Open AccessThe mammalian phenotype ontology: enabling robust annotation and comparative analysis
Author(s) -
Smith Cynthia L.,
Eppig Janan T.
Publication year - 2009
Publication title -
wiley interdisciplinary reviews: systems biology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.087
H-Index - 51
eISSN - 1939-005X
pISSN - 1939-5094
DOI - 10.1002/wsbm.44
Subject(s) - omim : online mendelian inheritance in man , phenotype , annotation , computational biology , ontology , inheritance (genetic algorithm) , biology , genome , laboratory mouse , informatics , mendelian inheritance , genetics , gene , philosophy , epistemology , electrical engineering , engineering
The mouse has long been an important model for the study of human genetic disease. Through the application of genetic engineering and mutagenesis techniques, the number of unique mutant mouse models and the amount of phenotypic data describing them are growing exponentially. Describing phenotypes of mutant mice in a computationally useful manner that will facilitate data mining is a major challenge for bioinformatics. Here we describe a tool, the Mammalian Phenotype Ontology (MP), for classifying and organizing phenotypic information related to the mouse and other mammalian species. The MP Ontology has been applied to mouse phenotype descriptions in the Mouse Genome Informatics Database (MGI, http://www.informatics.jax.org/), the Rat Genome Database (RGD, http://rgd.mcw.edu), the Online Mendelian Inheritance in Animals (OMIA, http://omia.angis.org.au/) and elsewhere. Use of this ontology allows comparisons of data from diverse sources, can facilitate comparisons across mammalian species, assists in identifying appropriate experimental disease models, and aids in the discovery of candidate disease genes and molecular signaling pathways.