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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| 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 |