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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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Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Asmaa A. Helal, Bishoy T. Saad, Mina T. Saad, Gamal S. Mosaad, Khaled M. Aboshanab
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Nature Portfolio 2024-03-01
Rangatū:Scientific Reports
Ngā marau:
Urunga tuihono:https://doi.org/10.1038/s41598-024-56604-2
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