Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.

ABSTRACT: Hundreds of genetic variants implicated in Mendelian disease have been characterized in dogs and commercial screening is being offered for most of them worldwide. There is typically limited information available regarding the broader population frequency of variants and uncertainty regarding their functional and clinical impact in ancestry backgrounds beyond the discovery breed. Genetic panel screening of disease-associated variants, commercially offered directly to the consumer or via a veterinary clinician, provides an opportunity to establish large-scale cohorts with phenotype data available to address open questions related to variant prevalence and relevance. We screened the largest canine cohort examined in a single study to date (1,054,293 representative dogs from our existing cohor

SUBMITTER: Donner J 

PROVIDER: S-EPMC9997962 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature