Long-read-based human genomic structural variation detection with cuteSV
Long-read-based human genomic structural variation detection with cuteSV
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DOI：
10.1186/s13059-020-02107-y
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发表时间：
2020-08-03
期刊：
影响因子：
12.3
通讯作者：
Wang, Yadong
中科院分区：
文献类型：
--
作者：
Jiang, Tao;Liu, Yongzhuang;Wang, Yadong
长读测序是全面发现结构变异（sv）的重要手段。然而，由于噪声长读所隐含的复杂SV特征，同时实现高产量和性能仍然不是一件容易的事情。我们提出了一种敏感、快速、可扩展的基于长读的SV检测方法cuteSV。cuteSV采用定制化的方法收集各种类型SV的特征，并采用聚类和细化的方法实现敏感的SV检测。模拟和真实长读测序数据集的基准测试表明，与最先进的工具相比，cuteSV具有更高的产量和扩展性能。cuteSV的网址是https://github.com/tjiangHIT/cuteSV。
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.