Phenotype ontologies for mouse and man: bridging the semantic gap.
A major challenge of the post-genomic era is coding phenotype data from humans and model organisms such as the mouse, to permit the meaningful translation of phenotype descriptions between species. This ability is essential if we are to facilitate phenotype-driven gene function discovery and empower comparative pathobiology. Here, we review the current state of the art for phenotype and disease description in mice and humans, and discuss ways in which the semantic gap between coding systems might be bridged to facilitate the discovery and exploitation of new mouse models of human diseases.
Schofield
Paul N
PN
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK. ps@mole.bio.cam.ac.uk
Gkoutos
Georgios V
GV
Gruenberger
Michael
M
Sundberg
John P
JP
Hancock
John M
JM
D000818:Animals; D004194:Disease / Q000235:genetics; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D010641:Phenotype; D012660:Semantics; D013045:Species Specificity