首页> 外文期刊>Genome Biology >Long-read-based human genomic structural variation detection with cuteSV
【24h】

Long-read-based human genomic structural variation detection with cuteSV

机译:基于读取的人类基因组结构变异检测与CUTESV

获取原文
           

摘要

Long-read sequencing is promising for the comprehensive discovery of structural variations (SVs). However, it is still non-trivial to achieve high yields and performance simultaneously due to the complex SV signatures implied by noisy long reads. We propose cuteSV, a sensitive, fast, and scalable long-read-based SV detection approach. cuteSV uses tailored methods to collect the signatures of various types of SVs and employs a clustering-and-refinement method to implement sensitive SV detection. Benchmarks on simulated and real long-read sequencing datasets demonstrate that cuteSV has higher yields and scaling performance than state-of-the-art tools. cuteSV is available at https://github.com/tjiangHIT/cuteSV .
机译:长读测序是对结构变异的综合发现(SV)的综合发现。然而,由于嘈杂的长读取暗示的复杂的SV签名,它仍然是不普遍的。同时实现高产率和性能。我们提出了Cutesv,敏感,快速,可扩展的基于长读的SV检测方法。 Cutesv使用量身定制的方法来收集各种类型的SVS的签名,并采用聚类和细化方法来实现敏感的SV检测。模拟和真正的长读取测序数据集的基准证明Cutesv具有比最先进的工具更高的收益率和缩放性能。 Cutesv在https://github.com/tjianghit/cutesv提供。

著录项

获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号