Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
Identifieur interne : 000098 ( Ncbi/Curation ); précédent : 000097; suivant : 000099Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
Auteurs : John M. Hancock ; Ann-Marie Mallon ; Tim Beck ; Georgios V. Gkoutos ; Chris Mungall [États-Unis] ; Paul N. SchofieldSource :
- Mammalian Genome [ 0938-8990 ] ; 2009.
Abstract
Now that the laboratory mouse genome is sequenced and the annotation of its gene content is improving, the next major challenge is the annotation of the phenotypic associations of mouse genes. This requires the development of systematic phenotyping pipelines that use standardized phenotyping procedures which allow comparison across laboratories. It also requires the development of a sophisticated informatics infrastructure for the description and interchange of phenotype data. Here we focus on the current state of the art in the description of data produced by systematic phenotyping approaches using ontologies, in particular, the EQ (Entity-Quality) approach, and what developments are required to facilitate the linking of phenotypic descriptions of mutant mice to human diseases.
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DOI: 10.1007/s00335-009-9208-3
PubMed: 19649761
PubMed Central: 2759022
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John M. Hancock<affiliation><nlm:aff id="Aff1">Bioinformatics Group, MRC Harwell, Harwell, Oxfordshire OX11 0RD UK</nlm:aff>
<wicri:noCountry code="subfield">Oxfordshire OX11 0RD UK</wicri:noCountry>
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<affiliation><nlm:aff id="Aff1">Bioinformatics Group, MRC Harwell, Harwell, Oxfordshire OX11 0RD UK</nlm:aff>
<wicri:noCountry code="subfield">Oxfordshire OX11 0RD UK</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="Aff1">Bioinformatics Group, MRC Harwell, Harwell, Oxfordshire OX11 0RD UK</nlm:aff>
<wicri:noCountry code="subfield">Oxfordshire OX11 0RD UK</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="Aff2">Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH UK</nlm:aff>
<wicri:noCountry code="subfield">CB2 3EH UK</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="Aff4">Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3DY UK</nlm:aff>
<wicri:noCountry code="subfield">CB2 3DY UK</wicri:noCountry>
</affiliation>
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<front><div type="abstract" xml:lang="en"><p>Now that the laboratory mouse genome is sequenced and the annotation of its gene content is improving, the next major challenge is the annotation of the phenotypic associations of mouse genes. This requires the development of systematic phenotyping pipelines that use standardized phenotyping procedures which allow comparison across laboratories. It also requires the development of a sophisticated informatics infrastructure for the description and interchange of phenotype data. Here we focus on the current state of the art in the description of data produced by systematic phenotyping approaches using ontologies, in particular, the EQ (Entity-Quality) approach, and what developments are required to facilitate the linking of phenotypic descriptions of mutant mice to human diseases.</p>
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