Genomics & Data Integration Core
基因组学
基本信息
- 批准号:10450696
- 负责人:
- 金额:$ 21.12万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 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:
- 关键词:AttentionAttention deficit hyperactivity disorderBase SequenceBasic ScienceBehaviorBiochemicalBiologyBiomedical ResearchBiostatistics CoreCellsClinVarClinicalClinical ResearchClinical TrialsCollaborationsComplexComputerized Medical RecordConsultCopy Number PolymorphismCustomDNA sequencingDataData FilesData SetData SourcesDatabasesDevelopmentDevelopmental DisabilitiesDiseaseDoctor of PhilosophyEducationEpilepsyExperimental DesignsGenerationsGenesGeneticGenetic Predisposition to DiseaseGenomeGenomic DNAGenomicsGenotypeGlutamatesGoalsHaplogroupIndividualInformaticsInformation ServicesIntellectual and Developmental Disabilities Research CentersIntellectual functioning disabilityInternationalInternetKnowledgeMedicineMetabolicMissionMitochondriaMitochondrial DNAMitochondrial DiseasesMitochondrial RNAModelingMutationNatural HistoryNeuronsNuclearOutcomeOutcome MeasureOutputParticipantPathogenesisPathogenicityPathway interactionsPatient Outcomes AssessmentsPerformancePeripheral Blood Mononuclear CellPhenotypePopulationPositioning AttributePre-Clinical ModelPublicationsQuality ControlRNARare DiseasesResearchResearch PersonnelResourcesScientistSelf-DirectionServicesSignal TransductionSourceSubjects SelectionsSurveysTarget PopulationsTechnologyTherapeuticTranslational ResearchVariantVisualizationWorkanalytical toolautism spectrum disorderbasebiobankbioinformatics resourcebrain behaviorcausal variantclinical trial readinessclinically relevantcohortcomplex datacostdata integrationdata visualizationdesigndevelopmental diseaseepigenomicsexomefrontiergenetic analysisgenetic variantgenome wide association studygenome-widegenomic datainduced pluripotent stem cellinformatics toolinsightinstrumentmitochondrial dysfunctionmitochondrial genomeneurophysiologynext generation sequencingnovelphenotypic dataprogramsresearch studysingle cell sequencingtranscriptome sequencingtranslational medicinevirtual
项目摘要
(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。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
MARNI J FALK其他文献
MARNI J FALK的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ truncateString('MARNI J FALK', 18)}}的其他基金
Administrative Supplement for Leigh Syndrome Spectrum Expert Panel Curation
利氏综合征谱专家小组管理的行政补充
- 批准号:
10225911 - 财政年份:2020
- 资助金额:
$ 21.12万 - 项目类别:
Administrative Supplement - Mitochondrial respiratory chain disease mechanistic and therapeutic modeling
行政补充-线粒体呼吸链疾病机制和治疗模型
- 批准号:
10798475 - 财政年份:2020
- 资助金额:
$ 21.12万 - 项目类别:
Mitochondrial respiratory chain disease mechanistic and therapeutic modeling
线粒体呼吸链疾病机制和治疗模型
- 批准号:
10569023 - 财政年份:2020
- 资助金额:
$ 21.12万 - 项目类别:
Mitochondrial respiratory chain disease mechanistic and therapeutic modeling
线粒体呼吸链疾病机制和治疗模型
- 批准号:
10343742 - 财政年份:2020
- 资助金额:
$ 21.12万 - 项目类别:
Administrative Supplement (Undergraduate Summer Research Experiences) - Mitochondrial respiratory chain disease mechanistic and therapeutic modeling
行政补充(本科生暑期研究经历)-线粒体呼吸链疾病机制和治疗模型
- 批准号:
10809930 - 财政年份:2020
- 资助金额:
$ 21.12万 - 项目类别:
Primary Mitochondrial Disease Expert Curation Panel
原发性线粒体疾病专家小组
- 批准号:
10696934 - 财政年份:2017
- 资助金额:
$ 21.12万 - 项目类别:
Primary Mitochondrial Disease Expert Curation Panel
原发性线粒体疾病专家小组
- 批准号:
10173437 - 财政年份:2017
- 资助金额:
$ 21.12万 - 项目类别:
Primary Mitochondrial Disease Expert Curation Panel
原发性线粒体疾病专家小组
- 批准号:
10480773 - 财政年份:2017
- 资助金额:
$ 21.12万 - 项目类别:
相似海外基金
Understanding the relationship between cannabis use and attention-deficit/hyperactivity disorder
了解大麻使用与注意力缺陷/多动症之间的关系
- 批准号:
2874883 - 财政年份:2023
- 资助金额:
$ 21.12万 - 项目类别:
Studentship
RestEaze: A Novel Wearable Device and Mobile Application to Improve the Diagnosis and Management of Restless Legs Syndrome in Pediatric Patients with Attention Deficit/Hyperactivity Disorder
RestEaze:一种新型可穿戴设备和移动应用程序,可改善注意力缺陷/多动症儿科患者不宁腿综合症的诊断和管理
- 批准号:
10760442 - 财政年份:2023
- 资助金额:
$ 21.12万 - 项目类别:
Diagnosis and Treatment of Adult Attention-Deficit/Hyperactivity Disorder: A Workshop
成人注意力缺陷/多动症的诊断和治疗:研讨会
- 批准号:
10825708 - 财政年份:2023
- 资助金额:
$ 21.12万 - 项目类别:
Maternal Attention Deficit Hyperactivity Disorder (m-ADHD): Mental Health, Pregnancy and Infant Outcomes
母亲注意力缺陷多动障碍 (m-ADHD):心理健康、妊娠和婴儿结局
- 批准号:
488888 - 财政年份:2023
- 资助金额:
$ 21.12万 - 项目类别:
Operating Grants
SBIR Phase I: A novel caregiver-centered mobile app and artificial intelligence (AI) coaching intervention for pediatric Attention Deficit Hyperactivity Disorder (ADHD)
SBIR 第一阶段:一款新颖的以护理人员为中心的移动应用程序和人工智能 (AI) 辅导干预儿童注意力缺陷多动障碍 (ADHD)
- 批准号:
2335539 - 财政年份:2023
- 资助金额:
$ 21.12万 - 项目类别:
Standard Grant
Machine Learning Methods to Develop and Deploy Real-Time Risk Surveillance for Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder from the Electronic Health Record
用于开发和部署电子健康记录中自闭症谱系障碍和注意力缺陷多动障碍实时风险监测的机器学习方法
- 批准号:
10449468 - 财政年份:2022
- 资助金额:
$ 21.12万 - 项目类别:
Do Cerebrovascular Factors mediate the possible link between later-life Attention-Deficit/Hyperactivity Disorder and the development of Lewy Body Diseases?
脑血管因素是否介导晚年注意力缺陷/多动障碍与路易体疾病发展之间的可能联系?
- 批准号:
460431 - 财政年份:2022
- 资助金额:
$ 21.12万 - 项目类别:
Defining Embodied Characteristics of Decision Making in Attention Deficit Hyperactivity Disorder
定义注意力缺陷多动障碍决策的具体特征
- 批准号:
10316100 - 财政年份:2022
- 资助金额:
$ 21.12万 - 项目类别:
The biological connection between educational attainment and attention-deficit/hyperactivity disorder in contrasting environments
对比环境中教育程度与注意力缺陷/多动症之间的生物学联系
- 批准号:
10677008 - 财政年份:2022
- 资助金额:
$ 21.12万 - 项目类别:
Conceptualising and Measuring Attention-Deficit Hyperactivity Disorder (ADHD) Across the Lifespan
在整个生命周期中概念化和测量注意力缺陷多动障碍 (ADHD)
- 批准号:
2689864 - 财政年份:2022
- 资助金额:
$ 21.12万 - 项目类别:
Studentship