A Catalog of Cell Types and Genomic Elements in Tissues, Organoids and Disease

项目概述：NHGRI的ENCODE项目旨在开发一个全面的功能目录 人类基因组中的序列元素。ENCODE4的目标是继续催化基因组研究 通过捕获新的元素并精确定义每个元素所作用的细胞和组织类型(S)。对这件事 最后，测绘中心将在主要阶段积累约1000个不同的生物样本 Encode4。对这些样本进行不同检测的优先顺序，以最大限度地提高覆盖率和实用性 对ENCODE4的研究一直是由生物样本工作组领导的一项持续努力。到主要阶段结束时 在该项目中，我们的测绘中心将为以下项目提供染色质状态数据(6个组蛋白标记和CTCF 306个这样的生物样本。在第5年，我们建议增加105个染色质状态数据 生物样本。这意味着项目主要阶段的吞吐量有所增加。此外，我们还将 80例不同阿尔茨海默病患者大脑背外侧前额叶皮质的研究 在第4年和第5年，作为不同的资金补充的一部分。在第五年，我们将继续绘制染色质状态图 使用两种技术：芯片序列和薄荷。选择生物样本是为了最大限度地与其他 测绘中心，基因组覆盖，生物空间覆盖，以及百科全书的用途。在……里面 综上所述，该联盟和我们的测绘中心继续致力于建立一个全面的黄金标准数据集 候选功能元件及其细胞环境。为此，ENCODE项目第四阶段有 收集了一组关键的生物样本和数据。鉴于关键基础设施已经建立， 我们的测绘中心正处于极其高效的运行阶段，关键的生物样本已在手中， 通过完成染色质状态，可以在很大程度上经济高效地放大该项目的影响 在第5年绘制最优先的信息丰富的生物样本地图。

Project Summary: NHGRI’s ENCODE Project aims to develop a comprehensive catalog of functional sequence elements in the human genome. The goal of ENCODE4 is to continue to catalyze genome research by capturing new elements and precisely defining the cell & tissue type(s) in which each element acts. To this end, the mapping centers will have amassed approximately 1000 diverse BioSamples during the main phase of ENCODE4. The prioritization of these samples for the different assays to maximize the coverage and utility of ENCODE4 has been an ongoing effort led by the BioSamples working group. By the end of the main phase of the project, our mapping center will have contributed chromatin state data (6 histone marks and CTCF) for 306 of these BioSamples. In year 5, we propose to add chromatin state data for 105 additional BioSamples. This represents an increased throughput from the main phase of the project. In addition, we will profile dorsolateral prefrontal cortex (DLPFC) from 80 brains with varying Alzheimer’s disease pathologies across year 4 and 5 as part of a distinct funding supplement. In year 5, we will continue to map chromatin state using two technologies: ChIP-seq and MINT. BioSamples have been chosen to maximize integration with other mapping centers, genomic coverage, coverage of biological space, and utility of the Encyclopedia. In summary, the consortium and our mapping center continue to work towards a holistic gold-standard dataset of candidate functional elements and their cellular contexts. To this end, the ENCODE project phase 4 has assembled a critical set of BioSamples and data. Given that critical infrastructure has been established, that our mapping center is in a phase of extremely efficient operation, and that key BioSamples are in hand, the impact of the project could be cost-effectively amplified to a great extent by completing chromatin state mapping of the highest priority information-rich BioSamples in Year 5.