title: Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array.
abstract: BACKGROUND
  Substantial contribution to phenotypic diversity is accounted for by copy number variants (CNV). In human, as well as other species, the effect of CNVs range from benign to directly disease-causing which motivates the continued investigations of CNVs. Previous canine genome-wide screenings for CNVs have been performed using high-resolution comparative genomic hybridisation arrays which have contributed with a detailed catalogue of CNVs. Here, we present the first CNV investigation in dogs based on the recently reported CanineHD 170 K genotyping array. The hitherto largest dataset in canine CNV discovery was assessed, 351 dogs from 30 different breeds, enabling identification of novel CNVs and a thorough characterisation of breed-specific CNVs.
  
  
  RESULTS
  A stringent procedure identified 72 CNV regions with the smallest size of 38 kb and of the 72 CNV regions, 38 overlapped 148 annotated genes. A total of 29 novel CNV regions were found containing 44 genes. Furthermore, 15 breed specific CNV regions were identified of which 14 were novel and some of them overlapped putative disease susceptibility genes. In addition, the human ortholog of 23 canine copy number variable genes identified herein has been previously suggested to be dosage-sensitive in human.
  
  
  CONCLUSIONS
  The present study evaluated the performance of the CanineHD in detecting CNVs and extends the current catalogue of canine CNV regions with several dozens of novel CNV regions. These novel CNV regions, which harbour candidate genes that possibly contribute to phenotypic variation in dogs or to disease-susceptibility, are a rich resource for future investigations.
authors.affiliation: Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden. Anna-Maja.Molin@imbim.uu.se.
authors.forename: Anna-Maja
authors.initials: AM
authors.lastname: Molin
authors.forename: Jonas
authors.initials: J
authors.lastname: Berglund
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Webster
authors.forename: Kerstin
authors.initials: K
authors.lastname: Lindblad-Toh
mesh_terms: D000818:Animals; D056915:DNA Copy Number Variations; D004198:Disease Susceptibility / Q000378:metabolism; D004285:Dogs; D017353:Gene Deletion; D020440:Gene Duplication; D016678:Genome; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D020641:Polymorphism, Single Nucleotide