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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
Genome‐scale high‐throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population‐based reference datasets such as ExAC/gnomAD, while variants are classified using t...
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| Publicado no: | Clin Genet |
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| Principais autores: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Publishing Ltd
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7004123/ https://ncbi.nlm.nih.gov/pubmed/31506931 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13640 |
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