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Enabling the use of hereditary information from pedigree tools in medical knowledge-based systems

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

© Journal of Biomedical Informatics, 2013, vol. 46, núm. 4, p. 710-720

Elsevier

Author: Gay Sacristán, Pablo
López Ibáñez, Beatriz
Pla Planas, Albert
Saperas Riera, Jordi
Pous i Sabadí, Carles
Date: 2013 August
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
Format: application/pdf
ISSN: 1532-0464 (versió paper)
1532-0480 (versió electrònica)
Document access: http://hdl.handle.net/10256/9598
Language: eng
Publisher: Elsevier
Collection: Versió preprint del document publicat a: http://dx.doi.org/10.1016/j.jbi.2013.06.003
Articles publicats (ICRA)
Is part of: © Journal of Biomedical Informatics, 2013, vol. 46, núm. 4, p. 710-720
Rights: Tots els drets reservats
Subject: Sistemes experts (Informàtica)
Expert systems (Computer science)
Sistemes d’ajuda a la decisió
Decision support systems
Medicina -- Informàtica
Medicine -- Data processing
Title: Enabling the use of hereditary information from pedigree tools in medical knowledge-based systems
Type: info:eu-repo/semantics/article
Repository: DUGiDocs

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