ELIXIR-CONVERGE D7.1 Report of use-cases and architecture for the EGA federation

The COVID-19 pandemic has amplified the need for rapid international discovery, access, and sharing of human host genetic and phenotype data, which can be met by accelerating the formation, development, governance, and deployment of the Federated EGA. Here, we  collaborated with engaged potential national nodes to establish the needs and national use-cases the nodes intend to address by becoming a part of the Federated EGA network. To achieve this goal, we created a survey (Appendix 1) to gather direct feedback on national use cases for supporting a Federated EGA network. The use case survey was announced at ELIXIR Federated Human Data meetings and Federated EGA Committee meetings, and shared directly with the first 12 interested nodes, 3 of which completed the survey in time for this report (Table 1). New interested nodes will be provided the survey, and responses from additional surveys will be incorporated as they are completed. Survey responses were analysed for common themes and organised into broader categories to share with other WP7 partners and Federated EGA Committee members. The surveys highlighted a largely overlapping set of use cases and requirements that were organised into “themes” including: regulatory themes (“Governance”, “Node Policies and GDPR”), technical themes, (“Data Management and Standards”, “Technical Infrastructure”, “Production Services”), and support themes (“Operations Support”, “Communications, Community Building, and Engagement”). Each theme includes specific use cases which can be supported by a Federated EGA network through: forming permanent committees and ad hoc working groups, encouraging the use of global and community standards, establishing guidelines for what data/metadata can and cannot be shared within the network, and coordinating on shared approaches and strategies. The results outlined here are key to informing all aspects of establishing the Federated EGA and will directly contribute to technical implementation plans (developed as part of Task 7.2), the minimal FEGA metadata model (developed as part of Task 7.3), and the Federated EGA Node Maturity Model (developed as part of Task 7.4).