NEUROGENOMICS CORE

神经基因组学核心

• 批准号: 10239750
• 负责人: BERNICE E MORROW
• 金额: $ 16.67万
• 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/10239750
• 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，包括对DNA，RNA和表观基因组的分析，包括研究 染色质和甲基化在智力和发育障碍的研究中越来越重要 （IDD）。例如，神经基因组学分析可以识别人类IDD的原因，并确定 在动物或基于细胞的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测定，范围从人类DNA变异的基因分型范围 通过单细胞RNA的受试者对神经祖细胞中可访问的染色质的评估或评估。 具有NGEN核心的NCEI将建立空间转录组技术，从而可以调查 基因表达在组织结构的背景下。此外，NGEN核心提供了计算和 从下一代测序（NGS）实验中出现的大型数据集的生物信息学分析和 将培训学生和博士后研究员。 NGEN核心可以放弃没有的旧服务灵活 更长的使用或具有成本效益，以实施将增强IDD研究和发现的创新服务。 该团队由董事兼副主任，具有人类遗传学专业知识， 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提供的新技术或生物信息学服务。这 Ngen Core有一个咨询委员会，以确保最佳服务并帮助决定哪些服务 提供核心。 NGEN核心组件是爱因斯坦已建立的共享设施的一部分 有癌症中心和大学的过度现场。进行基因组学研究的挑战之一是 如何在可用的许多不同测定中进行选择。 NGEN核心为IDDRC提供了指导 从研究设计到实验优化到生物信息学分析的优先级研究者。 为此，董事与个别调查人员会面，以提供指导，以帮助选择测定法 最适合他们的特定研究问题。 IDDRC的成员将获得优先访问权限 NGEN核心服务和个性化咨询。 IDDRC飞行员奖和代金券计划也是 通过竞争性通过ADM核心获得，使调查人员有可能发起 神经基因组学项目即使目前的赠款资金有限。通过这种准备的宽阔可用性 涉及基因组分析关键方面的服务范围和创新技术，NGEN核心是 IDDRC的重要组成部分。