Author

Bryce A. Seifert

University of North Carolina at Chapel HillORCID 0000-0001-7970-3611Unclaimed 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:benchmarking· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:database / resource· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ann Katherine M. ForemaniD· 2 shared Jonathan S. BergiD· 2 shared Julianne M. O’DanieliD· 2 shared Kristy LeeiD· 2 shared Laura V. MilkoiD· 2 shared Natasha T. StrandeiD· 2 shared Sharon E. PloniD· 2 shared Stephanie B. CrowleyiD· 2 shared

Activity by Year

2017-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ann Katherine M. ForemanORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineHuman MutationPeer-reviewedDec 10, 2020

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Cristina Fortuño, Kristy Lee, Magali Olivier…·the ClinGen TP53 Variant Curation Expert Panel

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

170 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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