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NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data
BACKGROUND: Structural variants (SVs) play a causal role in numerous diseases but are difficult to detect and accurately genotype (determine zygosity) in whole-genome next-generation sequencing data. SV genotypers that assume that the aligned sequencing data uniformly reflect the underlying SV or us...
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| Publicado no: | Gigascience |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8246072/ https://ncbi.nlm.nih.gov/pubmed/34195837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/gigascience/giab046 |
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