Long-read-based Human Genomic Structural Variation Detection with cuteSV
Long-read-based Human Genomic Structural Variation Detection with cuteSV
Abstract Long-read sequencing enables the comprehensive discovery of structural variations (SVs). However, it is still non-trivial to achieve high sensitivity and performance simultaneously due to the complex SV characteristics implied by noisy long reads. Therefore, 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 analyze the signatures to implement sensitive SV detection. Benchmarks on real PacBio and ONT datasets demonstrate that cuteSV has better yields and scalability than state-of-the-art tools. cuteSV is available at https://github.com/tjiangHIT/cuteSV.
Li Junyi、Jiang Yue、Cui Zhe、Gao Yan、Jiang Tao、Liu Bo、Wang Yadong、Liu Yadong
Center for Bioinformatics, School of Computer Science and Technology, Harbin Institute of TechnologyNebula Genomics, HarbinCenter for Bioinformatics, School of Computer Science and Technology, Harbin Institute of TechnologyCenter for Bioinformatics, School of Computer Science and Technology, Harbin Institute of TechnologyCenter for Bioinformatics, School of Computer Science and Technology, Harbin Institute of TechnologyCenter for Bioinformatics, School of Computer Science and Technology, Harbin Institute of TechnologyCenter for Bioinformatics, School of Computer Science and Technology, Harbin Institute of TechnologyCenter for Bioinformatics, School of Computer Science and Technology, Harbin Institute of Technology
遗传学生物科学研究方法、生物科学研究技术分子生物学
Structural variants detectionLong-read sequencingHigh sensitivityScalability
Li Junyi,Jiang Yue,Cui Zhe,Gao Yan,Jiang Tao,Liu Bo,Wang Yadong,Liu Yadong.Long-read-based Human Genomic Structural Variation Detection with cuteSV[EB/OL].(2025-03-28)[2025-06-06].https://www.biorxiv.org/content/10.1101/780700.点此复制
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