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...

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Detalles Bibliográficos
Autores principales: Segal, Michael M., George, Renee, Waltman, Peter, El-Hattab, Ayman W., James, Kiely N., Stanley, Valentina, Gleeson, Joseph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
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

Internet

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

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