Long-read-based human genomic structural variation detection with cuteSV
Posted on 2020-08-04 - 04:21
Abstract 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 .
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Jiang, Tao; Liu, Yongzhuang; Jiang, Yue; Li, Junyi; Gao, Yan; Cui, Zhe; et al. (2020). Long-read-based human genomic structural variation detection with cuteSV. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.5081515
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AUTHORS (9)
TJ
Tao Jiang
YL
Yongzhuang Liu
YJ
Yue Jiang
JL
Junyi Li
YG
Yan Gao
ZC
Zhe Cui
YL
Yadong Liu
BL
Bo Liu
YW
Yadong Wang