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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-03-01
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Series: | BMC Medical Informatics and Decision Making |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12911-020-1060-0 |