yang

Corresponding Author

Hai Yang

ABSTRACT

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.

KEYWORDS

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