An Architecture for Automated Reasoning Systems for Genome-Wide Studies

  • Angelo Nuzzo
  • Alberto Riva
  • Mario Stefanelli
  • Riccardo Bellazzi
Part of the Lecture Notes in Computer Science book series (LNCS, volume 5651)


The massive amounts of data generated by high-throughput experiments makes modern biomedical research a data-intensive discipline, shifting the research methodology from a hypothesis-based approach to a hypothesis-free one. A formal procedure should be defined to properly design a study, understand the outcomes and plan improvements for each task performed during the experiments. Such formal approach needs the identification of a high-level conceptual model of the knowledge discovery process occurring in genome-wide studies: this is what existing computational tools lack. Starting from an epistemological model of the discovery process proposed for diagnostic reasoning, we describe how the design and execution of modern genome-wide studies can be modelled using the same framework. We show the general validity of the model, how it can be instantiated to model typical scenarios of genome-wide studies, and how we use it to develop tools aimed at building semi-automated reasoning systems.


Genome-wide studies decision support system reasoning models 


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Copyright information

© Springer-Verlag Berlin Heidelberg 2009

Authors and Affiliations

  • Angelo Nuzzo
    • 1
  • Alberto Riva
    • 2
  • Mario Stefanelli
    • 3
  • Riccardo Bellazzi
    • 3
  1. 1.Centre for Tissue EngineeringUniversity of PaviaPaviaItaly
  2. 2.Department of Molecular Genetics and MicrobiologyUniversity of FloridaGainesvilleUSA
  3. 3.Department of Computer Science and SystemsUniversity of PaviaPaviaItaly

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