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.
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cuteSV is 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 Pacific Biosciences (PacBio) and Oxford Nanopore Technology
(ONT) datasets demonstrate that cuteSV has better yields and scalability
than state-of-the-art tools.
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