Project information

Common Infrastructure for National Cohorts in Europe, Canada and Africa (CINECA)

Large human cohort studies are now deriving from both research projects and national healthcare initiatives. The long term value of these cohorts is the deep and comprehensive longitudinal phenotyping, the basis for making novel disease association discoveries and collection of deep phenotypes and molecular data for diseases such as rare cancers. The rapid advances in molecular biology techniques such as DNA genotyping, sequencing, has enabled thousands of human genomes to be generated. We are on the cusp of routine deployment of genome sequencing technologies in clinical practice. In Europe and Canada, we are already seeing the emergence of national healthcare funded projects aiming to sequence hundreds of thousands of human genomes (e.g. Genomics England, France Genomique). However, healthcare is subject to more regulation and structure than research data. Therefore it is highly unlikely that this data will leave the jurisdiction in which it was generated, presenting new challenges for reuse in research and clinical applications. Organisations such as The Global Alliance for Genomics and Health (GA4GH) have been established to develop standards to enable responsible and effective sharing of genomic and clinical data in a way that is as interoperable as the World Wide Web. The CINECA consortium will create one of largest cross-continental implementations of the GA4GH standards to date. The partners represent a unique combination of eleven cohorts and the European Genome-phenome Archive consisting of hundreds of thousands of human participants from across Canada, Europe, and Africa. CINECA will implement federated data discovery, automated access to data across international cloud infrastructure, standard and meta data representation for samples and individuals, and the necessary ELSI framework supporting data exchange across legal jurisdictions enabling federated analyses in the cloud. CINECA will benefit the human genetics and clinical genetics research through enhanced discovery and access to human cohorts across Europe, Canada, and Africa.

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