Resource Core C - Skin Genomics, Transcriptomics, and Epigenetics Core

摘要-资源核心C 对位于西奈山的SBDRC研究社区的调查结果表明，最高战略 优先事项是获得最先进的和集成的基因组学、转录组学和表观遗传学方法 分析皮肤在正常动态平衡和疾病中的情况。核心C将提供最先进的从开始到结束的过程 这些尖端方法的技术。核心将利用现有的校园资源，如 仪器设备和教职员工和研究人员的广泛专业知识，以提供技术和 对SBDRC研究社区的智力支持。核心人员将嵌入皮肤研究 在实验室中，他们将熟悉作为生物系统的皮肤以及提出的问题；这 将有助于确保他们能够就实验设计和服务向实验室人员提供最有效的建议 解决生物学问题；相反，实验室人员将更加熟悉技术 可供他们使用的方法。具体来说，核心C将为SBDRC调查人员提供咨询和 以NexGen技术为中心的服务。强大的组织中心(SmartSheet仪表板)将 用于内部和外部的标本和项目接收。作为目标1的一部分，核心C将促进 获取基因组学(外显子组测序、全基因组测序和靶向捕获)和转录学 用于健康和患病皮肤的技术(散装RNA-seq、聚(A)RNA-seq、小RNA-seq)。通向Long- READ单分子测序(SMRT/PacBio)将有助于分析DNA和 由于剪接改变而导致的RNA异构体的精确鉴定。AIM 2中的服务将专注于 ART表观基因组学研究，以确定在皮肤中起作用的调节元件(ATAC-SEQ、CHIP-SEQ、CUT&RUN)。 Hi-C将识别跨调控元件(增强子和启动子)的相互作用。与 转录切割的发现将确认靶基因，并确定在皮肤内稳态中工作的改变的网络 和疾病。AIM 3将专注于细胞异质性，为转录提供单细胞技术 (scRNA-seq)和表观遗传学(scATAC-seq)分析。Cite-Seq将同时提供 单细胞表位和转录组的测量。来自Aim 3的服务还将包括空间 转录组学技术允许rna-seq数据的空间分辨率，从而确定所有 单个组织切片中的mRNA。随着新的“组学”技术被开发出来，它将增强皮肤 生物研究，他们将被纳入本核心的活动。数据将分发到核心D，其中 计算生物学家将进行严格的分析、可视化和数据管理。总体而言，核心C是 该中心的基本组成部分，旨在促进皮肤的科学发现 通过为皮肤研究人员提供尖端的多组学研究，我们可以在生物和皮肤病领域开展研究。

Summary – Resource Core C The results of surveying the Research Community of the SBDRC at Mount Sinai indicated that a top strategic priority is access to state-of-the-art and integrated methods for genomics, transcriptomics, and epigenetic analysis of the skin in normal homeostasis and in disease. Core C will provide state-of-the-art start-to-finish technologies for these cutting-edge approaches. The Core will leverage existing campus resources, such as instrumentation and extensive expertise at both faculty and researcher levels, to provide technical and intellectual support to the SBDRC Research Community. Core personnel will be embedded in skin research labs where they will become familiarized with skin as a biological system and the questions being asked; this will help to ensure that they can most effectively advise lab personnel on experimental design and services to address the biological questions; conversely lab personnel will become more familiar with the technological approaches available to them. Specifically, Core C will provide SBDRC investigators with consultation and services centered on NexGen technologies. A robust organizational hub (the Smartsheet dashboard) will be utilized for specimen and project in-take, both internally and externally. As part of Aim 1, Core C will facilitate access to genomics (exome sequencing, whole genome sequencing and targeted capture) and transcriptomic technologies (bulk RNA-seq, poly(A) RNA-seq, small RNA-seq) in healthy and diseased skin. Access to long- read single molecule sequencing (SMRT/PacBio) will facilitate the analysis of structural changes in DNA and the precise identification of RNA isoforms due to altered splicing. Services in Aim 2 will focus on state-of-the art epigenomic studies to identify regulatory elements operating in the skin (ATAC-seq, ChIP-seq, CUT&RUN). Interactions across regulatory elements (enhancers and promoters) will be identified by Hi-C. Integration with transcriptomic findings will confirm target genes and identify altered networks operating in skin homeostasis and disease. Aim 3 will focus on cellular heterogeneity, providing single cell technologies for transcript (scRNA-seq) and epigenetic (scATAC-seq) analyses in single cells. CITE-Seq will provide simultaneous epitope and transcriptome measurements of single cells. Services from Aim 3 will also include spatial transcriptomics technology permitting the spatial resolution of RNA-seq data, and thereby the locations of all mRNAs in individual tissue sections. As novel “omics” technologies are developed that would enhance skin biology research, they will be incorporated into this Core’s activities. Data will be distributed to Core D where computational biologists will perform rigorous analysis, visualization and data management. Overall, Core C is an essential and integral component of the Center with the goal of facilitating scientific discoveries in skin biology and skin disease areas by providing cutting-edge multi-omics studies to skin researchers.