Illumina iScan System for the OMRF Microarray Research Facility

用于 OMRF 微阵列研究设施的 Illumina iScan 系统

• 批准号: 8131320
• 负责人: John Barker Harley
• 金额: $ 41.34万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-06-10 至 2011-06-09
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8131320
• 关键词: System; research facility

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 The requested instrument will replace an outdated and leased BeadStation", also from Illlumina, Inc., which is now overwhelmed with queued projects and which will revert to the equipment owner on July 1, 2010.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.

描述（由申请人提供）： 项目概要/摘要我们申请资助一个双重用途的微阵列平台，一个由Illumina公司生产的带有Autoloader 2的iScan（R）系统。该仪器将进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）检测和基因组规模的表达谱分析。所要求的仪器将取代过时和租赁的BeadStation”，也来自Illumina，Inc.，该公司现在因排队的项目而不堪重负，将于2010年7月1日归还给设备所有者。请求的仪器系统比租赁的仪器快10倍以上。新仪器将具有更高的吞吐量，将更有效地为我们的NIH资助项目服务。建议的主要用户是统一的NIH资助的工作，旨在了解系统性红斑狼疮，其亚表型，和相关的自身免疫性风湿性疾病。已经收集了超过30，000名受试者，通过基因分型和基因表达分析来解释狼疮的遗传学。实验正在进行中，在接下来的几个月里需要超过20，000个阵列读数。在随后的四年中，预计超过100，000个阵列读数将产生数十亿个基因型和基因表达测量值。这项工作通常需要大样本量（> 10，000），以便有足够的统计能力。除了可从广泛的精细定位的遗传定位，遗传关联效应的跨祖先定位的方法几乎总是有助于对致病多态性的鉴定。除了狼疮，其他表型是感兴趣的，我们的国家卫生研究院资助的社区的研究人员，包括干燥综合征，白塞氏病，结节病，类风湿性关节炎，糖尿病和恶性肿瘤。Illumina iScan（R）系统在这些参数方面是目前最好的系统。用户不仅可以进行SNP检测和拷贝数变异，还可以进行基因组规模的基因表达研究。基因分型能力尤其重要，因为计划进行具有超过100万个多态性的全基因组关联研究（GWAS），以及从1536到超过200，000个单核苷酸多态性（SNP）的定制阵列。通过在小型和大型项目中支持多个研究人员，包括在一些单一实验中超过14，000个样本，我们的主要瓶颈是阵列扫描时间。配备样品自动装载机的iScan系统将使我们的容量增加近40倍。这种能力将允许大量研究人员同时完成多个项目，以确定新的疾病基因，并在NIH资助的项目中检查疾病相关的途径。我们的研究人员拥有资金、专业知识和机构支持，可以充分利用所要求的仪器和这项技术将提供的信息。这项技术将在推进这项NIH支持的研究中发挥其最大的潜在价值。