HIGH THROUGHPUT DNA SEQUENCING/GENTOYPING SYSTEM

本次NCRR共享仪器拨款申请的总体目标是将当前的人类遗传学共享DNA测序核心升级为机构范围内最先进的测序，基因分型和杂合性损失（LOH）分析核心，以促进和加强所有nih资助的西奈山医学院研究人员的研究工作。具体要求是用于DNA测序和片段分析的高通量DNA测序/基因型系统。ABI 3700是一种经过验证的高质量毛细管阵列测序仪，可以支持西奈山美国国立卫生研究院支持的高生产力研究的高通量需求。该应用程序通过其首席研究员在过去5年的经验得到加强，主要为人类遗传学系提供高质量的DNA测序，基因分型和寡核苷酸合成，使用ABI 377XL自动DNA测序仪，ABI Catalyst 877机器人工作站，ABI 394 DNA合成器和Sun SPARC系统服务器在我们的机构以太网主干上。有了这笔拨款和额外的机构支持，这个运作良好的核心将得到升级和加强，为所有美国国立卫生研究院资助的西奈山研究人员和其他研究人员提供这些服务。该中心将为所有测序、基因分型和LOH项目提供内部专业知识和咨询服务。该核心将满足研究人员对现场测序的强烈需求，以加快基因发现、基因结构分析、突变表征、载体结构分析等。使用基因分型和LOH分析的基因组学工作的能力将因所需的设备而大大扩大。将使用频繁的质量控制和评估来验证所有核心服务的准确性、质量和吞吐量。Core将通过迷你课程、演讲和研讨会为西奈山社区提供教育机会，并通过创建网站、校园范围内的电子邮件公告和一年两次的通讯，向研究者宣传Core服务的可用性和功能。核心将不断评估和实施新的协议、升级和技术，为美国国立卫生研究院支持的研究提供最佳资源。重要的是，将通过机构咨询委员会促进公平、具有成本效益和反应迅速的核心服务。这个多学科委员会将监督和协调核心服务，定期审查费用和收入，并每年调整价格，以使调查人员的费用尽可能低。他们还将确定和推荐新的战略、技术、仪器和资源，以进一步促进和促进前沿研究。总之，所要求的设备将与现有资源和我们院长的主要基因组学/生物信息学计划协同配合，显著提高研究生产力。

The overall objective of this NCRR Shared Instrument Grant application is to upgrade the current Department of Human Genetics Shared DNA Sequencing Core into an Institution-wide, state-of-the-art core for sequencing, genotyping, and loss of heterozygosity (LOH) analysis to facilitate and enhance the research efforts of all NIH-funded Investigators at the Mount Sinai School of Medicine. The specific request is for a High-Throughput DNA Sequencing/Gentoyping System for DNA sequencing and fragment analysis. The requested ABI 3700 is a proven, high-quality capillary-array sequencer that can support the high- throughput needs of the highly productive, NIH-supported research at Mount Sinai. This application is strengthened by the previous 5 years of experience of its Principal Investigator in providing high-quality DNA sequencing, genotyping and oligonucleotide synthesis primarily for the Faculty of the Department of Human Genetics using an ABI 377XL Automated DNA Sequencer, ABI Catalyst 877 robotic workstation, ABI 394 DNA synthesizer and Sun SPARC system server on our Institutional Ethernet backbone. With this grant and additional Institutional support, this well-functioning Core will be upgraded and enhanced to provide these services to all NIH-funded and other Investigators at Mount Sinai. 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 investigators for on-site sequencing to speed gene discovery, gene structure analysis, mutation characterization, analysis of vector constructs, etc. The capacity for genomics efforts using genotyping and LOH analyses will be greatly expanded by the requested equipment. 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 and will promulgate investigator awareness of the availability and features of Core services through creation of a Website, campus-wide Email announcements and a biannual newsletter. The Core will continuously evaluate and implement new protocols, upgrades and technology to provide optimal resources for NIH-supported research. Importantly, equitable, cost-effective and responsive Core services will be promoted through an Institutional Advisory Committee. This multidisciplinary committee will provide oversight and coordination of Core services, will review costs and income regularly and annually adjust prices to achieve the lowest possible costs to investigators. They will also identify and recommend novel strategies, technologies, instrumentation, and resources to further facilitate and foster cutting-edge research. In summary, the requested equipment will fit synergistically with existing resources and our Dean's major genomics/bioinformatics initiatives to markedly enhance research productivity.