Author

Frank W. Nicholas

The University of SydneyORCID 0000-0002-9178-3965Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Organism:mouse· 1 Organism:non-human primate· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Åsa OhlssoniD· 1 shared Bart J. G. BroeckxiD· 1 shared Carlotta FerrariiD· 1 shared Caroline Dufaure de CitresiD· 1 shared Carrie J. FinnoiD· 1 shared Cathryn S. MellershiD· 1 shared Danika L. BannaschiD· 1 shared Frank G. van SteenbeekiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Åsa OhlssonORCID

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1 paper

Recent·Most cited

Reproducibility of the evaluation of genetic variant pathogenicity based on the animal variant classification guidelines

Iris Casselman, Carlotta Ferrari, Marie Abitbol, Danika L. Bannasch, Jerold S. Bell, Caroline Dufaure de Citres, Carrie J. Finno, Jessica J. Hayward, Jens U. Häggström, Jason T. Huff, Tosso Leeb, Ingrid Ljungvall, M. Longeri, Leslie A. Lyons, Marcela Martinez, , Bart J. G. Broeckx

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.

Animal Genetics · Jun 1, 2026Peer-reviewedGenetics