Benchmarking long-read aligners and SV callers for structural variation detection in Oxford nanopore sequencing data

Abstract Structural variants (SVs) are one of the significant types of DNA mutations and are typically defined as larger-than-50-bp genomic alterations that include insertions, deletions, duplications, inversions, and translocations. These modifications can profoundly impact the phenotypic character...

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Autors principals:	Asmaa A. Helal, Bishoy T. Saad, Mina T. Saad, Gamal S. Mosaad, Khaled M. Aboshanab
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2024-03-01
Col·lecció:	Scientific Reports
Matèries:	Structural variations (SVs) Mutation detection Human genome Nanopore sequencing Oxford nanopore technology
Accés en línia:	https://doi.org/10.1038/s41598-024-56604-2
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