Article
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Human mutation - 1 Aug 2022
Thaxton Courtney, Good Molly E, DiStefano Marina T, Luo Xi, Andersen Erica F, Thorland Erik, Berg Jonathan, Martin Christa Lese, Rehm Heidi L, Riggs Erin R
Abstract excerpt
Understanding whether there is enough evidence to implicate a gene's role in a given disease, as well as the mechanisms by which variants in this gene might cause this disease, is essential to determine clinical relevance. The National Institutes of Health-funded Clinical Genome Resource (ClinGen) has developed evaluation frameworks to assess both the strength of evidence supporting a relationship between a gene...
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