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. The gnomAD-Canada database was created as part of the Canadian Genomic Data Commons (CGDC) and the Pan-Canadian Genome Library (PCGL).

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.

All of the raw data from contributing gnomAD-Canada project is processed through equivalent pipelines, quality controlled (QC), and jointly variant-called to increase consistency across projects. These pipelines are implemented in Python using the Hail framework, a scalable platform for genomic data analysis that leverages batch computing. The gnomAD-Canada v1.0 release uses 10,487 genomes from the HostSeq project. It is available publicly via download for the benefit of the wider biomedical community. For terms of use and other policies please see our policy page.

The aggregation and release of summary data from the genomes for gnomAD-Canada has been approved by the Sinai Health Research Ethics Board, Mount Sinai Hospital (Project: “The Canadian Genomics Data Commons”) and the HostSeq DACO.