NEUROGENOMICS CORE

神经基因组学核心

• 批准号: 10455677
• 负责人: BERNICE E MORROW
• 金额: $ 8.55万
• 依托单位: ALBERT EINSTEIN COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-07-23 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10455677
• 关键词: Address; Advisory Committees; Animal Model; Animals; Applications Grants; Architecture; Area; Award; Behavior Disorders; Bioinformatics; Biological; Biological Assay; Biomedical Research; Cancer Center; Cell Line; Cells; Chromatin; Complement; Complex; Computer Analysis; Consultations; DNA; DNA Modification Process; DNA Sequence; DNA analysis; Data; Data Analyses; Diagnosis; Disease; Ensure; Evaluation; Familiarity; Feasibility Studies; Foundations; Funding; Future; Gene Expression; Genes; Genetic; Genomics; Genotype; Goals; Grant; High Performance Computing; Human; Human Genetics; Human Resources; Individual; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; Investigation; Measures; Methylation; Modeling; Neurosciences; Nucleic Acid Regulatory Sequences; Patients; Pharmaceutical Preparations; Pilot Projects; Population Genetics; Postdoctoral Fellow; Process; Quality Control; RNA; RNA Sequences; Research; Research Design; Research Personnel; Role; Services; Solid; Structure; TNFRSF5 gene; Technology; Time; Tissues; Training; Variant; XCL1 gene; autism spectrum disorder; base; brain malformation; college; computerized data processing; cost; cost effective; design; epigenome; epigenomics; exome; exome sequencing; experience; experimental study; flexibility; functional genomics; genome sequencing; genome-wide; genomic data; human subject; improved; induced pluripotent stem cell; innovation; innovative technologies; interest; large datasets; member; nerve stem cell; neurogenomics; new technology; next generation sequencing; operation; programs; secondary analysis; single cell technology; single-cell RNA sequencing; skills; student training; transcriptomics; voucher; whole genome

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.

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变得越来越重要 （国际长途电话）。例如，神经基因组学分析可以识别人类 IDD 的原因并确定 在动物或细胞模型中调节基因的机制。神经基因组学 (NGEN) 核心 提供标准和创新的基因组检测，范围包括人类 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。 NCEI 与 NGEN Core 将建立空间转录组技术，使研究成为可能 组织结构背景下的基因表达。此外，NGEN Core 还提供计算和 对下一代测序 (NGS) 实验产生的大型数据集进行生物信息分析 将培训学生和博士后研究员。 NGEN 核心可以灵活地放弃不需要的旧服务 延长使用时间或具有成本效益，以实施创新服务，从而加强 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 NGEN Core 设有一个咨询委员会，以确保提供最佳服务并帮助决定提供哪些服务 核心报价。 NGEN 核心组件是 Einstein 已建立的共享设施的一部分 癌症中心和学院有驻场。进行基因组学研究的挑战之一是 如何在许多可用的不同检测中进行选择。 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分析，研究人员以优先顺序进行。 为此，董事们与个别研究人员会面，提供指导，帮助选择适合的检测方法 最适合他们特定的研究问题。 IDDRC 成员将优先获得 NGEN 核心服务和个性化咨询。 IDDRC 试点奖励和优惠券计划还 通过 ADM Core 在竞争的基础上提供，使研究人员能够启动 即使当前的拨款资金有限，神经基因组学项目也会开展。通过这种方式，可以方便地获得广泛的 NGEN 的核心是涉及基因组分析关键方面的一系列服务和创新技术 IDDRC 的重要组成部分。