Article
A decision tree to improve identification of pathogenic mutations in clinical practice.
BMC medical informatics and decision making - 10 Mar 2020
do Nascimento Priscilla Machado, Medeiros Inácio Gomes, Falcão Raul Maia, Stransky Beatriz, de Souza Jorge Estefano Santana
Abstract excerpt
BACKGROUND: A variant of unknown significance (VUS) is a variant form of a gene that has been identified through genetic testing, but whose significance to the organism function is not known. An actual challenge in precision medicine is to precisely identify which detected mutations from a sequencing process have a suitable role in the treatment or diagnosis of a disease. The average accuracy of pathogenicity...
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