Fig 1.
Presence and distribution of 152 Mendelian disease alleles in 101,322 dogs.
(A) Frequency distribution of the tested variants highlights a majority of individual disease alleles as absent or rare on a general population level, and a subset of more prevalent disorders. (B) Venn diagram summary of the distribution of disease variants across mixed breed, and purebred dogs. The majority of disorders (N = 80) were observed at least once in both mixed breed and purebred dogs. Other disorders were exclusively observed in either group. Twenty-five of the studied disease variants were not observed in any dog studied. For details on specific disorders and their allele counts, please refer to S3 and S4 Tables.
Table 1.
Distribution of Mendelian disease variant presence based on 152 known mutations genotyped in 96,514 dogs.
Table 2.
Top 30 most frequently observed disease variants in mixed breed dogs.
Fig 2.
Patterns of common recessive disease variant presence in 96,673 dogs.
(A) Comparison of 83,220 mixed breed dogs and 13,453 purebred dogs revealed that mixed breed dogs were significantly more likely to carry one or several of nine examined common largely recessive disease variants in the heterozygous state. (B) Conversely, dogs of the combined purebred sample were more likely to be genetically affected for one of the examined disorders, i.e. carry at least one recessive disease variant in the homozygous state.
Fig 3.
A proposed standard operating procedure for handling mutation discoveries in additional breeds.
Table 3.
Summary of disease variant findings in additional breeds.
Table 4.
Summary of von Willebrand factor (VWF) measurements in dogs at putative genetic risk.