GENOMICS CORE
基因组核心
基本信息
- 批准号:10085600
- 负责人:
- 金额:$ 18.18万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2020
- 资助国家:美国
- 起止时间:2020-08-01 至 2025-05-31
- 项目状态:未结题
- 来源:
- 关键词:ATAC-seqAccreditationApplications GrantsAreaBioinformaticsBiological AssayCell LineCellsChIP-seqClinicalClinical ServicesCodeComputersConsultationsCytogeneticsDNADNA Sequence AlterationDataData AnalysesDatabasesDetectionDevelopmental Delay DisordersDevelopmental DisabilitiesEducational ActivitiesEducational process of instructingEducational workshopEquipmentEtiologyFacultyFosteringGeneticGenomic LibraryGenomicsGenotypeGoalsGuidelinesHuman GeneticsHuman Subject ResearchIndividualInformed ConsentInstitutional Review BoardsIntellectual and Developmental Disabilities Research CentersIntellectual functioning disabilityInternshipsInvestmentsKnowledgeLaboratoriesLaboratory ResearchLearning ModuleMaster&aposs DegreeMethylationMicroarray AnalysisMissionMolecularMycoplasmaNatural HistoryNucleotidesPhenotypePhylogenyPreparationProductionProtocols documentationRNARNA InterferenceReproducibilityResearchResearch DesignResearch PersonnelResourcesRotationSequence AlignmentServicesSpecimenTechnologyTestingTrainingTraining ProgramsUnited States National Institutes of HealthUniversitiesVariantbiobankcluster computingcomputing resourcesdata sharingdensitydigitaleducation resourcesestablished cell lineexomeexperiencegenome sequencinggenome wide association studygenomic datagraduate medical educationinsertion/deletion mutationinterestnano-stringnanoporenext generation sequence datanext generation sequencingoutcome forecastprotocol developmentpyrosequencingrepositorysingle moleculetissue culturetranscriptome sequencinguser-friendlyvariant of unknown significanceweb serviceswhole genome
项目摘要
PROJECT SUMMARY/ABSTRACT – GENOMICS CORE
The goal of the Genomics Core is to provide IDDRC-supported projects with access to state-of-the-art
technology and expertise relevant to understanding genetic factors associated with intellectual and
developmental disabilities (IDD). The Genomics Core accomplishes its mission through four specific aims. In
Aim 1, the Core provides consultation services for genomics research. These services include facilitating
protocol development for IRB-approved human subject research, offering guidance to researchers and
clinicians about study design and appropriate utilization of next-generation sequencing technologies and
specialized genomics applications, and offering assistance in grant applications that involve genomics projects.
The second Aim is to provide genomics services in the general areas of next-generation sequencing,
genotyping, cytogenetics and chromosomal microarray analysis. This includes specialized genomic services
ranging from whole exome and whole genome sequencing, RNA-seq, and ChIP-seq to single molecule
sequencing. The Core offers a full-service CAP certified biorepository. For Aim 3 the Genomics Core assists
with data analysis, offering guidance on the use of compute resources to store and analyze data including the
interpretation of genomics data. Aim 4 is to provide educational activities and dissemination opportunities,
including a variety of workshops and classes. These Specific Aims are integrated with each other and with
other Cores of the IDDRC. The Genomics Core places a heavy emphasis on the etiology, natural history and
prognosis of a variety of conditions associated with developmental delay and specific features of
developmental disabilities. This emphasis helps IDDRC researchers to elucidate the phenotypic variations
which are associated with genetic mutations (e.g., chromosomal anomalies, genomic copy number changes,
single nucleotide variation and short insertions and deletions [indels]).
项目摘要/摘要-基因组学核心
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)
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JONATHAN PEVSNER其他文献
JONATHAN PEVSNER的其他文献
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{{ truncateString('JONATHAN PEVSNER', 18)}}的其他基金
Role of somatic mosaicism in autism, schizophrenia, and bipolar disorder brain
体细胞镶嵌在自闭症、精神分裂症和双相情感障碍大脑中的作用
- 批准号:
9903893 - 财政年份:2019
- 资助金额:
$ 18.18万 - 项目类别:
Role of somatic mosaicism in autism, schizophrenia, and bipolar disorder brain
体细胞镶嵌在自闭症、精神分裂症和双相情感障碍大脑中的作用
- 批准号:
9308008 - 财政年份:2015
- 资助金额:
$ 18.18万 - 项目类别:
Role of somatic mosaicism in autism, schizophrenia, and bipolar disorder brain
体细胞镶嵌在自闭症、精神分裂症和双相情感障碍大脑中的作用
- 批准号:
9147012 - 财政年份:2015
- 资助金额:
$ 18.18万 - 项目类别:
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