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

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

Assessing the pathogenicity of a disease-associated genetic variant in animals accurately is vital, both on a population and individual scale. At the population level, breeding decisions based on invalid DNA tests can lead to the incorrect inclusion or exclusion of animals and compromise the long-te...

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Main Authors: Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Iris Casselman, Caroline Dufaure de Citres, Jessica J. Hayward, Jens Häggström, Mark D. Kittleson, Elvio Lepri, Ingrid Ljungvall, Maria Longeri, Leslie A. Lyons, Åsa Ohlsson, Luc Peelman, Pascale Smets, Tommaso Vezzosi, Frank G. van Steenbeek, Bart J.G. Broeckx
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Veterinary Science
Subjects:
(clinical) genetic testing
genetic variant datasets
interpretation
reproducibility
in silico variant effect predictor tools
across-species classification
Online Access:https://www.frontiersin.org/articles/10.3389/fvets.2024.1497817/full
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https://www.frontiersin.org/articles/10.3389/fvets.2024.1497817/full

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