Cargando…
Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians
BACKGROUND: In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a diagnosis based on the complete set of variants provided by the lab. We tested...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374885/ https://www.ncbi.nlm.nih.gov/pubmed/32698834 http://dx.doi.org/10.1186/s13023-020-01461-1 |