Genome-Wide Analysis of Genetic Variation and Expression

描述(由申请者提供)：该基因组卓越中心 科学将在华盛顿大学提供两项主要的基因组学活动 宾夕法尼亚州。首先，它将把调查人员与长期存在的 致力于遗传学，在一套新的相互关联的研究计划中 遗传变异的基因组学。第二，该中心将做出实质性的 为支持宾夕法尼亚大学的基因组学教育做出贡献，提供研究生 和研究生奖学金支持。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，使用 微阵列技术，以及来自 塞夫家族。这个项目将确定网站显示多态的 存在/不存在L1移动单元的集成。 这些位点将与基因表达水平的变化有关 下定决心。该项目将确定和表征多态 染色体端粒区的变异。这些也将是 与表达水平的变化有关的映射。

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.