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CADD score has limited clinical validity for the identification of pathogenic variants in non-coding regions in a hereditary cancer panel
PURPOSE: Several in silico tools have been shown to have reasonable research sensitivity and specificity for classifying sequence variants in coding regions. The recently-developed Combined Annotation Dependent Depletion (CADD) method generates predictive scores for single nucleotide variants (SNVs)...
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| Publicado no: | Genet Med |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5097698/ https://ncbi.nlm.nih.gov/pubmed/27148939 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.44 |
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