This article is part of the supplement: A Semantic Web for Bioinformatics: Goals, Tools, Systems, Applications

Open Access Research

Ontology-guided data preparation for discovering genotype-phenotype relationships

Adrien Coulet12*, Malika Smaïl-Tabbone2, Pascale Benlian3, Amedeo Napoli2 and Marie-Dominique Devignes2

Author Affiliations

1 KIKA Medical, Paris, F-75012, France

2 LORIA (UMR 7503 CNRS-INPL-INRIA-Nancy2-UHP), Vandoeuvre-lès-Nancy, F- 54506, France

3 Université Pierre et Marie Curie - Paris6, INSERM UMRS 538 Biochimie-Biologie Moléculaire, Paris, F-75571, France

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BMC Bioinformatics 2008, 9(Suppl 4):S3  doi:10.1186/1471-2105-9-S4-S3

Published: 25 April 2008



Complexity and amount of post-genomic data constitute two major factors limiting the application of Knowledge Discovery in Databases (KDD) methods in life sciences. Bio-ontologies may nowadays play key roles in knowledge discovery in life science providing semantics to data and to extracted units, by taking advantage of the progress of Semantic Web technologies concerning the understanding and availability of tools for knowledge representation, extraction, and reasoning.


This paper presents a method that exploits bio-ontologies for guiding data selection within the preparation step of the KDD process. We propose three scenarios in which domain knowledge and ontology elements such as subsumption, properties, class descriptions, are taken into account for data selection, before the data mining step. Each of these scenarios is illustrated within a case-study relative to the search of genotype-phenotype relationships in a familial hypercholesterolemia dataset. The guiding of data selection based on domain knowledge is analysed and shows a direct influence on the volume and significance of the data mining results.


The method proposed in this paper is an efficient alternative to numerical methods for data selection based on domain knowledge. In turn, the results of this study may be reused in ontology modelling and data integration.