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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Enabling the use of hereditary information from pedigree tools in medical knowledge-based systems
Pablo Gay1, Beatriz López, Albert Plà
1University of Girona, Campus Montilivi, P4 Building, Girona E17071, Spain. pablo.gay@udg.edu
Abstract:
The use of family information is a key issue to deal with inheritance illnesses. This kind of information use to come in the form of pedigree files, which contain structured information as tree or graphs, which explains the family relationships. Knowledge-based systems should incorporate the information gathered by pedigree tools to assess medical decision making. In this paper, we propose a method to achieve such a goal, which consists on the definition of new indicators, and methods and rules to compute them from family trees. The method is illustrated with several case studies. We provide information about its implementation and integration on a case-based reasoning tool. The method has been experimentally tested with breast cancer diagnosis data. The results show the feasibility of our methodology.
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