Genome Sequencing

项目总结 下一代测序现在是分析重要的信号通路的中心工具 发展和疾病。基因组测序核心(GSC)旨在为研究人员提供 堪萨斯大学和堪萨斯州的下一代测序技术以及 在实验设计和序列数据分析方面的专业知识。GSC中的项目包括全基因组 组装，基因组重新测序以鉴定在发育和疾病中重要的突变， 转录组分析(RNA Seq)、变异图谱和基因分型以及转录因子的鉴定 染色质免疫沉淀结合DNA测序的相互作用位点(CHIP SEQ)。GSC 配备Illumina HiSeq 2500测序器和配备专用处理器和存储的MiSeq测序器 用来运行乐器的空间。 这一核心设施加强了KU现有的基因组基础设施，KU基因组中心和 KU DNA测序设施，提供标准的第一代测序。三人加在一起， 核心允许使用新的荧光探针对疾病途径进行彻底、集成的剖析 定义一个细胞过程，发现影响该细胞过程的突变，并定义参与 细胞过程。CMADP的新方法是结合荧光使能技术 探索合成化学和下一代测序为疾病靶标发现建立管道 小路。 下一代测序是一项使能技术，因为它有能力让调查人员从 许多不同的学科在他们感兴趣的研究领域提出新的问题。GSC使基因组学成为可能 堪萨斯大学的一项研究，通过消除使用时涉及的成本和沟通障碍 校外设施。堪萨斯大学对下一代测序的兴趣很高，包括 药学院、分子生物科学系和医学系的研究人员 生态学和进化生物学。GSC的使用将由科布雷分子中心的项目使用 疾病路径的分析，以及堪萨斯州和许多不同地区的研究人员所做的 纪律。

PROJECT SUMMARY Next generation sequencing is now a central tool in the analysis of signaling pathways important in development and disease. The Genome Sequencing Core (GSC) is aimed at providing researchers at the University of Kansas and the state of Kansas with next-generation sequencing technologies as well as expertise in experimental design and analysis of sequence data. Projects in the GSC include whole genome assembly, genome re-sequencing for identification of mutations important in development and disease, transcriptome analysis (RNA seq), variant mapping and genotyping, and identification of transcription factor interaction sites using chromatin immunoprecipitation combined with DNA sequencing (ChIP seq). The GSC houses an Illumina Hiseq 2500 sequencer and a MiSeq sequencer with dedicated processor and storage space to run the instrument. This core facility has enhanced the genomics infrastructure already at KU, in the KU Genomics Center and the KU DNA Sequencing Facility, which provides standard, first generation sequencing. Together, the three cores allow for a thorough, integrated dissection of disease pathways using novel fluorescence probes to define a cellular process, to find mutations affecting that cellular process, and to define genes involved in the cellular process. The novel approach of the CMADP is to combine the enabling technologies of fluorescent probe synthetic chemistry and next generation sequencing to set up a pipeline for target discovery in disease pathways. Next generation sequencing is an enabling technology in that it has the power to allow investigators from many different disciplines to ask new questions in their research areas of interest. The GSC enables genomics research at the University of Kansas by eliminating the barriers of cost and communication involved with using off-campus facilities. Interest in next generation sequencing at the University of Kansas is high, and includes investigators in the Pharmacy School, the Department of Molecular Biosciences, and the Department of Ecology and Evolutionary Biology. Use of the GSC will be by Projects in the COBRE Center for Molecular Analysis of Disease Pathways, as well as by researchers across the State of Kansas and in many different disciplines.