GDI D3.6 Video demonstrator showing data access based on a pillar III use case

This deliverable references and adds detail to Milestone 8 (Incremental Demonstrator) which demonstrates secure cross border access to genomic and phenotypic data for a GDI use case., adding use case specific workflows and utility to previous demonstrators, such as Milestone 7. The milestone demonstrated both a Cancer and Infectious disease use case, as well as an Allele Frequency browser which supports use cases from pharmacogenomics, rare disease, and public health screening. 

The cancer disease use case has been demonstrated by discovering, applying and being granted access to synthetic cancer data, and subsequently performing an analysis on these data in a secure processing environment using cBioPortal. The infectious disease use case has been demonstrated by using the Allele Frequency browser to gain information on a genomic variant possibly associated with severe Covid-19, and as a stretch goal, by discovering, applying for, and being granted access to synthetic infectious disease data, and performing a remote GWAS analysis on these data to identify a range of variants which have an association with Covid-19 severity.  These use cases show how this infrastructure can support the use of a use case specific data analysis platform, provide allele frequency data relevant to a range of use cases, and support investigation of both polygenic and monogenic disease.

The milestone was demonstrated by two presentations given at the GDI General Assembly in Lisbon in November 2024, and by two recorded videos, one for the Cancer use case and one about the Allele Frequency browser.

A total of six nodes participated in the milestone, each participating in their chosen use case.