ArticlePLoS genetics2020
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.
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86 citing papers in PubMed, 173 citations in OpenAlex.
- First Genome Assembly of the Critically Endangered Arabian Leopard (International journal of molecular sciences · 2026Article
- Genetic Diversity and Population Structure of the Black-Footed Cat: Insights intobioRxiv : the preprint server for biology · 2026Article
- Genome Scans Reveal Species-Specific Selection in the Genus Lynx.Genome biology and evolution · 2026Article
- Whole-genome sequencing of CRFK and PG-4 cells to infer the phenotype of the original donor cats.Companion animal health and genetics · 2026Article
- Large-scale genomic phylogeography provides insights into evolutionary history and conservation priorities of the white-bellied pangolin (Phataginus tricuspis).Molecular biology and evolution · 2026Article
- The oncogenome of the domestic cat.Science (New York, N.Y.) · 2026Article
- The Japanese Archipelago sheltered cave lions, not tigers, during the Late Pleistocene.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Transcriptomes of thirteen healthy feline tissue types.BMC genomics · 2025Article
- Characterisation of the Historic Demographic Decline of the British European Polecat Population.Molecular ecology · 2025Article
- Unraveling the genetics of feline hypertrophic cardiomyopathy: a multiomics study of 138 cats.G3 (Bethesda, Md.) · 2025Article
- Chromosome-scale assembly with improved annotation provides insights into breed-wide genomic structure and diversity in domestic cats.Journal of advanced research · 2025Article
- Establishing a robust genetic sequencing and gene expression data library in cardiovascularly healthy cats.Scientific reports · 2025Article
- Molecular and genetic characterization of sex-linked orange coat color in the domestic cat.Current biology : CB · 2025Article
- Copy-cat evolution: Divergence and convergence within and between cat and dog breeds.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Parameterizing Pantherinae: De Novo Mutation Rate Estimates from Panthera and Neofelis Pedigrees.Genome biology and evolution · 2025Article
- A framework to refocus the conversation around the welfare of UK purebred cats.Animal welfare (South Mimms, England) · 2025Review
- Genetic Testing: practical dos and don'ts for cats.Journal of feline medicine and surgery · 2024Review
- Article
- PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.G3 (Bethesda, Md.) · 2024Article
- Toward telomere-to-telomere cat genomes for precision medicine and conservation biology.Genome research · 2024Review
26 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 6 institutions in 1 country.
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Abstract
The domestic cat (Felis catus) numbers over 94 million in the USA alone, occupies households as a companion animal, and, like humans, suffers from cancer and common and rare diseases. However, genome-wide sequence variant information is limited for this species. To empower trait analyses, a new cat genome reference assembly was developed from PacBio long sequence reads that significantly improve sequence representation and assembly contiguity. The whole genome sequences of 54 domestic cats were aligned to the reference to identify single nucleotide variants (SNVs) and structural variants (SVs). Across all cats, 16 SNVs predicted to have deleterious impacts and in a singleton state were identified as high priority candidates for causative mutations. One candidate was a stop gain in the tumor suppressor FBXW7. The SNV is found in cats segregating for feline mediastinal lymphoma and is a candidate for inherited cancer susceptibility. SV analysis revealed a complex deletion coupled with a nearby potential duplication event that was shared privately across three unrelated cats with dwarfism and is found within a known dwarfism associated region on cat chromosome B1. This SV interrupted UDP-glucose 6-dehydrogenase (UGDH), a gene involved in the biosynthesis of glycosaminoglycans. Importantly, UGDH has not yet been associated with human dwarfism and should be screened in undiagnosed patients. The new high-quality cat genome reference and the compilation of sequence variation demonstrate the importance of these resources when searching for disease causative alleles in the domestic cat and for identification of feline biomedical models.
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