Reproducibility of the Evaluation of Genetic Variant Pathogenicity Based on the Animal Variant Classification Guidelines.

doi:10.1002/age.70145

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Article

Reproducibility of the Evaluation of Genetic Variant Pathogenicity Based on the Animal Variant Classification Guidelines.

Animal genetics - 1 Jun 2026

Casselman Iris, Ferrari Carlotta, Abitbol Marie, Bannasch Danika, Bell Jerold, de Citres Caroline Dufaure, Finno Carrie J, Hayward Jessica J, Häggström Jens, Huff Jason T, Leeb Tosso, Ljungvall Ingrid, Longeri Maria, Lyons Leslie A, Martinez Marcela, Mellersh Cathryn, Nicholas Frank W, Ohlsson Åsa, Smets Pascale, Strillacci Maria G, Tammen Imke, van Steenbeek Frank G, Broeckx Bart J G

Abstract excerpt

Until recently, due to the absence of standardized guidelines tailored for veterinary use, the evaluation of genetic variant pathogenicity for single-gene diseases was based on a personal interpretation of the presented evidence, which has led to inconsistencies. With the publication of the animal variant classification guidelines (AVCG), a more objective approach became available. Variants are evaluated by the...

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PMID: 42315170
DOI: 10.1002/age.70145

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