MARGINAL: An Automatic Classification of Variants in <i>BRCA1</i> and <i>BRCA2</i> Genes Using a Machine Learning Model

MARGINAL: An Automatic Classification of Variants in <i>BRCA1</i> and <i>BRCA2</i> Genes Using a Machine Learning Model

Implementation of next-generation sequencing (NGS) for the genetic analysis of hereditary diseases has resulted in a vast number of genetic variants identified daily, leading to inadequate variant interpretation and, consequently, a lack of useful clinical information for treatment decisions. Herein...

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Bibliographic Details
Main Authors: Vasiliki Karalidou, Despoina Kalfakakou, Athanasios Papathanasiou, Florentia Fostira, George K. Matsopoulos
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Biomolecules
Subjects:
genomics
<i>BRCA1/2</i> genes
machine learning
rare variant interpretation
ACMG-AMP guidelines
variant pathogenicity
Online Access:https://www.mdpi.com/2218-273X/12/11/1552

Internet

https://www.mdpi.com/2218-273X/12/11/1552

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