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Kled: an ultra-fast and sensitive structural variant detection tool for long-read sequencing data.
Zhang, Zhendong; Jiang, Tao; Li, Gaoyang; Cao, Shuqi; Liu, Yadong; Liu, Bo; Wang, Yadong.
Afiliação
  • Zhang Z; Center for Bioinformatics, Faculty of Computing, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.
  • Jiang T; Key Laboratory of Biological Bigdata, Ministry of Education, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.
  • Li G; Center for Bioinformatics, Faculty of Computing, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.
  • Cao S; Zhengzhou Research Institute, Harbin Institute of Technology, Zhengzhou, Henan, 450000, China.
  • Liu Y; Key Laboratory of Biological Bigdata, Ministry of Education, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.
  • Liu B; Center for Bioinformatics, Faculty of Computing, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.
  • Wang Y; Key Laboratory of Biological Bigdata, Ministry of Education, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.
Brief Bioinform ; 25(2)2024 Jan 22.
Article em En | MEDLINE | ID: mdl-38385878
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Genômica Idioma: En Revista: Brief Bioinform Assunto da revista: BIOLOGIA / INFORMATICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Genômica Idioma: En Revista: Brief Bioinform Assunto da revista: BIOLOGIA / INFORMATICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China