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bioRxiv · 10.1101/780700

Long Read based Human Genomic Structural Variation Detection with cuteSV

Jiang, T.·Liu, B.·Jiang, Y.·Gao, Y.·Cui, Z.·Liu, Y.·Wang, Y.
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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.

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Jiang, T., Liu, B., Jiang, Y., Gao, Y., Cui, Z., Liu, Y., Wang, Y.. 2019-09-24. Long Read based Human Genomic Structural Variation Detection with cuteSV. https://doi.org/10.1101/780700

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