Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Abstract 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...

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Bibliographic Details
Main Authors: Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare disease diagnosis
Diagnostic decision support system
Artificial intelligence
Genomic analysis
Copy number variation
Online Access:http://link.springer.com/article/10.1186/s13023-020-01461-1

Internet

http://link.springer.com/article/10.1186/s13023-020-01461-1

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