ArticleAnimal genetics2019
A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.
Article in Animal genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
144 citing papers in PubMed, 190 citations in OpenAlex.
- FLCN Multi-Exon Deletion in a Chihuahua With Renal Cysts and Nodular Dermatofibrosis.Animal genetics · 2026Article
- A Combination of Alleles in LMOD2 and a lncRNA is Strongly Associated With Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels.Animal genetics · 2026Article
- A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel.Journal of veterinary internal medicine · 2026Article
- SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia.Animal genetics · 2026Article
- Dystrophin-Deficient Muscular Dystrophy in a Jack Russell Terrier With a Large Deletion in the Canine DMD Gene.Veterinary medicine and science · 2026Article
- A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers.Scientific reports · 2026Article
- GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis.Animal genetics · 2026Article
- A novel missense variant in the calcium-sensing receptor gene in a dog with hypercalcemia.Journal of veterinary internal medicine · 2026Article
- Fine-scale recombination rates inferred using the canFam4 assembly are strongly correlated with previous maps of dog recombination.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Bilateral Cranial Cruciate Ligament Rupture Treatment in a Dog Affected by Classical Ehlers-Danlos Syndrome.Veterinary sciences · 2025Article
- LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction.Animal genetics · 2025Article
- ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.Animal genetics · 2025Article
- Determinants of de novo mutations in extended pedigrees of 43 dog breeds.Genome biology · 2025Article
- EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- LMF1 frameshift deletion in Franches-Montagnes horses with hypertriglyceridemia-induced pancreatitis.Scientific reports · 2025Article
- Article
- PCR-based detection of hereditary mutations inJournal of veterinary science · 2025Article
- Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis.Veterinary dermatology · 2025Article
- Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency.Scientific reports · 2025Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
The domestic dog serves as an excellent model to investigate the genetic basis of disease. More than 400 heritable traits analogous to human diseases have been described in dogs. To further canine medical genetics research, we established the Dog Biomedical Variant Database Consortium (DBVDC) and present a comprehensive list of functionally annotated genome variants that were identified with whole genome sequencing of 582 dogs from 126 breeds and eight wolves. The genomes used in the study have a minimum coverage of 10× and an average coverage of ~24×. In total, we identified 23 133 692 single-nucleotide variants (SNVs) and 10 048 038 short indels, including 93% undescribed variants. On average, each individual dog genome carried ∼4.1 million single-nucleotide and ~1.4 million short-indel variants with respect to the reference genome assembly. About 2% of the variants were located in coding regions of annotated genes and loci. Variant effect classification showed 247 141 SNVs and 99 562 short indels having moderate or high impact on 11 267 protein-coding genes. On average, each genome contained heterozygous loss-of-function variants in 30 potentially embryonic lethal genes and 97 genes associated with developmental disorders. More than 50 inherited disorders and traits have been unravelled using the DBVDC variant catalogue, enabling genetic testing for breeding and diagnostics. This resource of annotated variants and their corresponding genotype frequencies constitutes a highly useful tool for the identification of potential variants causative for rare inherited disorders in dogs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.