Structural variations (SV) are broadly defined as genomic alterations that affect > 50 bp of DNA, which are shown to have significant effect on evolution and disease. The advent of high throughput sequencing (HTS) technologies and the ability to perform whole genome sequencing (WGS), makes it feasible to study these variants in depth. However, discovery of all forms of SV using WGS has proven to be challenging as the short reads produced by the predominant HTS platforms (<200bp for current technologies) and the fact that most genomes include large amounts of repeats make it very difficult to unambiguously map accurately characterize such variants. furthermore, existing tools sv discovery are primarily developed only a few types, which may have conflicting sequence signatures (i.e. read pairs, depth, split reads) with other, untargeted classes. here we introduce new framework, tardis, combines multiple into single package types simultaneously, while preventing conflicts. tardis also has modular structure makes easy extend additional forms sv. copyright © 2017. published by elsevier inc.
Journal: Methods
DOI: 10.1016/j.ymeth.2017.05.030
Year: 2017