Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

Variant interpretation is challenging as it involves combining different levels of evidence in order to evaluate the role of a specific variant in the context of a patient’s disease. Many in-depth refinements followed the original 2015 American College of Medical Genetics (ACMG) guidelines to overco...

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Detalles Bibliográficos
Autores principales: Cristofoli, Francesca, Sorrentino, Elisa, Guerri, Giulia, Miotto, Roberta, Romanelli, Roberta, Zulian, Alessandra, Cecchin, Stefano, Paolacci, Stefano, Miertus, Jan, Bertelli, Matteo, Maltese, Paolo Enrico, Chiurazzi, Pietro, Stuppia, Liborio, Castori, Marco, Marceddu, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700904/
https://www.ncbi.nlm.nih.gov/pubmed/34946832
http://dx.doi.org/10.3390/genes12121885

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