DNA SEQUENCING/GENOTYPING CORE FACILITY

描述：（申请人的描述）本提案的总体目标 是将目前人类遗传学DNA测序中心 转化为一个全研究所范围的，最先进的，高质量的测序， 基因分型和杂合性缺失（洛）共享资源， 西奈山医学院的癌症相关和其他研究。与 这份拨款申请和一个重要的机构承诺， 设备采购，这一核心将得到升级和增强，以提供这些 为所有NCI资助的、NIH资助的和其他研究者提供服务 西奈投入将大大增加，核心服务将高度 癌症导向的研究和其他研究工作。芯会 为所有测序提供内部专业知识和咨询服务， 基因分型和洛缺失项目。这个核心将满足癌症的强烈需求 和其他研究人员进行现场测序，以加快基因发现，基因 结构分析，突变表征，载体构建体分析， 由于大多数癌症都有潜在的遗传易感性因素， 用于鉴定人类遗传变异的高通量设施， 单倍型差异的形式对于癌症基因的发现是无价的。 将使用频繁的质量控制评估来验证准确性， 所有核心服务的质量和吞吐量。核心将提供教育 通过小型课程，演讲， 和讲习班。目标是鼓励利用核心资源， 降低西奈山癌症相关研究和其他研究的成本。此外 核心小组、调查员和 了解核心服务的可用性和功能， 通过创建网站、校园范围内的电子邮件通知 和一年两次的时事通讯核心还将评价和实施新的、 协议、升级和技术，以满足不断变化和扩展的 现代生物医学研究的需要。 重要的是，公平，具有成本效益 将通过建立一个 机构咨询委员会。该多学科委员会将 对核心服务进行监督和协调。他们将审查成本 和收入定期和每年调整价格，以实现最大的 为调查人员节省开支。他们还将识别和推荐小说 战略、技术、工具和资源，以进一步促进 并促进尖端癌症和其他研究。

DESCRIPTION: (Applicant's Description) The overall objective of this proposal is to transform the current Department of Human Genetics DNA Sequencing Core into an Institution-wide, state-of-the-art, high-quality sequencing, genotyping, and loss of heterozygosity (LOH) shared resource to advance cancer-related and other research at the Mount Sinai School of Medicine. With this grant application and a significant Institutional commitment for capital equipment purchases, this Core will be upgraded and enhanced to provide these services to all NCI-funded, NIH-funded, and other Investigators at Mount Sinai. Throughput will be greatly increased and Core services will be highly accessible to cancer-oriented and other research efforts. The Core will provide in-house expertise and consultation services for all sequencing, genotyping, and LOH projects. This Core will meet the intense needs of cancer and other researchers for on-site sequencing to speed gene discovery, gene structure analysis, mutation characterization, analysis of vector constructs, etc. Since most cancers have an underlying genetic susceptibility factor, a high-throughput facility for the identification of human genetic variation in the form of haplotype differences is invaluable for cancer-gene discovery. Frequent quality control assessments will be used to validate the accuracy, quality and throughput of all Core services. The Core will provide educational opportunities to the Mount Sinai community through minicourses, presentations and workshops. The goal is to encourage use of Core resources to further reduce costs for cancer-related and other research at Mount Sinai. In addition to the visibility gained by the educational efforts of the Core, investigator awareness of the availability and features of Core services will be promulgated through creation of a Website, campus-wide E-mail announcements and a biannual newsletter. The Core will also evaluate and implement new, protocols, upgrades and technology to meet the ever changing and expanding needs of modern biomedical research. Importantly, equitable, cost-effective and responsive Core services will be promoted through the establishment of an Institutional Advisory Committee. This multidisciplinary committee will provide oversight and coordination of Core services. They will review costs and income regularly and annually adjust prices to achieve the greatest possible savings to investigators. They will also identify and recommend novel strategies, technologies, instrumentation, and resources to further facilitate and foster cutting-edge cancer and other research.