NHLBI DNA Re-sequencing and Genotyping Program

首席研究员：塞缪尔·利维博士 目标摘要：基因组学促进中心(TCAG)提出了一种基于高度先进的ONA测序技术和新的信息学工具的应用来对基因和基因组区域进行重新排序的最新方法。这项计划将由来自TCAG、基因组研究所(TIGR)和联合技术中心(JTC)的高技能团队执行，从NHLBI选择的基因和ONA样本开始，我们将优化聚合酶链式反应(PCR)，扩增800 bp长的ONA区域，用于后续基于毛细管的染料终止子测序，我们的科学战略旨在实现高精度的ONA测序，使用平铺策略确保每个核苷酸的两倍覆盖，并促进使用软件进行自动化多态呼叫，使用信号处理方法进行序列跟踪。在初始测序不能达到预期精度的情况下，将进行额外的测序反应以确保所需的质量。

PRINCIPAL INVESTIGATOR: Dr. Samuel Levy SUMMARY OF OBJECTIVES: The Center for Advancement in Genomics (TCAG) proposes a state of the art approach to resequence genes and genomic regions based on the application of highly advanced ONA sequencing technology and novel informatics tools. This program will be performed by a highly skilled team from the TCAG, The Institute for Genomic Research (TIGR) and the Joint Technology Center (JTC), Starting with genes and ONA samples selected by the NHLBI, we will optimize the polymerase chain reaction (PCR) to amplify ONA regions 800 bp in length for subsequent capillary based dye-terminator sequencing, Our scientific strategy, aimed toward achieving highly accurate ONA sequencing, uses a tiling strategy that assures two-fold coverage of each nucleotide, and facilitates the use of software for automated polymorphism calls using signal processing approach to sequence traces. In instances where this initial sequencing does not achieve the desired accuracy, additional sequencing reactions will be performed to assure the required quality.