Fondazione IRCCS Policlinico San Matteo, Pavia (IT)
Friday, 01 January 2010
The INHERITANCE project (Integrated Heart Research In Translational Genetics of Cardiomyopathies in Europe) is a multy-disciplinary, multi-centre research project funded by the European Commission, involving University of Pavia. The main task of the project is to investigate the molecular basis of Inherited Dilated cardiomyopathies (DCM) and to understand the impact and management of the condition within families that suffer from DCMs. Figure 1 shows the data analysis architecture of the project. The patients’data collected by the clinical centers, are periodically uploaded, with an automatic procedure, into a data warehouse based on the i2b2 software system. The data are then made available to the researchers through a data mining and exploration tool. Literature is analyzed through a text mining strategy based on Natural Language Processing (NLP). Finally a decision support tool, exploiting the patient database, the text-mining tool and software solutions to automatically access biomedical databases, provides support in refining patient’s diagnosis.
Larizza C, Gabetta M, Milani G, Bucalo M, Mulas F, Nuzzo A, Favalli V, Arbustini E, Bellazzi R. Supporting translational research on inherited cardiomyopathies through information technology. Methods Inf Med. 2013;52(2):137-47.
Bellazzi R, Larizza C, Gabetta M, Milani G, Bucalo M, Mulas F, Nuzzo A, Favalli V, Arbustini E. Information technology solutions to support translational research on inherited cardiomyopathies. Stud Health Technol Inform. 2011;169:907-11.
Nuzzo A, Mulas F, Gabetta M, Arbustini E, Zupan B, Larizza C, Bellazzi R. Text mining approaches for automated literature knowledge extraction and representation. Stud Health Technol Inform. 2010;160:954-58.
Gabetta, M., Larizza, C., Bellazzi R. A Unified Medical Language System (UMLS) based system for Literature-Based Discovery in medicine. Stud Health Technol Inform 2013;. 192:412-6