Phenotype ontologies for mouse and man: bridging the semantic gap

被引:32
作者
Schofield, Paul N. [1 ,2 ]
Gkoutos, Georgios V. [3 ]
Gruenberger, Michael [1 ]
Sundberg, John P. [2 ]
Hancock, John M. [4 ]
机构
[1] Univ Cambridge, Dept Physiol Dev & Neurosci, Cambridge CB2 3EG, England
[2] Jackson Lab, Bar Harbor, ME 04609 USA
[3] Univ Cambridge, Dept Genet, Cambridge CB2 3EG, England
[4] MRC Harwell, Bioinformat Grp, Harwell OX11 0RD, Oxon, England
基金
美国国家卫生研究院;
关键词
FUNCTIONAL ANNOTATION; BETHESDA PROPOSALS; DATABASE; GENE; MODEL; ASSOCIATION; TRAIT; BIOLOGY; TOOL; CLASSIFICATION;
D O I
10.1242/dmm.002790
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
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.
引用
收藏
页码:281 / 289
页数:9
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