Article
Consultation informs strategies for improving the use of functional evidence in variant classification.
American journal of human genetics - 5 Jun 2025
Villani Rehan M, Terrill Bronwyn, Tudini Emma, McKenzie Maddison E, Cliffe Corrina C, Hahn Christopher N, Lundie Ben, Mattiske Tessa, Matotek Ebony, McEwen Abbye E, Nickerson Sarah L, Breen James, Fowler Douglas M, Christodoulou John, Starita Lea, Rubin Alan F, Spurdle Amanda B
Abstract excerpt
When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite...
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