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

PLoS genetics - 1 Feb 2023

Donner Jonas, Freyer Jamie, Davison Stephen, Anderson Heidi, Blades Matthew, Honkanen Leena, Inman Laura, Brookhart-Knox Casey A, Louviere Annette, Forman Oliver P, Chodroff Foran Rebecca

Abstract excerpt

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...

Topics

Dogs
Humans
Animals
Prevalence
Clinical Relevance
Genetic Testing
Gene Frequency
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36848397
DOI: 10.1371/journal.pgen.1010651
PMCID: PMC9997962

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