Article
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
Genes - 25 Nov 2021
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
Abstract excerpt
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 overcome subjective interpretation of criteria and classification inconsistencies. Here, we developed an ACMG-based...
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