ONLINE MENDELIAN INHERITANCE IN MAN (OMIM) RESTRUCTURING AND INTEGRATION

在线人类孟德尔遗传 (OMIM) 重组和整合

• 批准号: 3779431
• 负责人: CLAIR A FRANCOMANO
• 金额: --
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3779431
• 关键词: alleles; biological models; biomedical resource; computer assisted sequence analysis; computer program /software; cooperative study; data collection; genetic mapping; human genetic material tag; information systems; nucleic acid sequence; phenotype; pseudogenes; vocabulary development for information system

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.

这个项目的目的是编辑在线孟德尔遗传的测试 在人（OMIM），使其更可读，更容易搜索， 在特定的子标题下组织每个条目，并设计和 实现集成OMIM所需的数据结构和链接 基因组数据库（Genome Data Base，GDB） OMIM文本将更新为 确保每个条目具有基因座的完整描述（表型， 蛋白质基因产物等），一份完整的临床概要， 等位基因变体（分子缺陷）的日期列表。 新的OMIM条目 将为GDB中的基因或假基因创建，但在OMIM中找不到> 将创建OMIM文本的删节版本（“mini-MIM”）， 放置在GDB的SYBASE关系数据库系统中。 最后， 为了便于鉴别诊断过程， 临床词库纳入数据库的预期，和批判性分析 将对许多其他临床诊断数据库进行分析， 评估其作为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 OMIM更容易搜索，GDB用户更容易访问， 和GDB数据更容易为OMIM用户所用。