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Low-Pass Whole-Genome Sequencing and Imputation to Improve Power for Genome-Wide Association Study of Canine Hip Dysplasia

Principal Investigator: Jessica Hayward

Co-PI: Adam Boyko, Rory Todhunter

Department of Biomedical Sciences
Sponsor: Cornell University Center for Vertebrate Genomics
Title: Low-Pass Whole-Genome Sequencing and Imputation to Improve Power for Genome-Wide Association Study of Canine Hip Dysplasia
Project Amount: $20,000
Project Period: January 2023 to December 2023

DESCRIPTION (provided by applicant):

Canine hip dysplasia (CHD) is the most common developmental orthopedic trait in dogs. It is characterized by laxity of the hip soft tissues which include the fibrous joint capsule, the round ligament of the femoral head, the acetabular labrum, and the transverse acetabular ligament. If the hip soft tissues do not support the femoral head firmly against the acetabular surface throughout development, a dysplastic joint forms. CHD results in osteoarthritis, which causes pain and disability in the affected hip. Dogs that do not respond well to medical management may require surgery; either excising the femoral head or a total hip replacement. Both procedures are invasive and carry risk.

In this proposed research we will use an advanced genomics approach to identify loci underlying canine hip dysplasia in the golden retriever. We have three related specific aims:


Specific aim 1: to use low-pass whole-genome sequencing followed by imputation in a cohort of 190 golden retrievers to create an imputation resource.


Specific aim 2: to determine the accuracy of this imputation pipeline from aim 1 by comparing those imputed variants in the 100 dogs that have been previously directly genotyped on a 183k canine array.


Specific aim 3: to use the imputed variants from the sequence data generated in aim 1 to perform a quantitative GWAS for hip dysplasia in the golden retriever.