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Using ontologies to describe mouse phenotypes

Georgios V Gkoutos¹, Eain C J Green, Ann-Marie Mallon

¹Bioinformatics Group, MRC Mammalian Genetics Unit, Harwell, Oxfordshire, OX11 0RD, UK. g.gkoutos@har.mrc.ac.uk

|January 12, 2005

Abstract:

The mouse is an important model of human genetic disease. Describing phenotypes of mutant mice in a standard, structured manner that will facilitate data mining is a major challenge for bioinformatics. Here we describe a novel, compositional approach to this problem which combines core ontologies from a variety of sources. This produces a framework with greater flexibility, power and economy than previous approaches. We discuss some of the issues this approach raises.

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