Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease

John M. Hancock, Ann-Marie Mallon, Tim Beck, Georgios V. Gkoutos, Chris Mungall, Paul N. Schofield
2009 Mammalian Genome  
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
more » ... he 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.
doi:10.1007/s00335-009-9208-3 pmid:19649761 pmcid:PMC2759022 fatcat:dn7zwg4ygfckvdskzsjk6l2vfy