Illumina iScan System for the OMRF Microarray Research Facility

描述（由申请人提供）： 项目摘要/摘要 我们请求资助双用途微阵列平台，即 Illumina, Inc. 配备 Autoloader 2 的 iScan(R) 系统。该仪器将执行高密度全基因组关联和甲基化研究、定制单核苷酸多态性 (SNP) 检测和基因组规模表达谱分析。所请求的仪器将取代同样来自 Illlumina, Inc. 的过时的租赁 BeadStation，该仪器现在因排队项目而不堪重负，并将于 2010 年 7 月 1 日归还给设备所有者。所请求的仪器系统比租赁仪器快 10 倍以上。新仪器将具有更高的吞吐量，将更有效地为我们 NIH 资助的项目提供服务。拟议的主要用户由 NIH 资助的旨在了解系统性狼疮的工作统一起来红斑狼疮、其亚表型和相关自身免疫性风湿病已收集了超过 30,000 名受试者，以通过基因分型和基因表达分析来解释狼疮的遗传学。在接下来的几个月中，预计将需要超过 20,000 次阵列读数，这项工作通常需要大量样本。大小（> 10,000）以便获得足够的统计能力除了通过广泛的精细作图获得的遗传定位之外，遗传关联效应的跨祖先作图方法实际上总是有助于识别致病多态性。 Illumina iScan(R) 系统是目前就这些参数而言最好的系统，用户不仅可以进行 SNP 检测和拷贝数变异，而且还可以进行基因组规模的基因表达研究，因为计划进行超过 100 万个多态性的全基因组关联研究 (GWAS)，以及支持多种单核苷酸多态性 (SNP) 的定制芯片。在一些单一实验中包含超过 14,000 个样本的小型和大型项目中，我们的主要瓶颈是阵列扫描时间，配备样本自动加载器的 iScan 系统将使我们的容量增加近 40 倍，这种容量将使大量研究人员能够同时完成多个项目，以识别新的疾病基因并检查 NIH 资助项目中的疾病相关途径。发挥其在推进 NIH 支持的研究方面的最大潜在价值。

DESCRIPTION (provided by applicant): Project Summary/Abstract We request funding for a dual-purpose microarray platform, an iScan(R) system with Autoloader 2 by Illumina, Inc. This instrument will perform high-density genome wide association and methylation studies, custom single nucleotide polymorphism (SNP) detection and genome-scale expression profiling. The requested instrument will replace an outdated and leased BeadStation", also from Illlumina, Inc., which is now overwhelmed with queued projects and which will revert to the equipment owner on July 1, 2010. The requested instrument system is >10 times faster than the leased instrument. The new instrument will with higher throughput capacity will serve our NIH-funded projects more efficiently. The proposed Major Users are unified by their NIH funded work directed toward understanding systemic lupus erythematosus, its sub-phenotypes, and related autoimmune rheumatic disorders. Over 30,000 subjects have been collected to explain the genetics of lupus by genotyping and gene expression analysis. Experiments are underway that will require >20,000 array readings in the next few months. In the subsequent four years >100,000 array readings are anticipated generating billions of genotypes and gene expression measurements. This work often requires large sample sizes (>10,000) in order to have adequate statistical power. In addition to the genetic localization available from extensive fine mapping, the approach of trans-ancestry mapping of genetic association effects virtually always contributes toward the identification of the causative polymorphisms. In addition to lupus, other phenotypes are of interest to our NIH funded community of investigators including Sjvgren's syndrome, Behcet's disease, sarcoidosis, rheumatoid arthritis, diabetes, and malignancies. The Illumina iScan(R) system is currently the best system with respect to these parameters. Users may perform not only SNP detection and copy number variation but also genomic scale gene expression studies. The genotyping capabilities are especially important as both genome wide association studies (GWAS) with over 1 million polymorphisms are planned, as well as custom arrays from 1536 to over 200,000 single nucleotide polymorphisms (SNPs). By supporting multiple investigators in both small and large projects consisting of more than 14,000 samples in some single experiments our primary bottleneck is array scanning time. The iScan system equipped with a sample autoloader will increase our capacity nearly 40 fold. This capacity will allow the simultaneous completion of multiple projects from a large number of investigators to identify novel disease genes and examine disease related pathways in NIH funded projects. Our investigators have the funding, expertise and institutional support to fully exploit the requested instrument and the information this technology will provide. This technology will be used to its maximum potential value in advancing this NIH supported research.