Article

SVScore: An Impact Prediction Tool For Structural Variation

2016-09-06

Abstract excerpt

<h4>Motivation</h4> Structural variation (SV) is an important and diverse source of human genome variation. Over the past several years, much progress has been made in the area of SV detection, but predicting the functional impact of SVs discovered in whole genome sequencing (WGS) studies remains extremely challenging. Accurate SV impact prediction is especially important for WGS-based rare variant association st...

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Literature Corpus work: 84468185-2381-55f8-abfd-8167d9e24103
DOI: 10.1101/073833

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