The mammalian phenotype ontology: enabling robust annotation and comparative analysis.
The mammalian phenotype ontology: enabling robust annotation and comparative analysis.
复制标题
DOI：
10.1002/wsbm.44
复制
发表时间：
2009-11
影响因子：
7.9
通讯作者：
Eppig, Janan T.
中科院分区：
文献类型：
--
作者：
Smith, Cynthia L.;Eppig, Janan T.
长期以来，老鼠一直是研究人类遗传病的重要模型。通过基因工程和突变技术的应用，独特的突变小鼠模型的数量和描述它们的表型数据量呈指数级增长。以便于数据挖掘的计算有用的方式描述突变小鼠的表型是生物信息学的主要挑战。在这里，我们描述了一个工具，哺乳动物表型本体论(MP)，用于分类和组织与小鼠和其他哺乳动物物种相关的表型信息。MP本体论已经应用于小鼠基因组信息学数据库(MGI)中的小鼠表型描述，http://www.informatics.jax.org/)，大鼠基因组数据库(RGd，http://rgd.mcw.edu)，)和在线孟德尔动物遗传(OMIA，http://omia.angis.org.au/)和其他地方)。使用这个本体论可以比较来自不同来源的数据，可以促进哺乳动物物种之间的比较，帮助识别适当的实验疾病模型，并有助于发现候选疾病基因和分子信号通路。
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.
登录
查看更多内容
影响因子：
4.4
作者：
Ramanathan, Palaniappan;Martin, Ian C.;Gardiner-Garden, Margaret;Thomson, Peter C.;Taylor, Rosanne M.;Ormandy, Christopher J.;Moran, Christopher;Williamson, Peter
通讯作者：
Williamson, Peter
影响因子：
14.9
作者：
Lenffer J;Nicholas FW;Castle K;Rao A;Gregory S;Poidinger M;Mailman MD;Ranganathan S
通讯作者：
Ranganathan S
影响因子：
12.3
作者：
Smith CL;Goldsmith CA;Eppig JT
通讯作者：
Eppig JT
影响因子：
46.9
作者：
Smith, Barry;Ashburner, Michael;Lewis, Suzanna
通讯作者：
Lewis, Suzanna
影响因子：
64.8
作者：
Howe, Doug;Costanzo, Maria;Fey, Petra;Gojobori, Takashi;Hannick, Linda;Hide, Winston;Hill, David P.;Kania, Renate;Schaeffer, Mary;St Pierre, Susan;Twigger, Simon;White, Owen;Rhee, Seung Yon
通讯作者：
Rhee, Seung Yon