Author:
Durward-Akhurst S. A.,Marlowe J. L.,Schaefer R. J.,Springer K.,Grantham B.,Carey W. K.,Bellone R. R.,Mickelson J. R.,McCue M. E.
Abstract
AbstractDisease-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.
Funder
USDA NIFA-AFRI
The American Quarter Horse Association
University of Minnesota Multistate grant
American College of Veterinary Internal Medicine Foundation fellowship
Office of Research Infrastructure Programs, National Institutes of Health
Elaine and Bertram Klein Development Award
Morris Animal Foundation
Publisher
Springer Science and Business Media LLC
Cited by
2 articles.
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