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

Internet

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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