Acquision of Appllied Biosystems 3730 DNA Analyzer for the DNA Sciences Core

描述(申请人提供)：申请资金购买应用生物系统3730DNA分析仪。这项NCRR共享仪器赠款申请的总体目标是获得资金，为弗吉尼亚大学医学院的DNA Science Core(DSC)购买急需的应用生物系统3730(48毛细管遗传分析仪)。该研究所的使命是在病人护理、健康专业人员的培训以及健康知识的创造和分享方面提供卓越和创新，从而造福人类健康和提高生活质量。具体地说，为本应用设定的目标是：1)提高测序结果的数据质量，2)降低DNA测序操作的成本，3)满足DNA测序需求的预期增长，以及4)恢复和扩大基因分型和SNP分析。DSC是一个使用量很大的机构，在整个弗吉尼亚大学提供DNA相关服务，特别是在医学院提供NIH资助的研究人员。这一共享资源设施为大约350名主要研究人员提供服务，其中200多人是DNA测序的用户。目前，核心是使用单个应用生物系统3100遗传分析仪在接近满负荷的情况下运行，这不足以满足DNA测序日益增长的需求。此外，由于目前的3100测序仪无法进行基因分型或其他DNA变异分析，因此此类研究项目的调查人员被拒之门外或被搁置。DNA测序服务本身一直受到这种仪器类型继承的相对较高的成本的阻碍。许多研究人员对新一代3730/3730xl仪器了如指掌，并希望很快就能在弗吉尼亚大学接触到这种仪器。该仪器将极大地提高DNA测序、片段分析、SNP/突变检测与分析等在DSC中的应用。DSC在DNA测序和其他基因分析方面拥有10多年的操作经验。它为整个医学院和弗吉尼亚大学的基因组研究提供了大量的综合分析，包括生物信息学。我们在咨询方面的专业知识、将DNA测序数据与其他遗传信息相结合的能力以及多种分析的增值包装使内部DNA测序服务仍然是研究人员的首选。然而，为了保持这一地位，我们需要与新技术保持同步。有了这台新的3730，我们作为中高通量设施的使命将在以下三个重要方面完成：1)DNA测序，2)基因分型，包括使用应用生物系统SpaPshot进行MicroUniversal lite和SNP分析，以及3)使用应用生物系统Olio48-Plex SNPlex分析进行更高吞吐量的SPN筛查。

DESCRIPTION (provided by applicant): Application for Funding to Acquire Applied Biosystems 3730 DNA Analyzer. The overall objective of this NCRR Shared Instrument Grant application is to obtain funding to purchase a much-needed Applied Biosystems 3730 (48 capillary Genetic Analyzer) for the DNA Sciences Core (DSC) at the University of Virginia School of Medicine. The mission of this institute is to provide excellence and innovation in the care of patients, the training of health professionals and the creation and sharing of health knowledge and in doing so to benefit human health and improve the quality of life. Specifically, the goals set for the present application are to: 1) improve the data quality of the sequencing results, 2) lower the cost of DNA sequencing operations, 3) meet the anticipated increase of DNA sequencing demands, and 4) resume and expand genotyping and SNP analyses. The DSC is a very heavily used facility providing DNA related services throughout the University of Virginia in general and NIH-funded investigators in the School of Medicine in particular. This shared resource facility serves approximately 350 principal investigators of which over 200 are users of DNA sequencing. At the present, the core is operating with a single Applied Biosystems 3100 Genetic Analyzer at near-full capacity workload, which is not sufficient to meet the increasing needs in DNA sequencing. In addition, since the present 3100 sequencer is incapable to run genotyping or other DNA variation assays, investigators have been turned away or put on hold for such research projects. The DNA sequencing service itself has been hampered by the relatively high cost that is inherit to this instrument type. Many investigators are knowledgeable of the new generation 3730/3730xl instrument and are hopeful to soon have access to this instrument at the University of Virginia. With the new instrument, the applications in the DSC such as DNA sequencing, fragment analysis and SNP/mutation detection and analysis will be greatly enhanced. DSC has more than 10 years of operational experience in DNA sequencing and other genetic analyses. It offers a host of comprehensive analysis including bioinformatics for genome research throughout the School of Medicine and the University of Virginia. Our expertise in consultation, the ability to integrate the DNA sequencing data with other genetic information and the value-added packaging of multiple analyses makes in-house DNA sequencing service still a preferred option for the investigators. However, to maintain this status, we need to keep abreast with the new technology. With this new 3730, our mission as a medium to high-throughput facility will be fulfilled in the following three important fronts: 1) DNA sequencing, 2) Genotyping including microsatilite and SNP analyses with Applied Biosystems SpaPshot , and 3) higher throughput SPN screening with Applied Biosystems oligo48-plex SNPlex analysis.