RegulomeDB: A Resource for the Human Regulome

项目总结 Human RegulomeDB项目提供了必要的资源，以促进医疗 基因调控的研究和探索性调查。大多数序列变异 在基因组测序项目和疾病关联研究(GWAS)中确定的 98%的人类基因组是非外显子的。RegulomeDB是唯一可通过Web访问的 提供有关以下方面的现有信息的综合知识的资源 位于非外显性区域的调控因素。这个资源的独特之处在于它的 能够全面地注释、集成和显示实验定义的功能 以及人类基因组的生化调控元件。从以下来源生成的信息 关于潜在监管区域的个别实验室和财团，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，并整合到一个公共数据库和 以核苷酸分辨率显示。这些信息可以很容易地通过网络访问 可访问的接口，并与从大型项目中确定的序列变化相关(例如 数据库SNPs，1000基因组计划，全球气候变化研究)。研究人员将能够比较变种 从个人基因组和大规模测序项目以及GWAS研究中鉴定 在RegulomeDB中获取丰富的信息，从而快速获得非外显性知识 信息。考虑到正在涌现的丰富的DNA测序项目，我们预计 在生物医学界具有广泛影响力的独特资源。

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.