GENOMICS CORE

基因组核心

基本信息

批准号：
10677594
负责人：
JONATHAN PEVSNER
金额：
$ 17.01万
依托单位：
HUGO W. MOSER RES INST KENNEDY KRIEGER
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-08-01 至 2025-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10677594
关键词：
ATAC-seq Accreditation Applications Grants Area Bioinformatics Biological Assay Cell Line Cells Certification ChIP-seq Clinical Clinical Services Code Computers Consultations Cytogenetics DNA DNA Sequence Alteration Data Data Analyses Databases Detection Developmental Delay Disorders Developmental Disabilities E-learning Educational Activities Educational process of instructing Educational workshop Equipment Etiology Faculty Fostering Genetic Genomic Library Genomics Genotype Goals Guidelines Human Genetics Human Subject Research Individual Informed Consent Institutional Review Boards Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Internships Investments Knowledge Laboratories Laboratory Research Learning Module Master of Science Methylation Microarray Analysis Mission Molecular Mycoplasma Natural History Nucleotides Phenotype Phylogeny Preparation Production Prognosis Protocols documentation RNA RNA Interference Reproducibility Research Research Design Research Personnel Resources Rotation Sequence Alignment Services Specimen Technology Testing Training Training Programs United States National Institutes of Health Universities Variant biobank cluster computing computing resources data sharing density digital education resources established cell line exome experience genome sequencing genome wide association study genomic data graduate medical education insertion/deletion mutation interest nano-string nanopore next generation sequence data next generation sequencing protocol development pyrosequencing repository single molecule tissue culture transcriptome sequencing user-friendly variant of unknown significance web services whole genome

项目摘要

PROJECT SUMMARY/ABSTRACT – GENOMICS CORE The goal of the Genomics Core is to provide IDDRC-supported projects with access to state-of-the-art technology and expertise relevant to understanding genetic factors associated with intellectual and developmental disabilities (IDD). The Genomics Core accomplishes its mission through four specific aims. In Aim 1, the Core provides consultation services for genomics research. These services include facilitating protocol development for IRB-approved human subject research, offering guidance to researchers and clinicians about study design and appropriate utilization of next-generation sequencing technologies and specialized genomics applications, and offering assistance in grant applications that involve genomics projects. The second Aim is to provide genomics services in the general areas of next-generation sequencing, genotyping, cytogenetics and chromosomal microarray analysis. This includes specialized genomic services ranging from whole exome and whole genome sequencing, RNA-seq, and ChIP-seq to single molecule sequencing. The Core offers a full-service CAP certified biorepository. For Aim 3 the Genomics Core assists with data analysis, offering guidance on the use of compute resources to store and analyze data including the interpretation of genomics data. Aim 4 is to provide educational activities and dissemination opportunities, including a variety of workshops and classes. These Specific Aims are integrated with each other and with other Cores of the IDDRC. The Genomics Core places a heavy emphasis on the etiology, natural history and prognosis of a variety of conditions associated with developmental delay and specific features of developmental disabilities. This emphasis helps IDDRC researchers to elucidate the phenotypic variations which are associated with genetic mutations (e.g., chromosomal anomalies, genomic copy number changes, single nucleotide variation and short insertions and deletions [indels]).

项目摘要/摘要 - 基因组学核心基因组学核心的目的是提供IDDRC支持的项目以访问最新技术和专业知识与了解与智力和智力相关的遗传因素有关发展障碍（IDD）。基因组学核心通过四个特定目标实现了其使命。 AIM 1，核心为基因组学研究提供咨询服务。这些服务包括促进 IRB批准的人类学科研究的协议开发，向研究人员和关于研究设计和适当利用下一代测序技术和适当利用的临床医生专门的基因组应用，并在涉及基因组项目的赠款应用中提供帮助。第二个目的是在下一代测序的一般领域提供基因组学服务，基因分型，细胞遗传学和染色体微阵列分析。这包括专业基因组服务从整个外显子组和整个基因组测序，RNA-seq和ChIP-Seq到单分子的范围测序。该核心提供了全方位服务的帽子认证的生物库。对于目标3，基因组学核心协助通过数据分析，提供有关使用计算资源来存储和分析数据的指导基因组学数据的解释。目标4是提供教育活动和传播机会，包括各种研讨会和课程。这些具体目标彼此集成 IDDRC的其他内核。基因组学核心非常重视病因，自然史和与发育延迟和特定特征相关的各种条件的预后发育障碍。这种重点有助于IDDRC研究人员阐明表型变化与遗传突变有关（例如，染色体异常，基因组拷贝数变化，单核苷酸变异以及短插入和缺失[Indels]）。