A randomized iterative approach for SV discovery with SVelter

Abstract

Genomic structural variants (SVs) are major sources of genome diversity, and numerous studies over the past few decades have shown the impact this class of genetic variation has had on human health and disease. In spite of the recent advances in sequencing technology and discovery methodology, there are still considerable amount of variants in the genome that are partially or completely misinterpreted. The computational tool introduced in this chapter, SVelter, is specifically designed to detect and resolve genomic SVs in all different formats, including the canonical as well as the complex.