Author
University of North Carolina at Chapel HillORCID 0000-0003-3460-4905Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Sarah E. Brnich, Eyla C. Arteaga, Yueting Wang…·Jonathan S. Berg
The paper functionally analyzes PALB2 missense variants to improve clinical variant interpretation by providing evidence for pathogenic or benign classifications.
Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch…·Jonathan S. Berg
The paper provides structured recommendations for applying the PS3/BS3 functional evidence criteria in variant interpretation using the ACMG/AMP framework, including a four-step framework and minimum control requirements.
Dona Kanavy, Shannon M. McNulty, Meera K. Jairath…·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.