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

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Abstract

Summary Structural 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. Availability https://github.com/fritzsedlazeck/SVCollector Contact [email protected] Supplementary information Supplementary data are available at Bioinformatics online.

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europepmc
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License: CC-BY-ND-4.0