Illumina Genome Analyzer II

描述（由申请人提供）：新的DNA测序技术的引入为具有突破性发现潜力的创造性应用提供了一个特殊的机会。Illumina基因组分析仪II（GAII，也称为Illumina Solexa）。该仪器将位于康奈尔大学生命科学核心实验室中心（CLC）。该仪器系统将采用多学科、多核心的方法运行，包括该中心的DNA测序、基因分型、微阵列、信息技术和信息学核心资源的支持。在核心设施中心实施Illumina Solexa作为共享资源，将使这一重要的新技术具有成本效益。CLC在运行所要求的仪器系统方面具有丰富的经验。自2007年7月以来，CLC已经拥有了Illumina Solexa，目前将该平台作为标准核心设施服务提供。该仪器由非NIH资金来源购买。该仪器的积压量很大，预计的吞吐量需求超过了仪器的能力。为了满足需求，自2007年12月以来，第二个Illumina Solexa单元一直在CLC中，免费借用六个月。由于NIH资助项目的预计高水平使用，NIH申请资金用于购买第二台Illumina Solexa仪器。显然需要第二台Illumina Solexa仪器作为共享资源永久放置在康奈尔大学。该应用程序描述了将使用该仪器的21个NIH资助的研究小组的19个项目。Illumina Solexa将用于全基因组组装、PCR扩增子重测序、突变检测（包括对大量患者样本进行测序以识别疾病候选基因中的突变）、SNP基因分型、蛋白质-核酸相互作用的全基因组测量以及用于基因表达和基因调控研究的小RNA分析。Illumina Solexa使传统测序仪器无法实现或不可能实现的实验成为可能。所要求的工具将使NIH资助的康奈尔大学研究人员能够开展研究项目，否则是不可能的。该工具将促进目前和未来NIH资助的广泛项目。 公共卫生相关性：所要求的Illumina Solexa仪器将在促进各种健康相关研究的知识和理解方面发挥至关重要的作用，包括癌症转化（血液、卵巢、前列腺和乳腺恶性肿瘤）、胰岛素信号传导、免疫反应、肺部疾病、神经管缺陷、干细胞潜能、不育症、神经精神疾病、疟疾抗性和病原菌（M.结核菌、链球菌和李斯特菌）。

DESCRIPTION (provided by applicant): The introduction of new DNA sequencing technologies presents an exceptional opportunity for creative applications with potential for breakthrough discoveries. Funding is requested for an Illumina Genome Analyzer II (GAII, also called an Illumina Solexa). The instrument will be located in the Cornell University Life Sciences Core Laboratories Center (CLC). The instrument system will be operated with a multidisciplinary, multi-core approach, including support from the DNA sequencing, genotyping, microarrays, information technology and informatics core resources of the Center. Implementation of the Illumina Solexa in a core facility center as a shared resource will enable cost effective access to this vital new technology. The CLC has significant experience in running the requested instrument system. The CLC has had an Illumina Solexa since July 2007 and currently offers this platform as a standard core facility service. This instrument was purchased with non-NIH funding sources. There is a significant backlog on this instrument and projected throughput demand exceeds the capacity of the instrument. To meet demand, a second Illumina Solexa unit has been in the CLC since December 2007, on loan at no cost for six months. Due to the projected high level of use for NIH funded projects, NIH funding is requested for purchase of a second Illumina Solexa instrument. There is a clear need for a second Illumina Solexa instrument to be permanently placed at Cornell as a shared resource. This application describes 19 projects from 21 NIH funded investigator groups that will utilize the instrument. The Illumina Solexa will be used for whole genome assembly, resequencing of PCR amplicons, mutation detection (including sequencing large sets of patient samples to identify mutations in disease candidate genes), SNP genotyping, genome-wide measurements of protein-nucleic interactions, and small RNA profiling for gene expression and gene regulation studies. The Illumina Solexa makes possible experiments that are impractical or impossible with conventional sequencing instruments. The requested instrument will enable NIH funded investigators at Cornell to undertake research projects that would not otherwise be possible. The instrument will facilitate a broad range of current and future NIH funded projects. PUBLIC HEALTH RELEVANCE: The requested Illumina Solexa instrument will play a crucial role in advancing knowledge and understanding in a wide variety of health related research, including studies of cancer transformation (hematologic, ovarian, prostate and mammary malignancies), insulin signaling, immune response, pulmonary disease, neural tube defects, stem cell potential, infertility, neuropsychiatric disease, malaria resistance, and pathogenic bacteria (M. tuberculosis, Streptococcus, and Listeria).