Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals

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

doi:10.3389/fvets.2024.1497817

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Abstract

variant effect predictor tools. As the reproducibility was high, we classified 72 known disease-associated variants in cats and 40 other disease-associated variants in eight additional species.

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synapsesocial.com/papers/69fd3686f9b1bbfa2c27082f https://doi.org/10.3389/fvets.2024.1497817

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Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals

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Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals

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