Litcius/Paper detail

Kled: an ultra-fast and sensitive structural variant detection tool for long-read sequencing data

Zhendong Zhang, Tao Jiang, Gaoyang Li, Shuqi Cao, Yadong Liu, Bo Liu, Yadong Wang

2024Briefings in Bioinformatics23 citationsDOIOpen Access PDF

Abstract

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.

Topics & Concepts

Computer scienceIdentification (biology)Source codeCode (set theory)DNA sequencingState (computer science)Data miningComputational biologyAlgorithmBiologyGeneticsOperating systemSet (abstract data type)Programming languageGeneBotanyGenomics and Phylogenetic StudiesGenomics and Rare DiseasesGene expression and cancer classification