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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Bibliografiska uppgifter

Huvudupphov:	Asmaa A. Helal, Bishoy T. Saad, Mina T. Saad, Gamal S. Mosaad, Khaled M. Aboshanab
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Nature Portfolio 2024-03-01
Serie:	Scientific Reports
Ämnen:	Structural variations (SVs) Mutation detection Human genome Nanopore sequencing Oxford nanopore technology
Länkar:	https://doi.org/10.1038/s41598-024-56604-2
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