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

J. M. Hancock, A. M. Mallon, T. Beck, G. V. Gkoutos, C. Mungall, P. N. Schofield

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)457-461
Number of pages5
JournalMamm. Genome
Volume20
Issue number8
DOIs
Publication statusPublished - 1 Aug 2009

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