Beyond 1 Million Genomes (B1MG) D7.2 Catalogue of met and unmet use case WGs requirements - 2v0

The 1+MG Use Case WGs leads and experts have continued to direct the B1MG WP activities in the last 10 months. Their contributions remain critical to determine the resulting infrastructure needs as well as analysing the final solutions and how they support the various scenarios.

This deliverable builds on previous informal and formal work, as well as contributions from other project and initiative activities:

• 1+MG use cases working group meetings
• Workshop to identify health care scenarios across 1+MG WGs
• Workshop to identify research scenarios across 1+MG WGs
• B1MG Operational group meetings (1+MG WGs & B1MG WP)
• Stakeholders forum outcomes
• 1+MG Group meetings
• Beacon V2 GA4GH/ELIXIR

This deliverable contains the second formal snapshot of the 1+MG use case WGs' requirements and current implementation state, which was gathered directly as part of the B1MG project. This inventory of met and unmet needs for use case WGs will be used to drive infrastructure development and prioritise future 1+MG infrastructure actions. 1+MG WGs will evaluate successful requirement implementation to ensure that the final 1+MG infrastructure is fit for purpose.

Since the last deliverable, Beacon V2  has now been approved and now supports gene and phenotype/disease/treatment queries which has allowed for the P.o.C. being expanded to include the Cancer Use Case.

Through formal presentations to to the 1+MG CG and B1MG WP leads monthly meeting the WG leads for Rare Disease, Cancer and Infectious Disease have presented their current status, their thoughts for what they would like to achieve in the next two years, and highlighted what assistance they believe they will need from the various working groups in order to attain these. The Common and Complex Disease working group are due to present to this group in January 2023.

Finally, after consultation with WP4  and  GDI Pillar II we have chosen to store and track the unmet requirements through the use of both Zenhub and GitHub. Broadly speaking, Zenhub will be utilised to track the high level overview of the unmet use case requirements e.g cBioPortal cannot currently be used in the Cancer P.o.C. Meanwhile, developers will then take these high level issues and break them down into fine grained "issues" and track them within GitHub which will be worked on in a prioritised fashion to either "fix" the unmet requirement or seek alternative solutions. By working in this fashion we can see the multiple steps needed to resolve a high level issue and anticipate likely time to resolve/find alternative solutions.