GDI Deliverable D7.4: 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.

Substantial progress has been made, including the successful submission of the Genome of Europe proposal, advancements in defining minimal datasets for Infectious Diseases and Cancer, and the development of prototypes for Genome-wide association studies (GWAS).

Challenges such as accommodating diverse dataset standards and clarifying basic data standards within GDI require ongoing dialogue and collaboration. Balancing standard adoption with cost considerations remains crucial.

Lastly, standardisation, interoperability, and collaborative frameworks positions are a priority in GDI and efforts towards this goal will continue.