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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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Detalles Bibliográficos
Autores principales:	Tavtigian, Sean V., Greenblatt, Marc S., Harrison, Steven M., Nussbaum, Robert L., Prabhu, Snehit A., Boucher, Kenneth M., Biesecker, Leslie G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336098/ https://www.ncbi.nlm.nih.gov/pubmed/29300386 http://dx.doi.org/10.1038/gim.2017.210

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