Development and Validation of Animal Variant Classification Guidelines to Objectively Evaluate Genetic Variant Pathogenicity in Domestic Animals

Frederique Boeykens,Marie Abitbol, Heidi Anderson,Iris Casselman,Caroline Dufaure de Citres,Jessica J. Hayward,Jens Haggstrom,Mark D. Kittleson,Elvio Lepri,Ingrid Ljungvall,Maria Longeri,Leslie A. Lyons,Asa Ohlsson,Luc Peelman,Pascale Smets, Tommaso Vezzosi,Frank G. van Steenbeek,Bart J. G. Broeckx

FRONTIERS IN VETERINARY SCIENCE（2024）

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关键词

(clinical) genetic testing,genetic variant datasets,interpretation,reproducibility,<italic>in silico</italic> variant effect predictor tools,across-species classification,pathogenic,neutral

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