GENOMIC TECHNOLOGY AND GENETIC DISEASE

这一人类基因组中心的申请解决了以下两个关键需求 人类基因组计划：1)技术的创新进步 使项目能够以及时和具有成本效益的方式完成； 2)深入和有组织地将这些技术应用于家庭 为了最大限度地为人类带来医疗利益 项目。此P30应用程序旨在扩展和加强 已经在大学进行了强大的人类基因组学研究工作 来自密歇根州。该提案的核心是一系列七个核心：1) 家系核心；2)遗传标记核心；3)统计分析 核心；4)体细胞遗传学核心；5)文库核心；6)DNA测序 核心；7)管理核心。所有这些都是用重型设计的 强调技术进步，意在产生新的 将对整个基因组计划有利的方法。这 包括产生和测试微卫星重复序列的新方法， 遗传标记分析的自动化，复合体的直接DNA测序 模板、巨型数据库测序、染色体特定连接的生成 文库，新的cdna克隆计划，各种改进 数学方法和数据库管理与体细胞研究进展 和原位测绘技术。此外，七个创新试点 寻求推进基因组技术的项目被包括在 这项提议。管理部分旨在招聘新的 调查人员进入现场，以最大限度地提高 参与者，并对整个中心进行监督。

This application for a Human Genome Center addresses two crucial needs of the Human Genome Project: 1) Innovative improvements in technology in order to allow completion of the project in a timely and cost-effective fashion; 2) Intensive and organized application of these technologies to families with genetic disease in order to maximize the medical benefits to the project. This P30 application is designed to expand and undergird the already strong existing research efforts in human genomics at the Universit of Michigan. The heart of the proposal is a series of seven cores: 1) Family Collection Core; 2) Genetic Marker Core; 3) Statistical Analysis Core; 4) Somatic Cell Genetics Core; 5) Library Core; 6) DNA Sequencing Core; and 7) Administrative Core. All of these are designed with heavy emphasis on technological advancement, with the intention of generating new approaches which will be of benefit to the Genome Project as a whole. This includes new methods for generating and testing microsatellite repeats, automation of genetic marker analysis, direct DNA sequencing of complex templates, megabase sequencing, generation of chromosome-specific linking libraries, novel cDNA cloning schemes, a variety of improvements in mathematical methods and data base management, and advances in somatic cell and in situ mapping technology. In addition, seven innovative pilot projects, which seek to advance genome technology are included as part of the proposal. The administrative component is designed to recruit new investigators into the field, to maximize communication amongst participants, and to provide oversight of the entire Center.