On 22 September 2026, Giovanni Delussu, a researcher in CRS4’s Visual and Data-Intensive Computing sector, presented the centre’s latest results on the integration of clinical and genomic data in Amsterdam, at openEHR’s international EHRCON26 conference.
Integrating genomic information with Electronic Health Record (EHR) data offers new ways to understand disease heterogeneity, identify biomarkers and therapeutic targets, and predict disease risk, contributing to improved clinical decision-making and large-scale biomedical research.
One of CRS4’s latest results in this field was presented at EHRCON26, held in Amsterdam on 22 and 23 September 2026. In his talk, Bridging Genomics and Clinical Care: the vcf2openehr Tool, Giovanni Delussu presented a new tool that enables bioinformatics analysis results to be rapidly and efficiently transformed into the open format for electronic health records defined by openEHR International.
In this field, CRS4’s Visual and Data-Intensive Computing sector has extensive experience in modelling and standardising clinical and genomic data, with the aim of improving their analysis and reuse in healthcare and research settings and making the most of the valuable information collected through the widespread adoption of EHR systems, including through state-of-the-art AI-based tools.
The CRS4 team that developed the tool, comprising Giovanni Delussu, Cecilia Mascia and Francesca Frexia, collaborated with domain experts Paolo Uva and Marta Rusmini from the Clinical Bioinformatics Unit of the IRCCS “G. Gaslini”, within the framework of the LIFEMap project. By combining clinical and genomic data, the project aims to identify pathological and sub-pathological conditions in children and/or predictive genetic profiles associated with an increased risk of serious diseases in adulthood.
This work continues CRS4’s commitment to structuring genomic information, which began with the development of the first genomic models for openEHR and the establishment of the openEHR Genomics Project, as part of openEHR International’s clinical modelling programme.
The activities presented build on established CRS4 research lines and have received funding through the LIFEMap project (PSC Salute – FSC 2014-2020 – Traiettoria 3-Medicina rigenerativa, predittiva e personalizzata), ToPMa (Intervention RP_CRP_077, funded through FSC 2014-2020 resources – Patto per lo Sviluppo della Regione Sardegna) and XDATA (Contribution pursuant to Art. 9 of Regional Law 20/2015, RAS SR, Institutional Project).
