NEUROGENOMICS CORE

神经基因组学核心

基本信息

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
项目类别：
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

项目摘要

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例如，神经基因组学分析可以识别人类 IDD 的原因并确定其病因。神经基因组学 (NGEN) 核心在动物或细胞模型中调节基因的机制。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，使研究成为可能此外，NGEN Core 提供了计算和组织结构背景下的基因表达。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存在的旧服务。延长使用时间或具有成本效益，以实施创新服务，增强 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，运营总监在实施和表观基因组学方面发挥着实际作用。建立由高级技术人员执行的新技术或生物信息服务。 NGEN Core 拥有一个最佳的咨询委员会来确保服务并帮助决定提供哪些服务 NGEN 核心组件是 Einstein 已建立的共享设施的一部分。进行基因组学研究的挑战之一是来自癌症中心和学院。如何在多种可用的不同检测中进行选择 NGEN Core 为 IDDRC 提供了指导。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其特定研究问题的 IDDRC 成员将优先获得访问权限。 NGEN 核心服务和个性化咨询也是 IDDRC 试点奖励和优惠券计划。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可以通过这种方式促进广泛的可用性。 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。