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MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 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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Detalles Bibliográficos
Autores principales: Karalidou, Vasiliki, Kalfakakou, Despoina, Papathanasiou, Athanasios, Fostira, Florentia, Matsopoulos, George K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9687470/
https://www.ncbi.nlm.nih.gov/pubmed/36358902
http://dx.doi.org/10.3390/biom12111552