<b>Human genomic tools to assess missense variant pathogenicity in domestic mammals using a mock-variant strategy</b>

A simple mock strategy can enable human genomic tools to predict the pathogenicity of rare missense variants in domestic mammals. Although specificity remains a limitation, and the strategy is primarily applicable to mutations on highly conserved amino acid residues, the results highlight the applicability for adapting human genomic prediction tools to advance veterinary genomics and animal research, with predictive performance potentially influenced by the sequence similarity between animal and human homologous proteins.

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Publication Details

Journal
Open Veterinary Journal
Published
2025-01-01
DOI
https://doi.org/10.5455/ovj.2025.v15.i10.35
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

Human genomic tools to assess missense variant pathogenicity in domestic mammals using a mock-variant strategy

Wei Xie, Wei Hu
Open Veterinary Journal
Genomics and Rare Diseases
article

Human genomic tools to assess missense variant pathogenicity in domestic mammals using a mock-variant strategy

Wei Xie, Wei Hu
article en

Abstract

A simple mock strategy can enable human genomic tools to predict the pathogenicity of rare missense variants in domestic mammals. Although specificity remains a limitation, and the strategy is primarily applicable to mutations on highly conserved amino acid residues, the results highlight the applicability for adapting human genomic prediction tools to advance veterinary genomics and animal research, with predictive performance potentially influenced by the sequence similarity between animal and human homologous proteins.

Open Veterinary JournalVol. 15(10)
Sun Yat-sen University (CN), Doylestown Hospital (US)
Openalex Percentile: Top 66%
Genomics and Rare Diseases
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