Masuya Hiroshi, Yoshikawa Sumi, Heida Naohiko, Toyoda Tetsuro, Wakana Shigeharu, Shiroishi Toshihiko
Mouse Functional Genomics Research Group, RIKEN GSC, Tsukuba, Ibaraki, Japan.
J Bioinform Comput Biol. 2007 Dec;5(6):1173-91. doi: 10.1142/s0219720007003168.
Recently, a number of collaborative large-scale mouse mutagenesis programs have been launched. These programs aim for a better understanding of the roles of all individual coding genes and the biological systems in which these genes participate. In international efforts to share phenotypic data among facilities/institutes, it is desirable to integrate information obtained from different phenotypic platforms reliably. Since the definitions of specific phenotypes often depend on a tacit understanding of concepts that tends to vary among different facilities, it is necessary to define phenotypes based on the explicit evidence of assay results. We have developed a website termed PhenoSITE (Phenome Semantics Information with Terminology of Experiments: http://www.gsc.riken.jp/Mouse/), in which we are trying to integrate phenotype-related information using an experimental-evidence-based approach. The site's features include (1) a baseline database for our phenotyping platform; (2) an ontology associating international phenotypic definitions with experimental terminologies used in our phenotyping platform; (3) a database for standardized operation procedures of the phenotyping platform; and (4) a database for mouse mutants using data produced from the large-scale mutagenesis program at RIKEN GSC. We have developed two types of integrated viewers to enhance the accessibility to mutant resource information. One viewer depicts a matrix view of the ontology-based classification and chromosomal location of each gene; the other depicts ontology-mediated integration of experimental protocols, baseline data, and mutant information. These approaches rely entirely upon experiment-based evidence, ensuring the reliability of the integrated data from different phenotyping platforms.
最近,多个协作性的大规模小鼠诱变计划已经启动。这些计划旨在更好地理解所有单个编码基因的作用以及这些基因所参与的生物系统。在国际上各机构/研究所之间共享表型数据的努力中,可靠地整合从不同表型平台获得的信息是很有必要的。由于特定表型的定义往往依赖于不同机构间可能存在差异的概念默契理解,因此有必要基于实验结果的明确证据来定义表型。我们开发了一个名为PhenoSITE的网站(实验术语的表型语义信息:http://www.gsc.riken.jp/Mouse/),在该网站中,我们正尝试使用基于实验证据的方法整合与表型相关的信息。该网站的特点包括:(1)我们表型分析平台的基线数据库;(2)将国际表型定义与我们表型分析平台中使用的实验术语相关联的本体;(3)表型分析平台标准化操作程序的数据库;以及(4)使用来自理化学研究所基因组科学中心大规模诱变计划产生的数据的小鼠突变体数据库。我们开发了两种类型的综合查看器,以提高对突变体资源信息的可访问性。一种查看器描绘了基于本体的每个基因分类和染色体位置的矩阵视图;另一种描绘了实验方案、基线数据和突变体信息的本体介导整合。这些方法完全依赖于基于实验的证据,确保了来自不同表型平台的整合数据的可靠性。