Author

Dona Kanavy

University of North Carolina at Chapel HillORCID 0000-0003-4770-485XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Jonathan S. BergiD· 2 shared Sarah E. BrnichiD· 2 shared Shannon M. McNultyiD· 2 shared Ahmad N. Abou TayouniD· 1 shared Bradford C. PowelliD· 1 shared Chris BizoniD· 1 shared Christopher D. HeineniD· 1 shared Fergus J. CouchiD· 1 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetics

Jonathan S. BergORCID

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2 papers

Recent·Most cited

GeneticsGenome MedicinePeer-reviewedDec 31, 2019

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

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.

646 citationstop 1%

statistical modelbenchmarking

𝕏 PostBluesky

Genetic & Genomic MedicineGenome MedicinePeer-reviewedNov 29, 2019

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

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.

50 citations

whole-exome sequencingstatistical model

𝕏 PostBluesky