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...
Main Authors: | Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-07-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-020-01461-1 |
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