Genomic Research Project

项目摘要 人类全基因组测序和高质量注释的普及 基因组已经开始允许探索一些基因调控的机制 in an organismal有机scale规模in humans人类.直到最近，大多数努力都集中在 研究蛋白质编码区变异对人类表型的影响。 然而，随着许多全基因组调控注释的发布， 生物化学和遗传学，它已经开始成为可能分配假定的调控 非编码DNA的功能。这一点尤其重要，因为大多数人 与疾病相关的变异福尔斯落在基因体之外。作为一种资源， RegulomeDB提供了一个简洁的方法来分配假定的功能变化。 该提案的研究项目方面将扩大和支持RegulomeDB。我们 已经证明RegulomeDB为 社区在这里，我们将详细介绍为扩大 RegulomeDB利用实验室执行的大量数据 高通量组学研究。

PROJECT SUMMARY Prevalence of whole-genome sequencing and high-quality annotations of the human genome has started to allow exploration of some of the mechanisms of gene regulation on an organismal scale in humans. Until recently, most efforts have focused on examining the effect of variation in protein coding regions on human phenotype. However, with the release of many whole-genome regulatory annotations, both biochemical and genetic, it has started to become possible to assign putative regulatory function to non-coding DNA. This is particularly significant as a majority of human variation associated with disease falls outside of gene bodies. As a resource, RegulomeDB has provided a concise method to assign putative function to variation. The research project aspects of this proposal will expand and support RegulomeDB. We have demonstrated that RegulomeDB has provided a valuable resource to the community. Here we will detail the efforts required to expand the utility of RegulomeDB to take advantage of the vast array of data generated by labs performing high-throughput –omics research.