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

描述（由申请人提供）：申请资金购买应用生物系统公司3730 DNA分析仪。本次NCRR共享仪器拨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科学核心（DSC）购买急需的应用生物系统3730（48毛细管遗传分析仪）。该研究所的使命是提供卓越和创新的病人护理，培训卫生专业人员，创造和分享卫生知识，从而造福人类健康，提高生活质量。具体而言，本申请的目标是：1)提高测序结果的数据质量；2)降低DNA测序操作的成本；3)满足预期的DNA测序需求的增长；4)恢复和扩大基因分型和SNP分析。DSC是一个非常频繁使用的设施，为弗吉尼亚大学提供DNA相关服务，特别是为美国国立卫生研究院资助的医学院的研究人员提供服务。这个共享资源设施为大约350名主要研究人员提供服务，其中200多名是DNA测序的用户。目前，核心使用的是一台应用生物系统公司的3100基因分析仪，几乎满负荷工作，这不足以满足日益增长的DNA测序需求。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，研究人员已被拒绝或搁置此类研究项目。DNA测序服务本身受到这种仪器继承的相对较高的成本的阻碍。许多研究人员都熟悉新一代3730/3730xl仪器，并希望很快能在弗吉尼亚大学使用这种仪器。该仪器将大大提高DSC在DNA测序、片段分析、SNP/突变检测和分析等方面的应用。DSC在DNA测序和其他遗传分析方面有超过10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包括生物信息学在内的一系列综合分析。我们在咨询方面的专业知识，整合DNA测序数据与其他遗传信息的能力，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，为了保持这种状态，我们需要跟上新技术的步伐。有了这个新的3730，我们作为中高通量设备的使命将在以下三个重要方面实现：1)DNA测序，2)基因分型，包括应用生物系统SpaPshot的微卫星和SNP分析，以及3)应用生物系统oligo48-plex SNPlex分析的高通量SPN筛选。

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.