TY - JOUR T1 - SV<sup>2</sup>: Accurate Structural Variation Genotyping and <em>De Novo</em> Mutation Detection JF - bioRxiv DO - 10.1101/113498 SP - 113498 AU - Danny Antaki AU - William M Brandler AU - Jonathan Sebat Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/03/03/113498.abstract N2 - Structural Variation (SV) detection from short-read Illumina whole genome sequencing is error prone, presenting significant challenges for analysis in particularly, de novo mutations.Here we describe SV2, a machine-learning algorithm for genotyping deletions and tandem duplications from paired-end whole genome sequencing data. SV2 can rapidly integrate variant calls from multiple structural variant discovery algorithms into a unified callset with low rates of false discoveries and Mendelian errors, accurate de novo detection with no transmission bias in families. ER -