ONLINE MENDELIAN INHERITANCE IN MAN (OMIM) RESTRUCTURING AND INTEGRATION

这个项目是设计来编辑测试的在线孟德尔继承 在人(OMIM)中，通过以下方式使其更具可读性和更易于搜索 将每个条目组织在特定的副标题下，并设计和 实现集成OMIM所需的数据结构和链接 与基因组数据库(GDB)的文本。OMIM文本将更新为 确保每个条目都有一个完整的基因座描述(表型， 蛋白质基因产物等)，完整的临床概要和最新的 等位基因变异(分子缺陷)的日期列表。新的OMIM条目 将在GDB中为基因或伪基因创建，但在OMIM和GT中未发现； 将创建OMIM文本的节略版本(“mini-MIM”)，并 放置在GDB的Sybase关系数据库系统中。最后， 为了促进鉴别诊断过程，集成了 临床词库进入数据库，并进行批判性分析 将执行多个其他临床诊断数据库以 评估它们作为OMIM辅助诊断工具的适用性。 该项目的总体目标是使文本信息在 OMIM更容易搜索并且更容易被GDB用户访问， 以及OMIM用户更容易获得的GDB数据。

This project is designed to edit the test of Online Mendelian Inheritance in Man (OMIM), to make it more readable and more readily searchable by organizing each entry under specific subheadings, and to design and implement the data structures and links necessary to integrate the OMIM text with the Genome Data Base (GDB). The OMIM text will be updated to ensure that each entry has a complete description of the locus (phenotype, protein gene product, etc.), a complete clinical synopsis, and an up-to- date listing of allelic variants (molecular defects). New OMIM entries will be created for genes or pseudogenes in the GDB but not found in OMIM> An abridged version of the OMIM text ("mini-MIM") will be created and placed within the SYBASE relational database system of the GDB. Finally, to facilitate the differential diagnostic process, integration of a clinical thesaurus into the database is anticipated, and critical analyses of a number of other clinical diagnostic database will be performed to assess their suitability as accessory diagnostic tools for use with OMIM. The overall objective of the project is to make the textual information in OMIM more easily searchable and more readily accessible to the GDB user, and GDB data more readily available to the OMIM user.