Article

Reproducibility of the evaluation of genetic variant pathogenicity based on the animal variant classification guidelines

2025-11-14

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 ambiguous interpretation. With the publication of the animal variant classification guidelines (AVCG), a more objective approach became available. Variants are evaluated...

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Literature Corpus work: b4b8652a-2030-5393-ad81-ff7aa30ea35e
DOI: 10.1101/2025.11.12.687631

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