GENOMICS CORE

项目概要/摘要-基因组学核心 基因组学核心的目标是为IDDRC支持的项目提供最先进的 技术和专门知识，以了解与智力和 发展性残疾（IDD）。基因组学核心通过四个具体目标完成其使命。在 目标1：为基因组学研究提供咨询服务。这些服务包括： 为IRB批准的人类受试者研究制定方案，为研究人员提供指导， 临床医生关于研究设计和下一代测序技术的适当利用， 专门的基因组学应用，并在涉及基因组学项目的赠款申请中提供援助。 第二个目标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。这包括专门的基因组服务 范围从全外显子组和全基因组测序、RNA-seq和ChIP-seq到单分子 测序核心提供全方位服务的CAP认证的生物储存库。对于目标3，基因组学核心协助 与数据分析，提供有关使用计算资源来存储和分析数据的指导，包括 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。这些具体目标相互结合， IDDRC的其他核心。基因组学核心非常强调病因学，自然史和 与发育迟缓相关的各种疾病的预后以及 发育障碍这种强调有助于IDDRC研究人员阐明表型变异 其与基因突变相关（例如，染色体异常、基因组拷贝数变化， 单核苷酸变异和短插入和缺失[插入缺失]）。

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]).