CINECA GDPR and FAIR compliant Diagnostic Services D5.3

D5.3 demonstrates tying together the technical ideas and research developed in CINECA into accessible, end-user applications - removing the need to have deep technical understanding of the various components. In this case the tools are applied to identifying pathological - and thus clinically-relevant - variants.

This deliverable shows the final steps in the application of the CINECA tools where the relevant datasets have been discovered and combined using CINECA federated tools to generate a larger variant database to drive more accurate conclusions. Additionally, variant databases could be created and validated that are more tuned to diagnostics in non-caucasian populations that have historically been under-represented in reference data - a problem that tools such as those developed in CINECA/GA4GH would hope to reduce in future.