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

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 sequencin...

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Detalles Bibliográficos
Autores principales: do Nascimento, Priscilla Machado, Medeiros, Inácio Gomes, Falcão, Raul Maia, Stransky, Beatriz, de Souza, Jorge Estefano Santana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063785/
https://www.ncbi.nlm.nih.gov/pubmed/32151256
http://dx.doi.org/10.1186/s12911-020-1060-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063785/
https://www.ncbi.nlm.nih.gov/pubmed/32151256
http://dx.doi.org/10.1186/s12911-020-1060-0

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