Core 1: Genomics and Data Management Core

项目摘要 单细胞RNA-seq和其他变革性的基因组技术提供了将人类 免疫学的细胞细节的下一个层次，定义单个细胞在更大的数量级比 以前可能的。作为一种细胞异质性很大的疾病，系统性红斑狼疮是成熟的， 受到单细胞技术的影响。基因组学和数据管理核心（GDMC）将提供国家- 最先进的基因组学技术和所有数据管理能力的建议中心狼疮 Research. GDMC的一个主要贡献是提供和开发分析SLE的技术 单细胞分辨率的患者样本。应用单细胞技术将有助于确定细胞类型 这些患者群体的特征允许患者与正常细胞之间的特定比较， 类型，并可能定义与SLE和/或疾病的分子亚型相关的新细胞类型。 单细胞RNA-seq将被用作一种发现工具，用于定义细胞群并识别细胞类型特异性的细胞。 标记。流式细胞术和质谱细胞术应用将利用这些信息来开发新的流式细胞仪组。 可以以比单细胞转录组学更大的通量（即，在更多患者上）应用的抗体 并且每个样品具有更大数量的细胞）。最终，这种细胞表型的发展 这种方法将能够改善SLE患者的分层。此外，GDMC旨在提供单曲 细胞工具，以功能性地询问新的细胞群体和途径， 单细胞转录组学，从而潜在地揭示SLE治疗的新策略。数据 GDMC的管理活动将确保统一和稳健的实验设计方法， 对中心的两个研究项目进行了分析。GDMC将负责数据和信息的流动 并将负责提交完成的数据集/项目 相关的公共档案馆GDMC的具体目标是：1）提供最先进的单一 细胞转录组学技术; 2）提供最先进的细胞表型分析; 3）提供中央 狼疮研究中心生成的数据的存储、管理和信息安全。核心 因此，将通过应用强大的 基因组技术结合专家数据分析和管理支持。

PROJECT SUMMARY Single cell RNA-seq and other transformative genomic technologies provide the opportunity to take human immunology to the next level of cellular detail, defining individual cells in greater orders of magnitude than previously possible. As a disease of great cellular heterogeneity, Systemic Lupus Erythematosus is ripe to be impacted by single cell technologies. The Genomics and Data Management Core (GDMC) will provide state- of-the-art genomics technologies and all data management capabilities for the proposed Center for Lupus Research. A major contribution of the GDMC will be to provide and develop the technology to analyze SLE patient samples with single cell resolution. Applying single cell technologies will help to define cell type characteristics in these patient populations, allow for specific comparisons between patient versus normal cell types and could potentially define new cell types associated with SLE and/or molecular subtypes of disease. Single cell RNA-seq will be used as a discovery tool to define cell populations and identify cell-type-specific markers. The flow and mass cytometry applications will utilize this information to develop new panels of antibodies that can be applied with greater throughput than single cell transcriptomics (i.e. on more patients and with greater numbers of cells per sample). Ultimately, the development of such a cellular phenotyping approach will enable improved stratification of SLE patients. In addition, the GDMC aims to provide the single cell tools to functionally interrogate new cell populations and pathways revealed by the resolving power of single cell transcriptomics, thus potentially uncovering new strategies for SLE therapeutics. The data management activities of the GDMC will ensure a unified and robust approach to experimental design and analysis for both research projects of the Center. GDMC will be responsible for the flow of data and information across all components of the Center and will be responsible for the submission of completed data sets/projects to the appropriate public archives. The Specific Aims for the GDMC are to 1) Provide state-of-the-art single cell transcriptomic technologies; 2) Provide state-of-the-art cellular phenotyping; and 3) Provide central storage, management and information security for data generated by the Center for Lupus Research. The core will thus fulfill essential scientific and translational needs across the Center through the application of powerful genomic technologies combined with expert data analysis and management support.