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SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection

By Danny Antaki, William M Brandler, Jonathan Sebat

Posted 03 Mar 2017
bioRxiv DOI: 10.1101/113498 (published DOI: 10.1093/bioinformatics/btx813)

Structural Variation (SV) detection from short-read whole genome sequencing is error prone, presenting significant challenges for population or family-based studies of disease. 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.

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