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

Tool

Date: 3rd August 2020 | Source:

Authors: Tao Jiang, Yongzhuang Liu, Yue Jiang, Junyi Li, Yan Gao, Zhe Cui, Yadong Liu, Bo Liu, Yadong Wang

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.

Watch Tao Jiang's talk on CuteSV at this year's London Calling

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