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Article

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2018

Tavtigian Sean V, Greenblatt Marc S, Harrison Steven M, Nussbaum Robert L, Prabhu Snehit A, Boucher Kenneth M, Biesecker Leslie G

Abstract excerpt

PURPOSE: We evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines for internal consistency and compatibility with Bayesian statistical reasoning. METHODS: The ACMG/AMP criteria were translated into a naive Bayesian classifier, assuming four levels of evidence and exponentially scaled odds of pathogenicity. We tested this...

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Identifiers

PMID: 29300386
DOI: 10.1038/gim.2017.210
PMCID: PMC6336098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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