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Using ontologies to describe mouse phenotypes

Georgios V Gkoutos1*, Eain CJ Green1, Ann-Marie Mallon1, John M Hancock1 and Duncan Davidson2

Author affiliations

1 Bioinformatics Group, MRC Mammalian Genetics Unit, Harwell, Oxfordshire, OX11 0RD, UK

2 MRC Human Genetics Unit, Edinburgh, EH4 2XU, UK

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Citation and License

Genome Biology 2004, 6:R8  doi:10.1186/gb-2004-6-1-r8

Published: 20 December 2004


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.