Genomics & Data Integration Core

基因组学

• 批准号: 10678899
• 负责人: MARNI J FALK
• 金额: $ 21.12万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-07-15 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10678899
• 关键词: Acceleration; Attention; Attention deficit hyperactivity disorder; Base Sequence; Basic Science; Behavior; Biochemical; Biology; Biomedical Research; Biostatistics Core; Brain; Cells; ClinVar; Clinical Research; Clinical Trials; Collaborations; Complex; Computerized Medical Record; Copy Number Polymorphism; Custom; DNA sequencing; Data; Data Files; Data Set; Data Sources; Databases; Development; Developmental Disabilities; Disease; Doctor of Philosophy; Education; Epilepsy; Experimental Designs; Generations; Genes; Genetic; Genetic Predisposition to Disease; Genome; Genomic DNA; Genomics; Genotype; Glutamates; Goals; Haplogroup; Individual; Informatics; Information Services; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; International; Internet; Knowledge; Maps; Medicine; Metabolic; Mission; Mitochondria; Mitochondrial DNA; Mitochondrial Diseases; Mitochondrial RNA; Modeling; Mutation; Natural History; Neurons; Nuclear; Outcome; Outcome Measure; Output; Participant; Pathogenesis; Pathogenicity; Pathway interactions; Patient Outcomes Assessments; Performance; Peripheral Blood Mononuclear Cell; Phenotype; Population; Positioning Attribute; Pre-Clinical Model; Publications; Quality Control; RNA; Rare Diseases; Research; Research Personnel; Resources; Scientist; Self Direction; Services; Signal Transduction; Source; Subjects Selections; Surveys; Target Populations; Technology; Therapeutic; Translational Research; Variant; Visualization; Work; analytical tool; autism spectrum disorder; biobank; bioinformatics resource; causal variant; clinical translation; clinical trial readiness; clinically relevant; cohort; complex data; cost; data integration; data visualization; design; developmental disease; epigenomics; exome; frontier; genetic analysis; genetic variant; genome wide association study; genome-wide; genomic data; induced pluripotent stem cell; informatics tool; insight; instrument; mitochondrial dysfunction; mitochondrial genome; neurophysiology; next generation sequencing; novel; phenotypic data; programs; research study; single cell sequencing; transcriptome sequencing; translational medicine; virtual

(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.

（核心 D-GDIC：基因组学和数据集成核心） 项目概要 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来源的信息学集成 直接促进最终用户的研究分析和发现。核心由三个组成部分： [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 IPSC 中获取的 DNA 或 RNA。 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。 广泛映射以了解 IDD 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 工具包，由 Drs 开发。道格拉斯·华莱士 (Douglas Wallace) 和玛尼·福尔克 (Marni Falk) 作为重要乐器而受到广泛认可 了解线粒体疾病的遗传学。该服务利用了已使用的 CHOP 资源 支持线粒体医学前沿计划和线粒体和表观基因组中心 药品。 [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促进编译、集成、 可视化以及直接查询复杂的遗传和表型数据，直接从不同的数据中整理和建模 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，为自然历史研究和临床试验开发提供结果测量和受试者选择。 与 IDDRC 使命的相关性：GDIC 的制定认真关注了我们的总体主题 IDDRC——“基因、大脑和行为”。这包括努力了解发育障碍 三个相互关联的领域： (a) 导致和/或调节基本上所有发育的遗传原基 残疾； (b) 由遗传因素引起的生物化学和神经生理学改变； (c) 我们认识到与这些遗传和神经生理学变化相关的异常行为 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 了解智力和线粒体核基因组和线粒体基因组的遗传病因学 发育障碍（IDD）。它还将为研究人员提供访问复杂信息学的机会 该平台将使他们能够直接发现基因改变的表型后果并识别 跨目标转化或临床研究队列的治疗机会。总的来说，我们的目标是 所有 IDDRC 用户都可以使用这种世界一流的基因组数据生成和分析专业知识。