Obtaining a diagnosis is the starting point for anyone suffering from a rare disease: it allows you to give a name to your disease, to identify other similar cases in the world, to have information to manage everyday life and the emergency. In this field, the study of DNA is increasingly important, but the analysis of the exome, the informative portion of our genetic heritage, is very complex and can take several months.

CSI, together with the University of Turin (Department of Medical Sciences - Medical Genetics for genomic data analysis and nephrolology field, Department of Clinical and Biological Sciences - Nephrology for the clinical scope related to the management of rare diseases), ISI Foundation and GenomSys company, is working on a research project that can help in the diagnosis and treatment of rare diseases: the project uses advanced technologies for the rapid and effective reading of the genome and develops artificial intelligence algorithm to analyse genetic data and provide information for the design of targeted diagnosis and treatment pathways.

The experimentation foresees:

• testing of the open compression standard ISO MPEG-G, developed to support the archiving, transmission and analysis of genome sequencing data
• testing of advanced analysis tools to support the diagnosis and research process starting from sequencing data treated with MPEG-G standard
• use of CSI infrastructure, the Nivola cloud and the Yucca smart data platform, in a federated system for data processing and analysis.

The results of the research might give rise to new services within the Regional health services ecosystem.