Genetic Basis of Hip Dysplasia in Dogs as a Model for Developmental Dysplasia of the Hip in Humans
I am excited to announce that I have successfully defended my PhD thesis in genomic bioinformatics at the University of Rennes, France.
Over the past few decades, dogs (Canis lupus familiaris) have become a valuable model for studying complex genetic diseases, thanks to their phenotypic diversity, the result of ancient domestication and intense artificial selection leading to over 400 modern breeds, which can be considered as genetic isolates.
This thesis focuses on canine hip dysplasia (CHD), a multifactorial joint development disorder homologous to developmental dysplasia of the hip (DDH) in humans. More than 700 dogs were sequenced at low coverage and then imputed to identify loci associated with CHD through genome-wide association studies (GWAS).
Two bioinformatics tools were developed as part of this work:
- The R package Pedixplorer, for exploring complex pedigrees.
- The nf-core/phaseimpute pipeline, for genotype imputation.
By combining intra- and inter-breed GWAS, functional annotations, and comparisons with previous human and canine studies on hip dysplasia, we identified about twenty candidate loci. This work, in partnership with the ACGAO and VISIO Foundation, paves the way for a future genetic risk test, which will be further developed in upcoming research.
Jury:
- Rapporteurs: Hervé Perdry, Laurent Tiret
- Examiner: Sarah Djebali
- President: Emmanuelle Génin
- Thesis Director: Catherine André
- Co-supervisor: Pascale Quignon