Supporting translational research on inherited cardiomyopathies through information technology

Cristiana Larizza, M. Gabetta, G. Milani, M. Bucalo, F. Mulas, A. Nuzzo, V. Favalli, E. Arbustini, R. Bellazzi

Research output: Contribution to journalArticlepeer-review


Objectives: The INHERITANCE project, funded by the European Commission, is aimed at studying genetic or inherited Dilated cardiomyopathies (DCM) and at understanding the impact and management of the disease within families that suffer from heart conditions that are caused by DCMs. The biomedical informatics research activity of the project aims at implementing information technology solutions to support the project team in the different phases of their research, in particular in genes screening prioritization and new gene-disease association discovery. Methods: In order to manage the huge quantity of scientific, clinical and patient data generated by the project several advanced biomedical informatics tools have been developed. The paper describes a layer of software instruments to support translation of the results of the project in clinical practice as well as to support the scientific discovery process. This layer includes data warehousing, intelligent querying of the phenotype data, integrated search of biological data and knowledge repositories, text mining of the relevant literature, and case based reasoning. Results: At the moment, a set of 1,394 patients and 9,784 observations has been stored into the INHERITANCE data warehouse. The literature database contains more than 1,100,000 articles retrieved from the Pubmed and generically related to cardiac diseases, already analyzed for extracting medical concepts and genes. Conclusions: After two years of project the data warehouse has been completely set up and the text mining tools for automatic literature analysis have been implemented and tested. A first prototype of the decision support tool for knowledge discovery and gene prioritization is available, but a more complete release is still under development.

Original languageEnglish
Pages (from-to)137-147
Number of pages11
JournalMethods of Information in Medicine
Issue number2
Publication statusPublished - 2013


  • Biomedical research
  • Dilated cardiomyopathy
  • Translational research

ASJC Scopus subject areas

  • Health Informatics
  • Health Information Management
  • Advanced and Specialised Nursing
  • Medicine(all)


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