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中文摘要
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描述(由申请人提供):本共享仪器资助申请中的拟议工作来自克利夫兰诊所正在进行的许多临床和/或转化研究项目,克利夫兰诊所是俄亥俄州东北部地区的一家主要研究机构。该申请的目的是寻求资金购买下一代测序仪Illumina Genome Analyzer IIx。除了一个主要用户之外,所有用户都是由各种机制(R 01,P01,U 54等)资助的NIH/NCI。基因组分析仪具有强大的功能和灵活性,可实现广泛的基因组规模应用。该仪器是美国国立卫生研究院1000美元基因组计划的直接结果,代表了第一代进入市场的此类技术。底层技术可以概括为大规模并行测序(在典型的3-5天运行中创建2-4 GB的序列)。如申请中所述,支持的项目主要包括生物标志物发现和临床/转化科学研究,代表了我们机构的独特优势,并利用了下一代测序仪的所有当前应用:1)数字基因表达谱:比基于微阵列的谱更好的动态范围和低丰度转录本的可靠检测,2)ChIP-seq:与人类疾病相关的翻译研究计划中的DNA-蛋白质相互作用和表观遗传调控的全基因组谱,3)小或非编码RNA发现和4)基因组测序:对患者DNA中的大基因组区域进行重新测序以揭示致病突变。收购基因组分析仪,其规模和价值,是必不可少的提升目前NIH资助的项目和许多其他新项目,以下一个更高水平的转化科学在东北俄亥俄州。克利夫兰诊所已经投入了大量资源来发展转化基因组学和基因组医学,包括成立基因组医学研究所,建立新的基因组核心设施,人员监督运营和财政计划,以确保其长期运营和维护。
英文摘要
DESCRIPTION (provided by applicant): The proposed work in this shared instrumentation grant application comes from many of the clinical and/or translational research programs ongoing at the Cleveland Clinic, a major research institution in the northeast Ohio region. The purpose of this application is to seek funding to purchase a next generation sequencer, the Illumina Genome Analyzer IIx. All but one of the major users is NIH/NCI funded by a variety of mechanisms (R01, P01, U54, etc). The Genome Analyzer has the power and flexibility to enable a wide range of genome-scale applications. The instrument is a direct consequence of the NIH initiative for the $1000 genome and represents the first generation of such technologies to come to the market. The underlying technology can be summarized as massive parallel sequencing (creating 2-4 GB of sequence in a typical 3-5 day run). As detailed in the application, the supported projects primarily include biomarker discovery and clinical/translational sciences studies, representing the unique strengths in our institution and taking advantage of all current applications of the next generation sequencers: 1) digital gene expression profiling: better dynamic range than micro-array based profiling and reliable detection of low-abundance transcripts, 2) ChIP-seq: genome wide profiles of DNA-protein interaction and of epigenetic regulation in translational research programs related to human disease, 3) small or non-coding RNA discovery and 4) genome sequencing: re- sequencing of large genomic regions in patient DNA to uncover disease causing mutations. The acquisition of the Genome Analyzer, with its scale and value, are essential in lifting the currently NIH-funded projects and many other new projects to the next higher level of translational sciences in northeast Ohio. Cleveland Clinic has already committed substantial resources to the development of translational genomics and genomic medicine, including the founding of its Genomic Medicine Institute with a new Genomics Core Facility, personnel to oversee operations and a fiscal plan to ensure its operation and maintenance for the long-term.
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会议论文
The 6th Annual International PTEN Symposium: From Patient-Centered Research to Clinical Care
Modeling Autism and Comorbid Cancer Risk in Individuals with Germline PTEN Mutations
Modeling Autism and Comorbid Cancer Risk in Individuals with Germline PTEN Mutations
Natural history of individuals with autism spectrum disorder and germline PTEN mutations
  • 批准号:
    10242080
  • 项目类别:
  • 资助金额:
    $38.93万
  • 财政年份:
    2014
  • 负责人:
    Charis Eng
  • 依托单位:
海外基金