DNA SEQUENCER 96 CAPILLARIES: GENETICS, GENE THERAPY

该子项目是利用由NIH/NCRR资助的共享仪器补助金提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是资助机构，不一定是研究者的机构。ABI 48毛细管3730 DNA测序仪是宾夕法尼亚大学DNA测序设备的主要测序仪器。该NCRR共享仪器拨款申请要求资助将48毛细管测序仪升级为96毛细管3730XL格式，以降低成本和更快的周转时间满足对高通量DNA测序的日益增长的需求。3730测序仪目前用于为机构研究人员提供可靠的、长读取的、自动化的DNA测序和基于微卫星的基因分型。这些服务对于研究人员的各种目的至关重要，包括但不限于寻找可能与包括癌症和糖尿病在内的疾病发病机制相关的候选基因的改变，或研究在基因组中观察到的各种DNA重复元件之间发现的序列变异的进化意义。DNA测序、基因分型、模板制备和其他分子生物学程序的综合服务使该核心能够为分子遗传学研究提供全面支持，从实验设计咨询到获得数据的分析和解释的生物信息学支持。DNA测序设施是宾夕法尼亚大学的主要研究服务，在过去三年中，测序样本的数量稳步增长（约25%）。预计2005年的数字是10.4万。最近，根据核心咨询委员会的建议，该设施以非常实惠的成本引入了高通量测序，以满足本申请中提到的研究人员的大规模测序要求。因此，测序样本的数量预计将以每年25%的速度增长。周转时间可能会受到现有容量的影响，因为目前，48毛细管测序仪几乎满负荷运行。为了跟上高容量用户使用量的最新增长，并保持目前24小时的周转时间，我们建议升级到96毛细管测序仪。这种升级的成本大约是新的48毛细管测序仪价格的一半。这将使测序和基因分型的能力翻倍，并将导致更高的吞吐量，更快的周转时间，并进一步降低成本，这将有利于大量用户以及所有NIH资助的用户和宾夕法尼亚大学的其他用户。

This subproject is one of many research subprojects utilizing the resources provided by a Shared Instrumentation Grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the grant, which is not necessarily the institution for the investigator. DESCRIPTION (provided by applicant): ABI 48-capillary 3730 DNA Sequencer is the major sequencing instrument of the DNA Sequencing Facility at the University of Pennsylvania. This NCRR Shared Instrument Grant application requests funding for an upgrade of the 48-capillary Sequencer to 96-capillary 3730XL format to meet the increased demand for high throughput DNA sequencing at a reduced cost and faster turn-around time. The 3730 sequencer is currently used to provide institutional investigators reliable, long read, automated DNA sequencing, and microsatellite-based genotyping. These services are essential to investigators for various purposes including, but not limited to, searching for alterations in candidate genes that may be associated with the pathogenesis of disease including cancer and diabetes or studying the evolutionary significance of sequence variations found among various DNA repeat elements observed in the genome. The integrated service for DNA sequencing, genotyping, template preparation, and other molecular biological procedures enables this core to provide full support for molecular genetic investigations, from consultation in experimental design to bioinformatic support for analysis and interpretation of the acquired data. The DNA Sequencing Facility is a major research service at Penn as demonstrated by a steady increase (~25%) in the number of sequencing samples processed during last three years. The projected number in 2005 is 104,000. Recently, following the recommendation of the core advisory committee, the facility has introduced high throughput sequencing at a very affordable cost to meet the large scale sequencing requirements of the investigators mentioned in this application. As a result, the number of sequencing samples is now projected to increase by an additional 25% every year. The turnaround time is likely to be compromised with the existing capacity since, at present, the 48-capillary sequencer is being operated almost at full capacity. To keep pace with the latest growth in usage from the high volume users and maintain the current turnaround time of 24 hrs, we propose to upgrade to 96-capillary sequencer. The cost of this upgrade is about half the price of a new 48-capillary sequencer. This will double the capabilities for sequencing and genotyping and will lead to higher throughput, faster turnaround time, and a further lowering of cost that will be beneficial to the high volume users as well as to all NIH funded and other users at Penn.