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MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.

Biomolecules - 24 Oct 2022

Karalidou Vasiliki, Kalfakakou Despoina, Papathanasiou Athanasios, Fostira Florentia, Matsopoulos George K

Abstract excerpt

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, we present MARGINAL 1.0.0, a machine learning (ML)-based software for the interpretation of rare BRCA1 and BRCA2...

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Identifiers

PMID: 36358902
DOI: 10.3390/biom12111552
PMCID: PMC9687470

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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