Canadian Open Genetics Repository (COGR)
Launched in 2012 with funding from Genome Canada, the COGR is a unified and centralized genomic database and community resource for standardizing and sharing genetic interpretations and phenotypic information as reported by Canadian diagnostic laboratories. The first national database of its kind, this initiative will address several barriers facing Canadian researchers: the lack of local resources for storing and sharing data, the labour-intensive nature of variant interpretation and the reliance by diagnostic labs on a range of different and incompatible software applications. This infrastructure will allow us to centralize genetic data from laboratories across Canada, develop automation for the routine transfer of data holdings, increase our understanding of variant effects, and create quality assurance procedures that reduce discordant variant classifications.
Canadian Genome Aggregation Database (gnomAD-Canada)
Building on the success of the Genome Aggregation Database from the Broad Institute, gnomAD-Canada aims to provide a comprehensive resource for population-wide allele frequencies specific to Canada. Managed by a dedicated Canadian team, this platform will compile genetic variation data from 60,000 Canadian genomes, including those from historically underrepresented populations. By adding phenotype information, increasing sample size and ancestral diversity, gnomAD-Canada will improve the diagnosis of rare conditions.
As a participating site in the Federated gnomAD project, gnomAD-Canada will process and quality control its data according to gnomAD best practices and contribute aggregate allele frequency data to the global gnomAD resource, ensuring secure, policy-compliant sharing with the broader scientific and clinical community.
Tools for Rare Disease Research
Despite improved diagnostic methods like genome sequencing, most rare disease (RD) patients live without a diagnosis. In order to improve our scientific understanding of genetic variation and genotype-phenotype relationships, researchers need better data-sharing and collaboration tools to establish large cohorts with linked genome and clinical phenotype information. To accelerate RD research in Canada, we will deploy seqr-Canada, based on the open-source tool seqr, a web-based multi-omics analysis software with the ability to share data through Matchmaker Exchange (MME). MME is a federated network of global databases accessible by API-based queries which enable RD gene discovery. This infrastructure will advance data-sharing and RD research in Canada, maximize the value of existing clinical cohorts, and facilitate international collaboration and gene-discovery research. The CGDC will explore and adopt other software solutions that are advancing clinical research applications and that promise to improve the health of Canadians.