RegulomeDB: A Resource for the Human Regulome

RegulomeDB：人类调节组资源

• 批准号: 10024325
• 负责人: Alan P Boyle
• 金额: $ 69.74万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-02-01 至 2025-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10024325
• 关键词: Adopted; Affect; Algorithms; Alleles; Back; Binding; Biochemical; ChIP-seq; Chromatin; Communities; Computer software; Country; DNA; DNA Methylation; DNA sequencing; DNA-Protein Interaction; Data; Data Set; Data Sources; Databases; Development; Disease; Documentation; Electronic Mail; Elements; Follow-Up Studies; Gene Expression; Gene Expression Regulation; Genes; Genetic; Genome; Genomics; Goals; Human; Human Genome; Human Resources; Individual; Investigation; Knowledge; Laboratories; Large-Scale Sequencing; Literature; Maintenance; Malignant Neoplasms; Medical Research; Methods; Modeling; Modernization; Nucleic Acid Regulatory Sequences; Nucleotides; Process; Production; Public Health; Publishing; Pythons; Quality Control; Regulatory Element; Research; Research Personnel; Resolution; Resources; Sampling; Scoring Method; Site; Source; Structure; System; Techniques; Tissues; Training; Untranslated RNA; Update; Variant; Work; analysis pipeline; base; cell determination; cell type; chromatin modification; computer program; data integration; data wrangling; de novo mutation; epigenome; experimental study; functional genomics; gene function; genome annotation; genome sequencing; genome wide association study; genome-wide; genomic data; heuristics; improved; meetings; outreach; random forest; social media; tool; transcription factor; web platform; web site; web-accessible; whole genome

PROJECT SUMMARY The Human RegulomeDB project provides an essential resource that facilitates medical research and exploratory investigations of gene regulation. The majority of sequence variation identified in genome sequencing projects and disease association studies (GWAS) lie within the 98% of the human genome that is non-exomic. RegulomeDB is a unique web accessible resource that provides integrated knowledge of the wealth of existing information concerning regulatory elements that lie within non-exomic regions. The unique feature of this resource is its ability to comprehensively annotate, integrate and display the experimentally defined functional and biochemical regulatory elements of the human genome. Information generated from individual laboratories and consortia concerning potential regulatory regions such as that affecting gene expression, transcription factor binding, chromatin modification and DNA methylation will be collected from the literature, and integrated into a common database and displayed at nucleotide resolution. The information can be readily accessed via a web accessible interface and related to sequence variations identified from large scale projects (e.g. db SNPs, 1000 genome project, GWAS studies). Researchers will be able to compare variants identified from personal genomes and large scale sequencing projects as well as GWAS studies to the wealth of information in RegulomeDB, and thereby rapidly gain knowledge of non-exomic information. Given the wealth of DNA sequencing project that are emerging, we expect this unique resource to have wide impact in the biomedical community.

项目概要 Human RegulomeDB 项目提供了促进医疗的重要资源 基因调控的研究和探索性调查。大多数序列变异 基因组测序项目和疾病关联研究（GWAS）中发现的 98% 的人类基因组是非外显子组。 RegulomeDB 是一个独特的网络可访问数据库 提供有关以下方面的大量现有信息的综合知识的资源 位于非外显子区域内的调控元件。该资源的独特之处在于 全面注释、整合和显示实验定义的功能的能力 和人类基因组的生化调节元件。信息生成自 涉及潜在监管区域的个别实验室和联盟，例如 影响基因表达、转录因子结合、染色质修饰和 DNA 甲基化将从文献中收集，并整合到一个通用数据库中 以核苷酸分辨率显示。这些信息可以通过网络轻松访问 可访问的界面并与从大型项目（例如， db SNP、1000 个基因组计划、GWAS 研究）。研究人员将能够比较变体 从个人基因组和大规模测序项目以及 GWAS 研究中鉴定出 RegulomeDB 中丰富的信息，从而快速获得非外显子的知识 信息。鉴于正在出现的大量 DNA 测序项目，我们预计这 在生物医学界产生广泛影响的独特资源。