<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.
Authors
- Wei Xie (ORCID: https://orcid.org/0000-0001-6288-3046)
- Wei Hu (ORCID: https://orcid.org/0000-0003-2267-9045)
Institutions
- Sun Yat-sen University (CN)
- Doylestown Hospital (US)
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
- 0.00