Long-read-based human genomic structural variation detection with cuteSVTool
Date: 3rd August 2020 | Source:
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.