Author

Tommaso Vezzosi

University of PisaORCID 0000-0001-8301-6582Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Åsa OhlssoniD· 1 shared Bart J. G. BroeckxiD· 1 shared Caroline Dufaure de CitresiD· 1 shared Elvio LepriiD· 1 shared Frank G. van SteenbeekiD· 1 shared Fréderique BoeykensiD· 1 shared Heidi AndersoniD· 1 shared Ingrid LjungvalliD· 1 shared

Activity by Year

2024-2024 · 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

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