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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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Portfolio
2024-03-01
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| coleção: | Scientific Reports |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1038/s41598-024-56604-2 |
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