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Article

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

Orphanet journal of rare diseases - 22 Jul 2020

Segal Michael M, George Renee, Waltman Peter, El-Hattab Ayman W, James Kiely N, Stanley Valentina, Gleeson Joseph

Abstract excerpt

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 a software approach to assist the clinician in making the diagnosis based on clinical findings and an annotated...

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Identifiers

PMID: 32698834
DOI: 10.1186/s13023-020-01461-1
PMCID: PMC7374885

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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