Genomic Technology Core

项目概要/摘要-基因组技术核心 最新的，尖端的基因组技术，包括批量和单细胞分析的转录组（例如， RNA-seq）、表观基因组（例如ATAC-seq）和蛋白质组（例如CITE-seq）代表了用于基因组学研究的强大的新工具。 精确医学研究的进步，特别是用于分析来自油井的生物标本时 临床表型个体。这些快速发展的技术，以及它们对专业化的要求， 样品制备和储存、基因组专业知识和信息学技能，对许多临床 和流变学的转化研究人员，这是一个需要更好的分子表征和 对疾病亚型的改进描述也是一个巨大的需求。基因组技术（GT） 核心是为自身免疫性风湿病研究者提供交钥匙解决方案， 测定。为了实现这一目标，我们提出了以下目标：1）开发新的基因组检测方法，并对其进行定制 直接应用于风湿病患者的研究。GT Core将利用创新的 Ye Lab的专业知识，开发多模式，单细胞测序测定，高通量单细胞 蛋白质组学测定和空间单细胞转录组学方法。2)提供基因组咨询服务 以及批量和单细胞测序分析的大规模服务。GT Core将利用 基因组资源实验室，基因组学CoLab（由联合主任Eckalbar博士领导），以开发工作流程和分析 风湿性疾病研究者可以使用的针对自身免疫性疾病研究的途径 在就基因组检测选择和研究设计进行咨询后， 基因组技术来进行研究。3)整合和监督集中的生物标本采集、储存 和项目跟踪系统，以确保患者样本的最佳使用和整合， 项目之间的数据共享。GT核心将继续监测复杂的严谨性和可重复性 实验路径，以确保实验数据的质量。GT Core将密切合作 与临床数据信息学（CDI）核心一起，开发项目特定样本跟踪和元数据存储 通过研究电子数据采集（REDCap）系统，确保临床数据与 生物样本结果。GT Core将与IB Core密切合作，以确保基因组数据流能够 轻松集成到分析工作流程中。GT Core为以下应用程序提供了一个强大的框架： 新的，尖端的基因组技术，并将使风湿病学研究人员最大限度地利用所有的 可用于推进风湿病学精确医学研究的工具。

PROJECT SUMMARY/ABSTRACT – Genomic Technology Core The latest, cutting-edge genomic technologies including bulk and single-cell profiling of the transcriptome (e.g. RNA-seq), epigenome (e.g. ATAC-seq) and proteome (e.g. CITE-seq), represent powerful new tools for the advancement of precision medicine research, particularly when used to analyze biospecimens from well clinically-phenotyped individuals. These rapidly evolving technologies, with their requirements for specialized sample preparation and storage, genomic expertise and informatics skills, present a challenge for many clinical and translational researchers in rheumatology, a field where the need for better molecular characterization and improved delineation of disease subtypes is also a tremendous need. The goal of the Genomic Technology (GT) Core is to provide autoimmune rheumatic disease investigators turn-key solutions to cutting-edge genomic assays. To achieve this goal, we propose the following Aims: 1) Develop novel genomic assays and tailor them for direct application to the investigation of rheumatic disease patients. The GT Core will leverage the innovative expertise of the Ye Lab to develop multimodal, single-cell sequencing assays, high-throughput single cell proteomic assays, and spatial single-cell transcriptomic approaches. 2) Provide genomic consultation services and at-scale services for bulk and single-cell sequencing assays. The GT Core will draw on the collaborative genomic resource lab, the Genomics CoLab (Led by co-director Dr. Eckalbar), to develop workflows and analytic pathways geared toward the study of autoimmune disease that can be used by rheumatic disease investigators following consultation on genomic assay choice and study design, enabling them to implement cutting-edge genomic technologies for their projects. 3) Integrate and oversee the centralized biospecimen collection, storage and project tracking systems that are available, to ensure optimal use of patient samples and the integration and sharing of data between projects. The GT Core will continue to monitor the rigor and reproducibility of complex experimental pathways to also ensure the quality of the experimental data. The GT Core will closely collaborate with the Clinical Data Informatics (CDI) cores, to develop project specific sample tracking and metdata storage systems through Research Electronic Data Capture (REDCap) to ensure appropriate linkage of clinical data with biospecimen results. The GT Core will work closely with the IB Core to ensure that genomic data streams can be easily integrated into analysis workflows. The GT Core provides a robust framework for the application of novel, cutting-edge genomic technologies and will enable rheumatology investigators to maximally utilize all the tools available for the advancement of precision medicine research in rheumatology.