Canada’s ultimate rare disease research platform.
A data lake for rare disease research.
Canada has a lot of lakes, more than every other country in the world combined, in fact.
Genomics4rd is the first Canada-wide data lake for rare disease, providing a centralized repository of structured and unstructured data from thousands of participants to improve care for rare disease families. You can’t canoe across this lake, but it will power rare disease research and personalized medicine across the country.
3,000+ cases
More than one Canadian family a day being entered across multiple research projects
Diverse clinical and multi-omic data
Structured phenotype and family history data linked to their available multi-omic datasets
Computer-readable data-use restrictions
ADA-M and consent codes determine data discoverability and access
Linkage to international datasets
Capitalizes on the power of rare disease matchmaking through linkages with PhenomeCentral
Governance and Data Access
Genomics4RD is an initiative of the Care4Rare Canada Consortium.
Researchers have different levels of access to the data depending on their identity and proposed uses, and how the patients said their data could be used.
This is formalized in the Genomics4RD Governance Framework, developed by P3G.
Open
Public Access
Aggregated phenotypes and novel candidate genes, general statistics
Registered
Registered Access Members
Individual-level variants, processed -omics data, phenotype descriptions, and family history
Controlled
Vetted research projects
Full access to structured and unstructured data, raw sequence, outcomes
