RT Journal Article
SR Electronic
T1 SV<sup>2</sup>: Accurate Structural Variation Genotyping and <em>De Novo</em> Mutation Detection from Whole Genomes
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 113498
DO 10.1101/113498
A1 Danny Antaki
A1 William M Brandler
A1 Jonathan Sebat
YR 2017
UL http://biorxiv.org/content/early/2017/03/17/113498.abstract
AB Structural Variation (SV) detection from short-read whole genome sequencing is error prone, presenting significant challenges for analysis, de novo mutations in particular.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 with accurate de novo detection.