Genome-Wide Analysis of Genetic Variation and Expression

描述（由申请人提供）：本中心的卓越基因组 科学将提供两个主要的活动，在基因组学在大学 宾夕法尼亚首先，它将汇集调查人员， 致力于遗传学，在一个新的相互关联的一套研究计划， 遗传变异的基因组学第二，该中心将在 通过提供研究生学位，为支持宾夕法尼亚大学的基因组学教育做出贡献。 研究生奖学金支持。本项目将解决这一现象 通过在全基因组水平上系统地检查表达谱， 微阵列技术，和相对同质的细胞系收集从 CEPH家庭。这个项目将确定显示多态性的网站， 存在/不存在L1移动的要素的整合。 这些位点将与基因表达水平的变化相关 测定该项目将识别和表征多态性 染色体端粒区域的变异。这些文件也将 与表达水平的变化相关。

DESCRIPTION (provided by applicant): This Center for Excellence in Genomic Science will provide two major activities in genomics at the University of Pennsylvania. First, it will bring together investigators with a long-standing commitment to genetics, in a new inter-related set of research programs in the genomics of genetic variation. Second, the Center will make a substantial contribution to support of Genomics education at Penn, by providing graduate and postgraduate fellowship support. This project will address this phenomenon by systematically examining expression profiles on a genome-wide level, using microarray technology, and a relatively homogeneous collection of cell lines from the CEPH families. This project will identify sites showing polymorphism for presence/absence of integration by L1 mobile elements. These sites will then be related to the variation in gene expression level determined. This project will identify and characterize the polymorphic variation in chromosomal telomeric regions. These will also be mapped with relation to variation in expression level.