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5 000多名科学家通过万维网使用该网站，为150 000多项信息请求提供服务。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、可变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疾病状态下的功能信息。该网站支持除人类以外的31个基因组，并提供多个基因组比对和其他比较基因组学分析。这种分析，沿着其他大规模数据，如ChIP/CHIP，揭示了调控以及编码区。 需要扩大该项目，以处理大量额外的基因组和其他大型数据集，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相互作用，并为模式生物的转基因研究提供额外的支持。我们还提出了三个新的项目，以帮助将基因组学和更多的医学研究联系在一起：（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）支持在生殖细胞系和癌细胞和衰老细胞中人类多态性的新表示。通过帮助科学家将基因组的变化与医学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：所有疾病中至少有一半具有重要的基因组成分。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.