SVCollector: Optimized sample selection for validating and long-read resequencing of structural variants
bioRxiv(2018)
摘要
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
Contact fritz.sedlazeck{at}bcm.edu
Supplementary information Supplementary data are available at Bioinformatics online.
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