SVCollector: Optimized sample selection for validating and long-read resequencing of structural variants

Abstract

SummaryStructural Variations (SVs) are increasingly recognized for their importance in genomics. Short-read sequencing is the most widely-used approach for genotyping large numbers of samples for SVs but suffers from relatively poor accuracy. Here we present SVCollector, an open-source method that optimally selects samples to maximize variant discovery and validation using long read resequencing or PCR-based validation. SVCollector has two modes: selecting those samples that are individually the most diverse or those that collectively capture the largest number of variations.\n\nAvailabilityhttps://github.com/fritzsedlazeck/SVCollector\n\nContactfritz.sedlazeck@bcm.edu\n\nSupplementary informationSupplementary data are available at Bioinformatics online.