Article

Evaluation of Bayesian Point-Based System on the Variant Classification of Hereditary Cancer Predisposition Genes

2024-03-06

Abstract excerpt

<h4>Purpose</h4> To assess the differences in variant classifications using the ACMG/AMP 2015 guidelines and the Bayesian point-based classification system (here referred to as the point system) in 115 hereditary cancer predisposition genes and explore the utility of the point system in variant sub-tiering. <h4>Methods</h4> Germline variant classifications for 721 pediatric patients from an in-house panel were ret...

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Literature Corpus work: fdd958da-3ecd-5667-96f8-24b46cc06beb
DOI: 10.1101/2024.03.04.24303679

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