Thursday, 27th April, 2023, 12:00

PSMAR multi-omics and clinical data integration: cBioPortal experience

PRBB Computational Genomics Seminar. Chair: TBC

Next-generation sequencing (NGS) has revolutionized medicine as it can provide extremely detailed molecular profiles, allow for risk prediction, aid in diagnosis and guide personalized treatments. The detection of mutations and patterns of gene expression has become a common practice for many patients of the Parc de Salut Mar (PSMAR). This information is very valuable, as it helps patients get the appropriate diagnosis and treatment, but it can be as important for future reanalysis and secondary research use. Hence, guaranteeing that these data remain easily accessible and interoperable by the clinical and scientific community is of vital importance.

With this idea, the PSMAR initiated a pilot project for the deployment of a private instance of the cBioPortal platform with an historical cohort (2014-2022) of lung adenocarcinoma patients diagnosed at our hospital. This cohort consists of mutation profiles integrated with the clinical data from IMASIS-2 database, which gathers and harmonizes different information sources of the PSMAR. This pilot project has allowed us to demonstrate the feasibility of this integration and its potential for the management of lung adenocarcinoma patients.

In this talk I will present the development of this pilot project and I will elaborate on the critical issues and synergies with parallel initiatives on genetic data interoperability, secondary use and sharing. I will discuss potential uses of such effort and the future directions of the initiative.

Zoom webinar: https://us02web.zoom.us/webinar/register/WN_BmCslCIdTBOd9l0jNiuhog

Speaker: Julia Perera, Bioinformatics Unit. GRIB. MARGenomics, IMIM

Room Online