Author

Pascale M. Y. Smets

Ghent UniversityORCID 0000-0002-9375-2599Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Organism:mouse· 1 Organism:non-human primate· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Åsa OhlssoniD· 2 shared Bart J. G. BroeckxiD· 2 shared Caroline Dufaure de CitresiD· 2 shared Frank G. van SteenbeekiD· 2 shared Ingrid LjungvalliD· 2 shared Iris CasselmaniD· 2 shared Jens U. HäggströmiD· 2 shared Jessica J. HaywardiD· 2 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Åsa OhlssonORCID

Mutual co-authors in cluster

Author profile →

2 papers

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

Variant classification guidelines for animals to objectively evaluate genetic variant pathogenicity

Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Iris Casselman, Caroline Dufaure de Citres, Jessica J. Hayward, Jens U. Häggström, Mark D. Kittleson, Elvio Lepri, Ingrid Ljungvall, M. Longeri, Leslie A. Lyons, Åsa Ohlsson, Luc J. Peelman, Pascale M. Y. Smets, , Bart J. G. Broeckx

This paper develops and validates variant classification guidelines for animals, improving the accuracy of pathogenicity assessment in cats and eight other species.

bioRxiv · Sep 17, 2024 · PreprintGenetics