Consultation informs strategies for improving the use of functional evidence in variant classification.

ABSTRACT: 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 functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation. To investigate a growing gap articulated in recent international studies, we surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice. The survey results

SUBMITTER: Villani RM 

PROVIDER: S-EPMC12256917 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature