Author/Editor     Hancock, John M.; Mallon, Ann-Marie; Beck, Tim; Gkoutos, Georgios V.; Mungall, Chris; Schofield, Paul N.
Title     Mouse, man, and meaning
Type     članek
Vol. and No.     Letnik 20, št. 8
Publication year     2009
Volume     str. 457-461
ISSN     0938-8990 - Mammalian genome : official journal of the International Mammalian Genome Society
Language     eng
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.
Keywords     fenotipizacija
informacijska infrastruktura
ontologija
phenotyping
informatics infrastructure
ontology