Pedigree-tracking improved population monitoring of recessive disease-causing alleles in pedigreed canine populations

Probabilistic pedigree inference using unknown parent groups in five RKC-registered pedigrees estimates disease-causing allele frequencies for PLL and PRA-rcd4, with 2020 values up to 0.092 higher than test-only approaches.

• Why it matters: Current canine monitoring often uses only partial pedigree information because many dogs lack genetic test results or hereditary status, limiting accurate tracking of recessive disease alleles.
• What they did: The method estimates genotype probabilities for all individuals from available genetic tests for PLL and PRA-rcd4, then derives allele-frequency trends and evaluates inference via leave-one-out cross-validation and gene-drop simulations.
• The result: Correlations between true and estimated allele dosages ranged from 0.47 to 0.67 across breeds, and simulations suggest retrospective underestimation—especially for dogs born before 1990—enabling more comprehensive monitoring for breeding decisions.

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