Cathryn S. Mellersh

The paper uses probabilistic inference in pedigreed canine populations to estimate disease-causing allele frequencies more comprehensively than genetic tests alone, showing improved monitoring of recessive diseases.

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.

The paper identifies a loss-of-function mutation in the ABCA4 gene in Labrador retrievers with retinal degeneration, suggesting dogs as a model for human Stargardt disease.