UCSC Center for Genomic Science, and Minority Outreach Program

描述（由申请人提供）：UCSC基因组浏览器为全世界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5 000多名科学家在万维网上使用它，要求提供总共150 000多页信息。科学家检索有关人类基因序列的直接信息，它们在基因组中的位置，它们在不同组织中的正常表达水平，它们产生的选择性剪接mRNA，它们产生的蛋白质产物，以及人类群体中存在的遗传变异。 用户可以快速链接到NIH和其他地方的其他数据库，这些数据库提供了每个基因功能的详细信息，它与人类疾病的关联，以及已知的致病基因变体。 基因只占我们基因组的1.5%。我们基因组的其余部分含有重要的非蛋白质编码功能元件，控制基因表达和其他重要的细胞过程，如DNA包装和复制。UCSC基因组浏览器是第一批工具之一，使科学家能够开始探索我们基因组中这些非蛋白质编码功能元件的巨大未知景观，并确定它们如何影响我们的健康。像基因一样，这些其他功能元件在不同哺乳动物之间是进化保守的。我们通过人类基因组和其他哺乳动物（包括实验模型生物，小鼠和大鼠）基因组之间的比较，通过它们特殊的进化保守模式来识别这些元素。我们的跨物种DNA图谱为研究人员提供了一个机会，研究哺乳动物模式生物中与人类基因组中特定功能元件相对应的单个功能元件。通过这样的研究，我们将了解人类基因和我们基因组中非编码功能元件的功能。 通过绘制人与人之间重要的遗传差异并了解其功能后果，我们为未来的个性化医学奠定了基础，在这种医学中，治疗越来越适合个人。

DESCRIPTION (provided by applicant): The UCSC Genome Browser 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, requesting more than a total of 150,000 pages of information. Scientists retrieve direct information about the sequences of human genes, their location in the genome, their normal expression levels in different tissues, the alternatively spliced mRNAs they produce, the protein products they make, and the genetic variations that exist within them in the human population. Users get quick links to other databases at NIH and elsewhere that provide detailed information on each gene's function, its association with human disease, and known disease-causing variants of the gene. Genes make up only approximately 1.5% of our genome. The remaining parts of our genome harbor important non-protein-coding functional elements that control gene expression and other important cellular processes, such as DNA packaging and replication. The UCSC Genome Browser is one of the first tools that allows scientists to begin to explore the vast uncharted landscape of these non-protein-coding functional elements in our genome, and to determine how they affect our health. Like the genes, these other functional elements are evolutionary conserved between different mammals. We identify these elements through their exceptional patterns of evolutionary conservation, using comparisons between the human genome and the genomes of other mammals, including the experimental model organisms, mouse and rat. Our cross-species DNA mappings provide researchers a chance to study individual functional elements in mammalian model organisms that correspond to particular functional elements in the human genome. Through such research, we will learn the functions of both the human genes and the non-coding functional elements in our genome. By mapping the important genetic differences between people and understanding their functional consequences, we lay the groundwork for a future of individualized medicine, where treatment is increasingly tailored to the individual.