Cross-species obsessive compulsive disorder (OCD) and Evolutionary Constraint Analysis

NAISS 2023/6-274


NAISS Medium Storage

Principal Investigator:

Matteo Bianchi


Uppsala universitet

Start Date:


End Date:


Primary Classification:

30107: Medical Genetics



We aim to generate population level variation (single base) data for >2000 breed dogs. This is a collaborative project between multiple centers in Europe and US. We plan to use the data generated by the Darwin’s Ark project (PMID:35482869) to map additional canine compulsive disorder (CCD) loci. The Uppsala node expects to process ~7 TB of sequencing raw data, including a new alignment to the new dog genome assembly generated by our lab (UU_Cfam_GSD_1.0) (PMID:33568770), variant calling calling and filtering, as well as genetic imputation. The obtained clean genetic data will then be used to seek for additional CCD risk loci, through single variant association and gene-based aggregate tests. Employing human summary statistics (non-sensitive aggregate data) derived from existing human OCD GWAS and gene-based aggregate tests, we plan to perform cross-species meta-analysis. We also plan to use Zoonomia mammalian constraint ( to identify candidate functional variants within both canine and human regions of association. The rationale of this project has its core in health and medicine, focusing on both the dog itself and on the dog as a model for human health. It is expected that this data will lead the identification of functionally important genes and variants in the context of CCD and the human counterpart of the disease.