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Evaluation of Bayesian point-based system on the variant classification of hereditary cancer predisposition genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024

Eldomery Mohammad K, Maciaszek Jamie L, Cain Taylor, Loyola Victor Pastor, Mothi Suraj Sarvode, Wheeler David A, Tang Li, Wang Lu, Klco Jeffery M, Blackburn Patrick R

Abstract excerpt

PURPOSE: To assess the differences in variant classifications using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology 2015 guidelines and the Bayesian point-based classification system (here referred to as the point system) in 115 hereditary cancer predisposition genes and explore variant sub-tiering by the point system. METHODS: Germline variant classifications for...

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PMID: 39306722
DOI: 10.1016/j.gim.2024.101276

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