Scientific publications
Continuous research fuels our best-in-class tests.
Explore articles written by our team of scientists on the research that's driving new insights into genetic diversity, disease, trait variants, and more.
IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta
Variant classification guidelines for animals to objectively evaluate genetic variant pathogenicity
A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz
Exonic SINE Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd
Frequency of RPGRIP1 and MAP9 genetic modifiers of canine progressive retinal atrophy, in 132 breeds of dog
New coat color pattern "salmiak" in felines
Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines
Association of FGF4L1 Retrogene Insertion with Prolapsed Gland of the Nictitans (Cherry Eye) in Dogs
Canine coat color E locus updates: Identification of a new MC1R variant causing ‘sable’ coat color in English Cocker Spaniels and a proposed update to the E locus dominance hierarchy
Global Frequency Analyses of Canine Progressive Rod-Cone Degeneration–Progressive Retinal Atrophy and Collie Eye Anomaly Using Commercial Genetic Testing Data
Association of the FGF4L2 retrogene with fibrocartilaginous embolic myelopathy in dogs
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs
A loss‑of‑function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats
The effect of inbreeding, body size and morphology on health in dog breeds
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs
A putative silencer variant in a spontaneous canine model of retinitis pigmentosa
Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs
True colours: commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential
TSEN54 missense variant in standard Schnauzers with leukodystrophy
NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia
Whole genome sequencing of giant Schnauzer dogs with progressive retinal atrophy establishes NECAP1 as a novel candidate gene for retinal degeneration
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
Heterozygosity testing and multiplex DNA panel screening as a potential tool to monitor health and inbreeding in a small, closed dog population
Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011-2012)
An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Valhund dogs
Founder representation and effective population size in old versus young breeds-genetic diversity of Finnish and Nordic Spitz
Homozygous PPT1 splice donor mutation in a Cane Corso dog with neuronal ceroid lipofuscinosis
Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants of canine hereditary disorders
A novel genome-wide association study approach using genotyping by exome sequencing leads to the identification of a primary open angle glaucoma associated inversion disrupting ADAMTS17
Two independent mutations in ADAMTS17 are associated with primary open angle glaucoma in the Basset Hound and Basset Fauve de Bretagne breeds of dogs
Genome wide analysis indicates genes for basement membrane and cartilage matrix proteins as candidates for hip dysplasia in Labrador Retrievers
Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed
Our Partners
