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...

Descripción completa

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

Internet

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

Ejemplares similares