Structural variation discovery with next-generation sequencing

One of the most important direction of bioinformatics is the genome structural variation discovery. In this paper, firstly we explain four sequencing-based methods, i.e., Read-pair, Read-depth, Split-read and Assembly. Secondly, the advantage and disadvantage of the approaches are discussed. Thirdly, the combination of the methods is proved to be a better one. Finally, a novel combined strategy was analyzed that will be the direction of the future.