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

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Date: 8th June 2018 | Source:

Authors: Fritz J. Sedlazeck, Zachary Lemmon, Sebastian Soyk, William J. Salerno, Zachary Lippman, Michael C. Schatz

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.

Available on Github: https://github.com/fritzsedlazeck/SVCollector

BioRxiv - Full text

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