Briefings in Bioinformatics · 2024 · 23 citations · 29 references
Life SciencesBioinformaticsHigh-performance ComputingGenomic Data AnalysisGenomicsSequence AnalysisDna SequencingNext-generation SequencingStructural Variant AnalysisVariant AnalysisVariant CallingVariant DetectionGenetic Variant CallingGenetic Variant DetectionLong-read SequencingLong-read Variant DetectionRefinement StrategiesStructural Variant DetectionVariant Calling From Long ReadsVariant Detection From Long Reads
Structural Variants (SVs) are a crucial type of genetic variant that can significantly impact phenotypes. Therefore, the identification of SVs is an essential part of modern genomic analysis. In this article, we present kled, an ultra-fast and sensitive SV caller for long-read sequencing data given the specially designed approach with a novel signature-merging algorithm, custom refinement strategies and a high-performance program structure. The evaluation results demonstrate that kled can achieve optimal SV calling compared to several state-of-the-art methods on simulated and real long-read data for different platforms and sequencing depths. Furthermore, kled excels at rapid SV calling and can efficiently utilize multiple Central Processing Unit (CPU) cores while maintaining low memory usage. The source code for kled can be obtained from https://github.com/CoREse/kled.
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