CORE--THE MUTATION AND CANDIDATE GENE RESOURCES

此前，基因组资源核心专注于发展DNA银行、组织培养和基因分型专业知识和支持。它的成功导致了人类遗传学中心基因组研究核心的开发，该中心现在将为这些项目提供这些功能。这使核心人员能够开发新的资源，以满足目前和未来的项目需求。随着改进的绘图资源的出现，将需要突变/候选基因分析和生物信息学方面的专门知识和资源。它将为自动测序提供技术专长，建立突变技术作为项目人员的资源，以协助进行已知基因和候选基因突变分析。此外，它还将对未来和以前具有已知基因缺陷的项目疾病进行突变筛查，如TS、VHL和NF。它还将提供多态技术方面的专业知识。将建立处理人类基因组项目可用信息的生物信息学需求的软件，以及项目位置克隆数据，如物理测绘工具(ACEDB)、基因注释程序、突变数据库等。最后，核心将维护并继续扩大测绘的物理资源，包括YAC、PAC、cDNA文库、筛选过滤器和其他资源。

Previously, the Genomic Resources Core centered upon developing DNA banking, tissue culture and genotyping expertise and support. It's success has led to the development of the Genomic Research Core in the Center for Human Genetics, which will now provide these functions to the projects. This allows the Core personnel to develop new resources to meet present and future project needs. With the advent of improved mapping resources the need will be for expertise and resources in mutation/candidate gene analysis and bioinformatics. It will provide technical expertise for automated sequencing, establishing mutational techniques as a resource for project personnel, to assist in both known gene and candidate gene mutation analysis. In addition, it will perform mutational screening for future and previous project disorders with known gene defects such as TS, VHL and NF. It will provide expertise in polymorphism technology as well. Software to handle the bioinformatics needs of the information available from the Human genome project, as well as project position cloning data will be established, such as physical mapping tools (ACEdB), gene annotation programs, mutational databases etc. Finally, the Core will maintain and continue to expand the physical resources of mapping including the YAC, PAC, cDNA libraries, screening filters and other resources.