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Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework
PURPOSE: We evaluated the ACMG/AMP variant pathogenicity guidelines for internal consistency and compatibility with Bayesian statistical reasoning. METHODS: The ACMG/AMP criteria were translated into a naïve Bayesian classifier, assuming four levels of evidence and exponentially scaled odds of patho...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6336098/ https://ncbi.nlm.nih.gov/pubmed/29300386 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.210 |
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