NEUROGENOMICS CORE

项目摘要/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，包括对 染色质和甲基化在智力和发育障碍的研究中越来越重要 (IDDS)。例如，神经基因组分析可以确定人类IDDS的原因，并确定 在动物或基于细胞的模型中，基因被调控的机制。神经基因组学(NGEN)核心 提供标准和创新的基因组分析，范围从人类DNA变异的基因分型 受试者通过单细胞RNA测序或评估神经前体细胞中可获得的染色质。 拥有Ngen Core的NCEI将建立空间转录技术，使研究成为可能 组织架构背景下的基因表达。此外，下一代核心提供了计算和 对来自下一代测序(NGS)实验和 将培养学生和博士后研究员。下一代核心是灵活的，可以放弃不是 更长时间使用或更具成本效益，以实施创新服务，以加强IDD研究和发现。 该团队由一名主任和副主任组成，他们在人类遗传学方面具有互补的专业知识， 功能基因组学和表观基因组学。运营总监在实施和 建立由高级技术人员执行的新技术或生物信息服务。这个 Ngen Core有一个咨询委员会，以确保最佳服务并帮助决定将哪些服务 核心要约。Ngen Core组件是爱因斯坦已建立的共享设施的一部分，该设施还 有来自癌症中心和学院的网站。进行基因组学研究的挑战之一是 如何在许多不同的可用化验方法中进行选择。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，研究人员以优先顺序进行研究。 为此，董事与个别调查人员会面，以提供指导，帮助选择 最适合他们特定的研究问题。IDDRC的成员将获得优先访问 NGEN核心服务和个性化咨询。IDDRC飞行员奖和代金券计划也是 在竞争的基础上通过ADM核心提供，使调查人员能够启动 神经基因组学项目，即使目前的赠款资金有限。通过这一便利的广泛的可用 涉及基因组分析关键方面的一系列服务和创新技术，ngen的核心是 国际发展与发展中心的一个重要组成部分。

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.