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

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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Bibliographic Details
Main Authors: Asmaa A. Helal, Bishoy T. Saad, Mina T. Saad, Gamal S. Mosaad, Khaled M. Aboshanab
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:Scientific Reports
Subjects:
Structural variations (SVs)
Mutation detection
Human genome
Nanopore sequencing
Oxford nanopore technology
Online Access:https://doi.org/10.1038/s41598-024-56604-2

Internet

https://doi.org/10.1038/s41598-024-56604-2

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