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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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| Publicat a: | Genet Med |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2016
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| Matèries: | |
| Accés en línia: | 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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