Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Dona Kanavy, Shannon M. McNulty, Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg
The paper evaluates how ClinGen Variant Curation Expert Panels (VCEPs) use functional assay evidence in variant classification, finding variability in assay selection and validation parameters.
Genome Medicine · Nov 29, 2019Peer-reviewedGenetic & Genomic Medicine