A decision tree to improve identification of pathogenic mutations in clinical practice

A decision tree to improve identification of pathogenic mutations in clinical practice

Abstract 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 s...

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Bibliographic Details
Main Authors: Priscilla Machado do Nascimento, Inácio Gomes Medeiros, Raul Maia Falcão, Beatriz Stransky, Jorge Estefano Santana de Souza
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Medical Informatics and Decision Making
Subjects:
Decision tree
VOUS
Pathogenicity
Mutation
Predictor
Precision medicine
Online Access:http://link.springer.com/article/10.1186/s12911-020-1060-0

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http://link.springer.com/article/10.1186/s12911-020-1060-0

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