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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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Details
1 University of Minnesota, Department of Veterinary Clinical Sciences, St. Paul, USA (GRID:grid.17635.36) (ISNI:0000 0004 1936 8657)
2 University of Minnesota, Department of Veterinary Population Medicine, St. Paul, USA (GRID:grid.17635.36) (ISNI:0000 0004 1936 8657)
3 Interval Bio LLC, Mountain View, USA (GRID:grid.17635.36)
4 University of California-Davis, Veterinary Genetics Laboratory, School of Veterinary Medicine, Davis, USA (GRID:grid.27860.3b) (ISNI:0000 0004 1936 9684); University of California, Population Health and Reproduction and Veterinary Genetics Laboratory, School of Veterinary Medicine, Davis, USA (GRID:grid.27860.3b) (ISNI:0000 0004 1936 9684)
5 University of Minnesota, Department of Veterinary and Biomedical Sciences, St. Paul, USA (GRID:grid.17635.36) (ISNI:0000 0004 1936 8657)