SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection from Whole Genomes

Abstract Motivation Structural Variation (SV) detection from short-read whole genome sequencing is error prone, presenting significant challenges for population or family-based studies of disease. Results Here we describe SV2, a machine-learning algorithm for genotyping deletions and duplications from paired-end sequencing data. SV2 can rapidly integrate variant calls from multiple structural variant discovery algorithms into a unified call set with high genotyping accuracy and capability to detect de novo mutations. Availability and Implementation SV2 is freely available on GitHub (https://github.com/dantaki/SV2)