NEUROGENOMICS CORE

项目总结/摘要-神经基因组学核心 神经基因组学研究，包括DNA、RNA和表观基因组的分析，包括 染色质和甲基化在智力和发育障碍的研究中越来越重要 （缺碘症）。例如，神经基因组学分析可以识别人类IDDs的原因以及确定 在动物或细胞模型中基因调控的机制。神经基因组学（NGEN）核心 提供标准和创新的基因组分析，从人类DNA变异的基因分型， 通过单细胞RNA测序或评估神经祖细胞中可接近的染色质来研究受试者。 具有NGEN核心的NCEI将建立空间转录组学技术，使研究 组织结构中的基因表达。此外，NGEN核心提供计算和 对下一代测序（NGS）实验中出现的大型数据集进行生物信息学分析， 将培养学生和博士后研究员。NGEN的核心是灵活的放弃旧的服务， 长期使用或具有成本效益，以实施创新的服务，将加强缺碘症的研究和发现。 该小组由一名主任和一名副主任组成，他们在人类遗传学方面具有互补的专门知识， 功能基因组学和表观基因组学。业务主任在执行和 建立由高级技术人员执行的新技术或生物信息服务。的 NGEN核心有一个咨询委员会，需要确保最佳的服务，并帮助决定哪些服务， 核心中的报价。NGEN核心组件是爱因斯坦建立的共享设施的一部分， 从癌症中心和学院过来的进行基因组学研究的挑战之一是 如何在众多可用的不同检测方法中进行选择。NGEN核心为IDDRC提供指导 从研究设计到实验优化再到生物信息学分析， 为此，董事与个别研究者会面，提供指导，帮助选择 最适合他们特定的研究问题。IDDRC的成员将优先获得 NGEN核心服务和个性化咨询。IDDRC试点奖和奖励计划也是 在竞争的基础上，通过ADM核心提供，使研究人员能够启动 神经基因组学项目，即使目前的赠款资金有限。通过这一便利， NGEN提供一系列涉及基因组分析关键方面的服务和创新技术，其核心是 IDDRC的重要组成部分。

PROJECT SUMMARY/ABSTRACT – NEUROGENOMICS CORE Neurogenomics research, including analysis of DNA, RNA and the epigenome, consisting of investigation of chromatin and methylation, is increasingly important in studies of intellectual and developmental disabilities (IDDs). For example, neurogenomics analysis can identify the cause of human IDDs as well as determine the mechanism by which genes are regulated in animal or cell-based models. The Neurogenomics (NGEN) Core provides standard and innovative genomic assays that range from genotyping of DNA variants in human subjects through single cell RNA-sequencing or evaluation of accessible chromatin in neural progenitor cells. The NCEI with the NGEN Core will establish spatial transcriptomic technology, making it possible to investigate gene expression in the context of tissue architecture. Further, the NGEN Core provides computational and bioinformatic analysis of large datasets that emerge from next-generation sequencing (NGS) experiments and will train students and postdoctoral fellows. The NGEN core is flexible to relinquish old services that are no longer utilized or cost effective, to implement innovative services that will enhance IDD research and discovery. The team consists of a Director and Associate Director with complementary expertise in human genetics, functional genomics and epigenomics. The Operations Directors have hands-on roles in implementing and establishing new technologies or bioinformatic services that are performed by senior technical staff. The NGEN Core has an advisory committee needed to ensure optimal service and to help decide which services to offer in the Core. The NGEN Core Components are part of established shared facilities at Einstein that also has oversite from the Cancer Center and College. One of the challenges in performing genomics research is how to choose among many different assays that are available. The NGEN Core provides guidance to IDDRC investigators in a prioritized manner, from study design, to experimental optimization to bioinformatic analysis. For this, the Directors meet with individual investigators to provide guidance in helping to choose assays that are best suited for their particular research question. Members of the IDDRC will receive prioritized access to NGEN Core services and personalized consultation. The IDDRC Pilot Award and Voucher program is also available through the ADM Core on a competitive basis, making it possible for investigators to initiate neurogenomics projects even if current grant funding is limited. Through this facilitated availability of a wide range of services and innovative technologies involving critical aspects of genomic analysis, the NGEN core is an essential component of the IDDRC.