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Illumina BeadStation 500GX

Illumina BeadStation 500GX
Illumina BeadStation 500GX
批准号:
7216474
负责人:
Sally A. Camper
金额:
$46.51万
依托单位国家:
美国
项目类别:
财政年份:
2007
资助国家:
美国
项目状态:
已结题
起止时间:
2007-03-15 至 2008-03-14

项目摘要

项目成果

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中文摘要
翻译
描述(由申请人提供):为了解决密歇根大学基因分型资源的严重短缺,我们寻求资金购买Illumina BeadStation 500GX和配件。有了这台仪器,我们将能够对全基因组人类样本中的30万个SNP进行高密度基因分型。所要求的仪器还将允许在人类或小鼠中对384或1536个SNP的定制面板进行分型,例如适用于遗传性状的精细绘图。最后,该仪器还将能够对人类或小鼠RNA分离物进行基因表达分析。我们已经确定了一组七个主要用户,他们目前有NIH资助的项目,这些项目将极大地促进该设备。在未来3年内,它们将占系统容量的至少70%。列出了其他很有可能使用该仪器的用户。Relevence:了解遗传疾病需要研究人员识别相关基因。要做到这一点,需要基因分型,这在以前是非常费力的,一直是研究的严重瓶颈。所要求的仪器克服了这一瓶颈,大大加快了密歇根大学的遗传研究。
英文摘要
DESCRIPTION (provided by applicant): To address a critical shortage of genotyping resources at the University of Michigan, we seek funding to purchase an Illumina BeadStation 500GX and accessories. With this instrument, we will be able to perform high-density genotyping on 300,000 SNPs in whole genome human samples. The instrument requested will also allow typing of custom panels of 384 or 1536 SNPs in either human or mouse, suitable for example for fine-mapping of genetic traits. Finally, the instrument will also be capable of performing gene expression analysis on human or mouse RNA isolates. We have identified a set of seven Major Users who have current NIH-funded projects that would be greatly facilitated by this device. They will account for at least 70% of the capacity of the system during the next 3 years. Other users are listed who are highly likely to make use of the instrument as well. Relevence: Understanding genetic diseases requires that the researcher identify the gene(s) involved. To do so requires genotyping, which was previously very laborious and has been a serious bottleneck in research. The requested instrument alleviates this bottleneck, greatly accelerating genetic research at the University of Michigan.
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会议论文
Discovery Pipeline for Genetic Defects in Hypothalamic-pituitary Development Using International Mouse Phenotyping Consortium Mice
High Throughput Functional Assessment SHH Signaling Variants Identified in Patients with Craniofacial Defects and Hypopituitarism
High Throughput Functional Assessment SHH Signaling Variants Identified in Patients with Craniofacial Defects and Hypopituitarism
Hypopituitarism: role of PROP1 and retinoic acid signaling in regulation of pituitary stem cell differentiation
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