Article

SV <sup>2</sup> : Accurate Structural Variation Genotyping and <i>De Novo</i> Mutation Detection from Whole Genomes

2017-03-03

Abstract excerpt

<h4>Motivation</h4> Structural Variation (SV) detection from short-read whole genome sequencing is error prone, presenting significant challenges for population or family-based studies of disease. <h4>Results</h4> Here we describe SV 2 , a machine-learning algorithm for genotyping deletions and duplications from paired-end sequencing data. SV 2 can rapidly integrate variant calls from multiple structural varia...

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Literature Corpus work: 694cd0f4-667b-54fb-9a96-d1585bfcec9c
DOI: 10.1101/113498

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