Author

Julianne M. O’Daniel

University of North Carolina at Chapel HillORCID 0000-0001-5843-4432Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:database / resource· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Jonathan S. BergiD· 3 shared Bryce A. SeifertiD· 2 shared Erin Rooney RiggsiD· 2 shared Heidi L. RehmiD· 2 shared J. Michael CherryiD· 2 shared Kristy LeeiD· 2 shared Laura V. MilkoiD· 2 shared Marina T. DiStefanoiD· 2 shared

Activity by Year

2017-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jonathan S. BergORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedJan 17, 2022

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

Christine G. Preston, Matt W. Wright, Rao Madhavrao…·Helio A. Costa

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

81 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 26, 2020

Genomic sequencing for newborn screening: Results of the NC NEXUS project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche…·Jonathan S. Berg

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

129 citationstop 1%

humanwhole-exome sequencing

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GeneticsThe American Journal of Human GeneticsPeer-reviewedMay 25, 2017

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan…·Jonathan S. Berg

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.

573 citationstop 1%

statistical modelbenchmarking

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