Jointly benchmarking small and structural variant calls with vcfdist
Abstract In this work, we extend vcfdist to be the first variant call benchmarking tool to jointly evaluate phased single-nucleotide polymorphisms (SNPs), small insertions/deletions (INDELs), and structural variants (SVs) for the whole genome. First, we find that a joint evaluation of small and stru...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2024-10-01
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| coleção: | Genome Biology |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13059-024-03394-5 |
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