Genomics & Data Integration Core

(CORE D-GDIC：基因组学和数据集成核心） 项目摘要 描述：基因组学和数据集成核心（GDIC）提供全面的专家分析 为需要基因组项目规划支持的IDDRC用户提供指导、测序和信息学工具， 数据生成、分析、解释以及与复杂数据类型和数据源的信息集成， 直接促进最终用户的研究分析和发现。核心有三个组成部分：[1]基因组 测序服务支持生成和基于专家信息学家的核苷酸序列分析 从细胞核或线粒体DNA或RNA获得，包括从单细胞和IPSC获得的那些。 这项服务由Hakon Hakonarson博士指导，他是国际公认的基因组使用先驱， 广泛的地图，以了解缺碘症的原因。[2]基因组数据生物信息学资源和变体 分析教育服务为用户提供访问MITOMAP/MITOMASTER和MSeqDR、Web 工具包，以便能够自我分析核和线粒体基因组中的遗传变异。这些 由道格拉斯华莱士博士和马尼福尔克博士开发的工具包作为基本工具得到广泛认可 了解线粒体疾病的遗传学。此服务利用了已使用的CHOP资源 支持线粒体医学前沿项目和线粒体和表观基因组中心 药[3]复杂数据集成和可视化服务提供对自定义“IDDRC- Tableau的数据集成平台，通过简化编译、集成 可视化和直接查询复杂的遗传和表型数据， 来源，包括电子病历。此服务对于队列级别的审查特别有用 数据，使结果的测量和自然史研究和临床试验开发的受试者选择。 与IDDRC使命的相关性：GDIC是在认真关注我们的 IDDRC -基因，大脑和行为。这包括努力了解发展障碍， 三个相互关联的领域：（a）遗传原基，它导致和/或调节基本上所有发育 残疾;（B）遗传因素引起的生物化学和神经生理学改变;以及（c） 这些异常行为与遗传和神经生理变化有关， 作为发育障碍的表型。GDIC为多个领域提供分析支持， 生物医学研究，从基础科学到临床转化医学。GDIC将促进详细的 了解智力和智力障碍的核和线粒体基因组的遗传病因学， 发展性残疾（IDD）。它还将为研究人员提供一个复杂的信息学 该平台将使他们能够直接发现遗传改变的表型后果， 跨靶向转化或临床研究队列的治疗机会。总的来说，我们的目标是使 这一世界一流的基因组数据生成和分析专业知识提供给所有IDDRC用户。

(CORE D- GDIC: GENOMICS AND DATA INTEGRATION CORE) PROJECT SUMMARY Description: The Genomics and Data Integration Core (GDIC) provides comprehensive and expert analytic guidance, sequencing, and informatics tools for IDDRC users who require support in genomic project planning, data generation, analyses, interpretation, and informatics integration with complex data types and sources to directly facilitate end-user research analyses and discovery. The core has three components: [1] The Genomic Sequencing Service supports generation and expert informatician-based analysis of nucleotide sequences obtained from either nuclear or mitochondrial DNA or RNA, including those taken from single cells and IPSCs. This service is directed by Dr. Hakon Hakonarson, an internationally recognized pioneer in the use of genome- wide mapping to understand the causes of IDD. [2] The Genomic Data Bioinformatics Resources & Variant Analysis Education Service provides users with access to MITOMAP/MITOMASTER and MSeqDR, Web toolkits in order to enable self-analysis of genetic variants in both nuclear and mitochondrial genomes. These toolkits, developed by Drs. Douglas Wallace and Marni Falk, enjoy broad recognition as essential instruments for understanding the genetics of mitochondrial disease. This service leverages CHOP resources that were used to support the Mitochondrial Medicine Frontier Program and the Center for Mitochondrial and Epigenomic Medicine. [3] The Complex Data Integration and Visualization Service provides access to a custom ‘IDDRC- Tableau’ data integration platform that accelerates research discovery by facilitating compilation, integration, visualization, and direct query of complex genetic and phenotypic data directly collated and modeled from diverse sources, including the electronic medical record. This service is particularly useful for review of cohort-level data, enabling outcome measure and subject selection for natural history studies and clinical trial development. Relevance to IDDRC Mission: The GDIC has been developed with careful attention to the overall theme of our IDDRC – “Genes, Brain and Behavior”. This encompasses efforts to understand developmental disabilities in three inter-related domains: (a) The genetic anlage which causes and/or modulates essentially all developmental disabilities; (b) The biochemical and neurophysiologic alterations which arise from genetic factors; and (c) The aberrant behaviors that we associate with these genetic and neurophysiologic changes, and which we recognize as the phenotypes of developmental disabilities. The GDIC provides analytical support for multiple domains of biomedical research, from basic science to clinical translational medicine. The GDIC will facilitate detailed understanding of the genetic etiology across both nuclear and mitochondrial genomes of intellectual and developmental disabilities (IDD). It will also provide researchers with access to a sophisticated informatics platform that will allow them to directly discover the phenotypic consequences of genetic alterations and identify therapeutic opportunities across targeted translational or clinical research cohorts. Overall, our goal is to make this world-class genomic data generation and analytics expertise available to all IDDRC users.