Author

Elvio Lepri

University of PerugiaORCID 0000-0001-8478-8154Unclaimed 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 Frank G. van SteenbeekiD· 1 shared Fréderique BoeykensiD· 1 shared Heidi AndersoniD· 1 shared Ingrid LjungvalliD· 1 shared Iris CasselmaniD· 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

GeneticsbioRxivPreprintSep 17, 2024

Variant classification guidelines for animals to objectively evaluate genetic variant pathogenicity

Fréderique Boeykens, Marie Abitbol, Heidi Anderson…·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.

2 citations

whole-exome sequencingstatistical model

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