UCSC Center for Genomic Science and Minority Outreach Program

描述（由申请人提供）：genome.ucsc.edu网站为全世界成千上万的科学家和医学研究人员提供了获取参考人类基因组序列的主要途径。每天有5000多名科学家在万维网上使用它，为超过15万份信息请求提供服务。该位点包括人类基因序列、它们在基因组中的位置、在不同组织中的表达水平、可选剪接转录物和蛋白质产物。用户可以快速链接到其他数据库。有一个综合的观点，提供了每个基因在正常和患病状态下的功能信息。该网站支持除人类之外的31个基因组，并提供多个基因组比对和其他比较基因组分析。该分析与其他大规模数据（如ChlP/CHIP）一起，揭示了调控区和编码区。

DESCRIPTION (provided by applicant): The genome.ucsc.edu web site provides the primary point of access to the reference human genome sequence for many tens of thousands of scientists and medical researchers worldwide. It is used over the World Wide Web by more than 5,000 scientists each day, servicing more than 150,000 requests for information. The site includes human gene sequences, their location in the genome, expression levels in different tissues, alternatively spliced transcripts, and protein products. Users get quick links to other databases. There is an integrated view that provides information on each gene's function in normal and diseased states. The site supports 31 genomes in addition to human, and produces multiple genome alignments and other comparative genomics analysis. This analysis, along with other large scale data such as ChlP/CHIP, sheds light on regulatory as well as coding regions. Expansions to the project are needed to handle the flood of additional genomes and other large data sets, to further develop comparative genomics, to improve the gene sets, to increase interactions with other databases, and to add additional support for transgenic studies in model organisms. We also propose three new projects to help link together genomics and more medically oriented research: (1) a suite of tools for working with SNP association studies and other genomic scans, (2) tools to support medical sequencing and identify causative mutations, and (3) support for new representations of human polymorphism both in the germ line and in cancerous and aging cells. By helping scientists tie changes in the genome to medically relevant phenotypes, these new projects will greatly facilitate the next generation of disease studies. Relevance: At least half of all diseases have a substantial genomic component. This work will help scientists better understand these diseases, and develop new treatments.