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Bioinformatics 2008 24(16):i21-i27; doi:10.1093/bioinformatics/btn274
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Organization and integration of biomedical knowledge with concept maps for key peroxisomal pathways

A.M. Willemsen 1, G.A. Jansen 1, J.C. Komen 1, S. van Hooff 1, H.R. Waterham 2, P.M.T. Brites 2, R.J.A. Wanders 2 and A.H.C. van Kampen 1,3,*

1Bioinformatics Laboratory, Clinical Epidemiology, Biostatistics and Bioinformatics, 2Laboratory Genetic Metabolic Disease, Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9 1105 AZ Amsterdam, The Netherlands and 3Biosystems Data Analysis, Swammerdam Institute for Life Science, University of Amsterdam, Nieuwe Achtergracht 166, 1018 WV Amsterdam, The Netherlands

*To whom correspondence should be addressed.


  Abstract

Motivation: One important area of clinical genomics research involves the elucidation of molecular mechanisms underlying (complex) disorders which eventually may lead to new diagnostic or drug targets. To further advance this area of clinical genomics one of the main challenges is the acquisition and integration of data, information and expert knowledge for specific biomedical domains and diseases. Currently the required information is not very well organized but scattered over biological and biomedical databases, basic text books, scientific literature and experts’ minds and may be highly specific, heterogeneous, complex and voluminous.

Results: We present a new framework to construct knowledge bases with concept maps for presentation of information and the web ontology language OWL for the representation of information. We demonstrate this framework through the construction of a peroxisomal knowledge base, which focuses on four key peroxisomal pathways and several related genetic disorders. All 155 concept maps in our knowledge base are linked to at least one other concept map, which allows the visualization of one big network of related pieces of information.

Availability: The peroxisome knowledge base is available from www.bioinformaticslaboratory.nl (Support -> Web applications).

Contact: a.h.vankampen{at}amc.uva.nl


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