Automated High Throughput DNA Sequencer

描述（由申请人提供）：要求资金购买应用生物系统公司3730型（48毛细管）DNA分析仪（以下简称ABI 3730），以及软件，外围设备和服务协议，使该设备能够达到我们预期的吞吐量和速度水平。目前和未来几年，ABI 3730代表了自动化DNA测序的标准，在软件和测序化学方面进行了十多年的研究和开发。ABI 3730是一款高通量DNA测序仪。对于标准的读取测序运行（每次运行约650个碱基），3730可以运行约1150个样本/天，每天总共测序约750,000个碱基。该仪器的容量将足以满足预期的测序需求，包括适应Kimmel癌症中心（KCC）新主任Richard G. Pestell博士招聘后迅速扩大的教职员工的需求。目前，我们的测序需求是由陈旧的设备来满足的，这些设备已经过时，无法维修。制造商将不再支持这种旧设备，服务合同也不再有效，更换零件也不再有效。由于我们的旧测序设备的使用年限越来越长，可靠性越来越低，加上现有研究人员对测序的需求不断增加，以及KCC在新主任的领导下招募了大量新研究人员（多达20人），我们将需要新的最先进的DNA测序设备。此外，还需要具备通过单碱基扩展进行SNP/突变分析的能力。ABI 3730（48毛细管）DNA分析仪可以满足所有这些需求，它可以在48根毛细管阵列上执行DNA测序，单碱基延伸和荧光片段分析（GeneScan）。这项应用的长期目标是阐明几种人类疾病的分子基础，包括癌症、心血管和肾脏疾病、皮肤病、结缔组织疾病和糖尿病。在所有这些领域，特定的目标集中在DNA测序，以确定潜在的疾病病理的遗传改变。的相关性。了解人类疾病的分子基础的核心是确定导致疾病的基因水平的变化。为此，我们要求拨款购买最先进的DNA测序仪，使我们能够确定几种人类疾病的具体基因变化，包括癌症、心脏病和肾病、皮肤病、结缔组织疾病和糖尿病。所获得的信息将有助于改善对这些严重且往往致命的疾病的预防、诊断和治疗。

DESCRIPTION (provided by applicant): Funds are requested to purchase an Applied Biosystems Model 3730 (48 capillary) DNA Analyzer (referred to below as ABI 3730), together with software, peripherals and service agreement that will allow the unit to perform to our anticipated level of throughput and speed. At present and for several years to come, the ABI 3730 represents the standard for automated DNA sequencing, with over a decade of research and development in software and sequencing chemistry behind it. The ABI 3730 is a high-throughput DNA sequencer. For standard read sequencing runs (around 650 bases per run), the 3730 can run about 1150 samples/day, for a total of approximately 750,000 bases sequenced per day. The instrument's capacity will be adequate to handle the anticipated demands for sequencing, including the need to accommodate the rapidly expanding faculty of the Kimmel Cancer Center (KCC) following the recruitment of its new Director, Dr. Richard G. Pestell. At present, our sequencing needs are being met by old equipment which is outmoded and no longer repairable. The manufacturer no longer will support this old equipment, service contracts are no longer available, nor are replacement parts. Because of the increasing age and decreasing reliability of our old sequencing equipment, along with the increasing demand for sequencing from current researchers and the large number of new investigators (up to 20) being recruited for the KCC under its new Director, we will require new state-of-the-art DNA sequencing equipment. In addition, features such as capability to perform SNP/mutation analysis by single-base extension, will be required. All these needs are met in the ABI 3730 (48 capillary) DNA Analyzer, which can perform DNA sequencing, single base extension and fluorescent fragment analysis (GeneScan) on an array of 48 capillaries. The long term objective of this application is the elucidation of the molecular basis for several human diseases, including cancer, cardiovascular and renal disease, skin disease, connective tissue disease, and diabetes. In all these areas, the specific aims focus on DNA sequencing to determine the genetic alterations underlying the disease pathology. Relevance. Central to understanding the molecular basis of human diseases is the determination of the changes at the gene level that underlie the disease. In order to do this, funds are requested to purchase a state-of-the-art DNA sequencer that will allow us to determine the specific genetic changes involved in several human diseases, including cancer, heart and kidney disease, skin disease, connective tissue disease, and diabetes. The information acquired will help to improve prevention, diagnosis, and treatment of these serious and often fatal diseases.