UCSC Center for Genomic Science and Minority Outreach Program

UCSC 基因组科学中心和少数族裔外展计划

• 批准号: 7685514
• 负责人: DAVID H HAUSSLER
• 金额: $ 321.97万
• 依托单位: UNIVERSITY OF CALIFORNIA SANTA CRUZ
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-07-12 至 2012-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7685514
• 关键词: Aging; Alleles; Animal Model; Area; Biological; Book Chapters; Cancerous; Cell Aging; Code; Comparative Genomic Analysis; Computer Simulation; Computer software; Copy Number Polymorphism; DNA Sequence Rearrangement; Data; Data Set; Databases; Disease; Documentation; Elements; Ensure; Equilibrium; Feedback; Floods; Genes; Genetic Polymorphism; Genome; Genomics; Germ Lines; Grant; Human; Human Genetics; Human Genome; Indium; Individual; Internet; Judgment; Knock-out; Large-Scale Sequencing; Light; Link; Location; Mails; Malignant Neoplasms; Maps; Medical; Minority Outreach Program; Modeling; Modification; Mutation; Occupations; Online Mendelian Inheritance In Man; Online Systems; Phenotype; Process; Proteins; RNA Splicing; Research; Research Personnel; Resources; Running; Scanning; Science; Scientist; Sequence Alignment; Services; Single Nucleotide Polymorphism; Site; Somatic Cell; Source; Tissues; Training; Transcript; Transgenic Organisms; Variant; Work; Writing; cell age; comparative; computer program; design; flexibility; gene function; genome sequencing; improved; journal article; model organisms databases; next generation; tool; tumor; vertebrate genome; web page; web site

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.

描述（由申请人提供）：genome.ucsc.edu 网站为全世界数以万计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。每天有超过 5,000 名科学家在万维网上使用它，为超过 150,000 个信息请求提供服务。该位点包括人类基因序列、它们在基因组中的位置、不同组织中的表达水平、选择性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。有一个综合视图提供了每个基因在正常和患病状态下的功能信息。该网站支持除人类以外的 31 个基因组，并进行多个基因组比对和其他比较基因组学分析。该分析与 ChlP/CHIP 等其他大规模数据一起揭示了监管区域和编码区域。 需要对该项目进行扩展，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交互，并为模式生物的转基因研究增加额外的支持。我们还提出了三个新项目，帮助将基因组学和更多以医学为导向的研究联系起来：(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) 支持人类生殖系以及癌细胞和衰老细胞多态性的新表现。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：至少一半的疾病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。