RT Journal Article
SR Electronic
T1 SVCollector: Optimized sample selection for validating and long-read resequencing of structural variants
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 342386
DO 10.1101/342386
A1 Fritz J. Sedlazeck
A1 Zachary Lemmon
A1 Sebastian Soyk
A1 William J. Salerno
A1 Zachary Lippman
A1 Michael C. Schatz
YR 2018
UL http://biorxiv.org/content/early/2018/06/08/342386.abstract
AB 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/SVCollectorContact fritz.sedlazeck{at}bcm.eduSupplementary information Supplementary data are available at Bioinformatics online.