ArticleScientific reports2024
Predicted genetic burden and frequency of phenotype-associated variants in the horse.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed.
- A Comprehensive Analysis of the Agreement and Performance of Variant Annotation Programs in Equine Genomes.Genes · 2026Article
- Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits.Evolutionary applications · 2026Review
- Whole Genome Data Uncover the Complex Origins of Polish Konik Horses.Animals : an open access journal from MDPI · 2026Article
- Equine models in translational medicine: A comparative approach to human health.Animal models and experimental medicine · 2026Review
- Review: Genomic insights into the adaptive traits and stress resistance in modern horses.Stress biology · 2026Review
- A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.Scientific reports · 2025Article
- Genetic influence of a STAU2 frameshift mutation and RELN regulatory elements on performance in Icelandic horses.Scientific reports · 2025Article
- Myosin Heavy Chain Myopathy and Immune-Mediated Muscle Disorders.The Veterinary clinics of North America. Equine practice · 2025Review
- Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid.Animals : an open access journal from MDPI · 2025Article
- Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Review
- Analyses of whole-genome sequences from 185 North American Thoroughbred horses, spanning 5 generations.Scientific reports · 2024Article
- Article
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Authors and funding
9 authors.
Funding
Abstract
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). Estimation of the predicted genetic burden and baseline frequencies of known deleterious or phenotype associated variants within and across the major horse breeds have not been performed. We used WGS of 605 horses across 48 breeds to identify 32,818,945 variants, demonstrate a high predicted genetic burden (median 730 variants/horse, interquartile range: 613-829), show breed differences in predicted genetic burden across 12 target breeds, and estimate the high frequencies of some previously reported disease variants. This large-scale variant catalog for a major and highly athletic domestic animal species will enhance its ability to serve as a model for human phenotypes and improves our ability to discover the bases for important equine phenotypes.
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