Predicted genetic burden and frequency of phenotype-associated variants in the horse.

Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted deleterious variants that healthy individuals carry (predicted genetic burden).

A Functional Single-Nucleotide Polymorphism Upstream of the Collagen Type III Gene Is Associated with Catastrophic Fracture Risk in Thoroughbred Horses.

Fractures caused by bone overloading are a leading cause of euthanasia in Thoroughbred racehorses. The risk of fatal fracture has been shown to be influenced by both environmental and genetic factors but, to date, no specific genetic mechanisms underpinning fractures have been identified. In this study, we utilised a genome-wide polygenic risk score to establish an in vitro cell system to study bone gene regulation in horses at high and low genetic risk of fracture.

Genetic Variation and the Distribution of Variant Types in the Horse.

Genetic variation is a key contributor to health and disease. Understanding the link between an individual's genotype and the corresponding phenotype is a major goal of medical genetics. Whole genome sequencing (WGS) within and across populations enables highly efficient variant discovery and elucidation of the molecular nature of virtually all genetic variation.

Comparison between smartphone electrocardiography and standard three-lead base apex electrocardiography in healthy horses.

Background: Cardiac arrhythmias are commonly auscultated during routine physical examinations in horses and determining the underlying electrical abnormality using an ECG is important. The most commonly used device is a three-lead base apex system (Televet), however few practitioners carry this for routine visits. With recognition of the utility of smartphone-based ECGs in humans, dogs and ruminants, the AliveCor single-lead bipolar smartphone-based ECG has gained popularity.

Diagnosis and treatment of confirmed and suspected primary hyperparathyroidism in equids: 17 cases (1999-2016).

Background: Primary hyperparathyroidism is uncommon in equids.

Objectives: To describe the diagnostic findings and efficacy of treatment in equids with primary hyperparathyroidism.

Study Design: Retrospective case series describing 16 horses and one mule.