SVScore: An Impact Prediction Tool For Structural Variation

MotivationStructural 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 studies and studies of rare disease.\n\nResultsHere we present SVScore, a computational tool for in silico SV impact prediction. SVScore aggregates existing per-base single nucleotide polymorphism pathogenicity scores across relevant genomic intervals for each SV in a manner that considers varia