Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery

Genomics4RD is an integrated, web-accessible platform for sharing Canadian phenotypic and multiomic rare-disease data between researchers nationally and internationally. It standardizes data collection and processing while helping users collect, prioritize, and visualize participant information. Its storage, authorization, and access procedures were developed with policy experts and stakeholders to support trusted external research access. The breadth and standardization of the platform enable rare-disease matchmaking, computational multiomic analyses, and the clinical translation of emerging genetic technologies.

Human Mutation, 43(6), 800–811