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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Asmaa A. Helal, Bishoy T. Saad, Mina T. Saad, Gamal S. Mosaad, Khaled M. Aboshanab
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2024-03-01
Edice:	Scientific Reports
Témata:	Structural variations (SVs) Mutation detection Human genome Nanopore sequencing Oxford nanopore technology
On-line přístup:	https://doi.org/10.1038/s41598-024-56604-2
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!