Whole genome sequencing of Swedish Giant Schnauzers with and without hypothyroidism

In this study, we sought to identify the genetic risk factors potentially involved in the susceptibility to hypothyroidism in the high-risk Giant Schnauzer dog breed. After performing a genome-wide association (GWA) analysis that identified a locus associated with protection against canine hypothyroidism, we performed Illumina pair-end short reads whole genome re-sequencing for individuals (n=23) representing the key haplotypes as previosuly detected. 3 dogs were sequenced at high coverage, while 20 dogs at low coverage. The re-sequencing data generated in this study proved to be essential for the fine-mapping of the protective locus identified by GWA analysis and for the discovery of a structural variant strongly associated with protection against canine hypothyrodism.