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

bioRxiv(2018)

引用 5|浏览18
暂无评分
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.
更多
查看译文
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要