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A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

Genomic variant interpretation is a critical step of the diagnostic procedure, often supported by the application of tools that may predict the damaging impact of each variant or provide a guidelines-based classification. We propose the application of Machine Learning methodologies, in particular Pe...

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Detalles Bibliográficos
Autores principales:	Nicora, Giovanna, Zucca, Susanna, Limongelli, Ivan, Bellazzi, Riccardo, Magni, Paolo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847497/ https://www.ncbi.nlm.nih.gov/pubmed/35169226 http://dx.doi.org/10.1038/s41598-022-06547-3

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