UCSC Center for Genomic Science and Minority Outreach Program

描述(由申请人提供)：genome.ucsc.edu网站为世界各地成千上万的科学家和医学研究人员提供了访问参考人类基因组序列的主要点。每天有5000多名科学家在万维网上使用它，为超过15万条信息请求提供服务。该站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、可选的剪接转录本和蛋白质产品。用户可以快速链接到其他数据库。有一个综合的观点，提供了关于每个基因在正常和疾病状态下的功能的信息。该网站除了支持人类外，还支持31个基因组，并产生多个基因组比对和其他比较基因组学分析。这一分析与ChlP/ChIP等其他大规模数据一起，揭示了调控区域和编码区。 需要对该项目进行扩展，以处理额外基因组和其他大型数据集的洪流，进一步发展比较基因组学，改进基因集，增加与其他数据库的互动，并为模式生物中的转基因研究增加额外的支持。我们还提出了三个新的项目来帮助将基因组学和更多面向医学的研究联系在一起：(1)一套用于SNP关联研究和其他基因组扫描的工具，(2)支持医学测序和识别致病突变的工具，以及(3)支持在生殖系以及癌症和老化细胞中表示人类多态的新方法。通过帮助科学家将基因组的变化与医学上相关的表型联系起来，这些新项目将极大地促进下一代疾病研究。 相关性：至少一半的所有疾病都有大量的基因组成分。这项工作将帮助科学家更好地了解这些疾病，并开发新的治疗方法。

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.