Genomics & Data Integration Core

基因组学

• 批准号: 10240002
• 负责人: MARNI J FALK
• 金额: $ 18.91万
• 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/10240002
• 关键词: Attention; Attention deficit hyperactivity disorder; Base Sequence; Basic Science; Behavior; Biochemical; Biology; Biomedical Research; Biostatistics Core; Cells; ClinVar; Clinical; Clinical Research; Clinical Trials; Collaborations; Complex; Computerized Medical Record; Consult; 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; Frontier Medicine; 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; 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; base; biobank; bioinformatics resource; brain behavior; causal variant; clinical trial readiness; clinically relevant; cohort; complex data; cost; data integration; data visualization; design; developmental disease; epigenomics; exome; 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） 项目摘要 描述：基因组学和数据集成核心（GDIC）提供了全面的专家分析 为需要基因组项目计划支持的IDDRC用户的指导，测序和信息工具， 与复杂的数据类型和来源的数据生成，分析，解释和信息集成 直接促进最终用户研究分析和发现。核心具有三个组成部分：[1]基因组 测序服务支持基于核苷酸序列的生成和专家信息学分析 从核或线粒体DNA或RNA中获得，包括从单个细胞和IPSC中获得的。 这项服务由国际公认的基因组的先驱Hakon Hakonarson博士指导。 广泛的映射以了解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了访问Mitomap/Mitomaster和MSEQDR的访问权限 工具包为核和线粒体基因组中的遗传变异自我分析。这些 工具包，由Drs开发。道格拉斯·华莱士（Douglas Wallace）和玛妮·福克（Marni Falk），作为基本乐器享受广泛的认可 了解线粒体疾病的遗传学。该服务利用使用的章资源 支持线粒体医学边界计划和线粒体和表观基因组中心 药品。 [3]复杂的数据集成和可视化服务提供了对自定义‘iddrc-的访问权限 Tableau的数据集成平台，该平台通过支持编译，集成，加速研究发现 可视化，直接查询复杂的遗传和表型数据，直接整理和建模。 来源，包括电子病历。该服务对于审查队列级别特别有用 数据，实现自然史研究和临床试验开发的结果测量和主题选择。 与IDDRC任务的相关性：GDIC已被仔细关注我们的整体主题 IDDRC - “基因，大脑和行为”。这涵盖了了解发展障碍的努力 三个相互关联的域：（a）引起和/或调节所有发育的遗传性 残疾； （b）由遗传因素引起的生化和神经生理学改变； （c） 我们与这些遗传和神经生理学变化相关的异常行为，我们认识到这些行为 作为发育障碍的表型。 GDIC为多个领域提供了分析支持 生物医学研究，从基础科学到临床转化医学。 GDIC将有助于详细 了解智力和线粒体基因组的遗传病因学和 发展障碍（IDD）。它还将为研究人员提供获得复杂信息的访问 可以使他们直接发现遗传改变的表型后果的平台并确定 跨针对性翻译或临床研究队列的治疗机会。总体而言，我们的目标是 所有IDDRC用户都可以使用这个世界一流的基因组数据生成和分析专业知识。