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Article

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Experimental and molecular pathology - 1 Aug 2008

Bayrak-Toydemir Pinar, McDonald Jamie, Mao Rong, Phansalkar Amit, Gedge Friederike, Robles Jorge, Goldgar David, Lyon Elaine

Abstract excerpt

Clinical laboratories performing gene sequencing discover previously unreported and/or uncharacterized variants. Often these are missense or intronic mutations in which the contribution to disease cannot be predicted, and consequently these mutations are reported as variants of uncertain significance. Follow-up to assess family concordance is recommended by the American College of Medical Genetics to provide...

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PMID: 18495117
DOI: 10.1016/j.yexmp.2008.03.006

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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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