Use cases

This section outlines scenarios in which the project’s infrastructure can make a significant impact, and are intended to guide the development of the project’s infrastructure and inform its priorities.

Cancer

The Cancer Use Case has been the secondary use case to test the 1+MG Infrastructure. Although a work still in progress it has been acknowledged that the architecture largely supports the Cancer Use Case in its current format.

Common and complex diseases

The Common and Complex Disease Use Case are focussing on the development of a national-focussed decision support software based on Polygenic Risk Scores (PRS) results.

Infectious diseases

The Infectious Disease Use Case aims to strengthen European preparedness against future pandemics.

Population Genomics - Genome of Europe (GoE)

The Genome of Europe project was created to have a Europe-wide collection of subgroup-specific reference genomes to support population genomics and make precision medicine more robust.

Rare diseases

The rare disease use case has been the central use case demonstrating the 1+MG Infrastructure to date.

Use case demonstrator package

This deliverable focuses on creating a use case demonstrator package, which includes an initial set of data collections tailored for specific use case scenarios within the European Genomic Data Infrastructure (GDI). Given the current lack of real data in the GDI nodes, efforts were concentrated on gathering synthetic and other available real data that closely align with intended use cases to facilitate comprehensive testing of the GDI infrastructure.

Report to identify the initial set of relevant data for use cases

Establishing minimal datasets and standards within GDI facilitates seamless data exchange, driving innovation in healthcare and improving patient outcomes. Deliverable 7.4 encapsulates the collaborative efforts of GDI, 1+MG, and B1MG initiatives towards establishing minimal datasets and standards for genomic data exchange and integration. Efforts focused on leveraging prior work from 1+MG and B1MG initiatives to define minimal datasets for GDI use cases, particularly in Cancer, Infectious Diseases and the Genome of Europe. Collaborative refinement processes ensured comprehensive standards adherence.