RegulomeDB: A Resource for the Human Regulome

项目摘要 Human RegulomeDB项目提供了一个重要的资源， 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）中发现的基因组序列， 98%的人类基因组是非外显子组。RegulomeDB是一个独特的Web访问 一种资源，提供关于以下方面的丰富现有信息的综合知识 位于非外显子组区域内的调控元件。这种资源的独特之处在于它 能够全面注释、集成和显示实验定义的函数 和人类基因组的生化调控元件。生成的信息 关于潜在监管区域的单个实验室和联盟， 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，并整合到共同的数据库中， 以核苷酸分辨率显示。这些信息可以通过网络很容易地访问 可访问的界面，并与从大规模项目中识别的序列变异相关（例如， db SNP，1000基因组计划，GWAS研究）。研究人员将能够比较 从个人基因组和大规模测序项目以及GWAS研究中发现 RegulomeDB中丰富的信息，从而快速获得非外显子组的知识 信息.考虑到正在出现的DNA测序项目的丰富性，我们预计 独特的资源，在生物医学界产生广泛的影响。

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.