Genomics & Data Integration Core

(核心D-GDIC：基因组学和数据集成核心) 项目总结 描述：基因组学和数据集成核心(GDIC)提供全面和专业的分析 为需要基因组计划支持的IDDRC用户提供指导、测序和信息学工具， 通过复杂的数据类型和来源进行数据生成、分析、解释和信息学集成 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 测序服务支持核苷酸序列的生成和基于专家信息学家的分析 从核或线粒体DNA或RNA中获得，包括从单细胞和IPSCs中获得的DNA或RNA。 这项服务由Hakon Hakonarson博士领导，他是国际公认的基因组使用的先驱- 广泛绘制地图以了解缺碘的原因。[2]基因组数据生物信息学资源及其变体 分析教育服务为用户提供对MITOMAP/MITOMASTER和MSeqDR、Web的访问 工具包，以便能够对核基因组和线粒体基因组中的遗传变异进行自我分析。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被广泛认为是必不可少的工具 以了解线粒体疾病的遗传学。此服务利用已使用的拆分资源 支持线粒体医学前沿计划和线粒体和表观基因组学中心 医学。[3]复杂数据集成和可视化服务提供对定制的IDDRC的访问- Tableau的数据集成平台，通过促进汇编、集成、 可视化，并直接查询复杂的遗传和表型数据，直接从不同的 来源，包括电子病历。这项服务对于队列级别的审查特别有用 数据，使自然历史研究和临床试验开发的结果衡量和主题选择成为可能。 与国际发展研究中心使命的相关性：GDIC是在认真关注我们的 IDDRC-“基因、大脑和行为”。这包括努力了解儿童的发育障碍 三个相互关联的领域：(A)导致和/或基本上调节所有发育的遗传原基 残疾；(B)遗传因素引起的生化和神经生理改变；及(C) 我们与这些遗传和神经生理变化相关的异常行为，我们认识到 作为发育性残疾的表型。GDIC为以下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 对智力障碍患者核基因组和线粒体基因组遗传病因的理解 发育障碍(IDD)。它还将为研究人员提供访问复杂信息学的途径 这一平台将允许他们直接发现基因改变的表型后果并确定 有针对性的转化或临床研究队列中的治疗机会。总的来说，我们的目标是使 这一世界级的基因组数据生成和分析专业知识可供所有IDDRC用户使用。

(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.