Integrated Genomics Core

综合基因组核心

• 批准号: 10458159
• 负责人: Yufeng Shen
• 金额: $ 25.63万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-08-15 至 2027-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10458159
• 关键词: Address; Animal Model; Animals; Binding; Bioinformatics; Biological; Candidate Disease Gene; Cardiac; Cells; ChIP-seq; Child; Chromatin; Clinical Data; Communities; Computer Analysis; Computing Methodologies; Congenital Abnormality; Copy Number Polymorphism; Data; Data Discovery; Data Set; Databases; Defect; Deposition; Development; Disease; Endocytosis; Epigenetic Process; Esophagus; Etiology; Funding; Gene Expression Profile; Genes; Genetic; Genetic Transcription; Genitourinary system; Genome; Genomics; Genotype; Goals; Human; Informatics; Infrastructure; Manuscripts; Medical Genetics; Neurologic; Organoids; PF4 Gene; Parents; Pathway interactions; Patients; Pediatric Research; Phenotype; Publications; RNA analysis; Registries; Sample Size; Services; Set protein; Single Nucleotide Polymorphism; Statistical Data Interpretation; Statistical Methods; Syndrome; Testing; Trachea; United States National Institutes of Health; Variant; Xenopus; animal data; base; candidate identification; causal variant; cost effective; data dissemination; data integration; data management; data mining; data sharing; de novo mutation; developmental genetics; disorder risk; exome; exome sequencing; experimental study; functional genomics; gastrointestinal; genetic analysis; genetic testing; genetic variant; genome analysis; genome sequencing; genomic data; human data; in silico; induced pluripotent stem cell; insertion/deletion mutation; literacy; model organisms databases; multiple omics; proband; program dissemination; programs; public repository; rare variant; risk variant; single-cell RNA sequencing; success; synergism; trafficking; transcription factor; transcriptome sequencing; whole genome

INTEGRATED GENOMICS CORE | PROJECT SUMMARY The aim of the CLEAR Consortium’s Integrated Genomics Core is to facilitate synergy between the different projects and accelerate the program by providing a comprehensive, cost effective and highly integrated suite of genomic services used by all three Projects. Project 1 performs genome/exom sequencing of patient-parent trios to identify putative TED-causing variants, and has established the CLEAR registry a database that integrates genomic and clinical data. Projects 2 and 3 will perform experiments with single cells RNA-seq and ChIP-seq analyses to define the genomic basis of normal and disrupted TE development in animal models and human iPSC-derived organoids. The Core will used state-of-the-art bioinformatics, computational and statistical methods to analyze and integrate of all this genomic data. The core provides statistical rigor, supports bioinformatics literacy of the wet bench teams, provides data management, and facilitates data sharing between the projects and broader scientific community.

整合基因组学核心|项目摘要 CLEAR联盟的综合基因组学核心的目的是促进协同作用 在不同的项目之间，并通过提供全面的，成本 所有三个项目都使用的高效和高度集成的基因组服务套件。项目1 对患者-父母三人组进行基因组/外显子组测序，以鉴定推定的TED致病基因 变异，并建立了CLEAR登记数据库，整合了基因组和 临床数据。项目2和3将使用单细胞RNA-seq和ChIP-seq进行实验 分析以确定动物模型中正常和中断TE发育的基因组基础 和人iPSC衍生的类器官。核心将使用最先进的生物信息学 计算和统计方法来分析和整合所有这些基因组数据。的 核心提供了统计的严谨性，支持生物信息学素养的湿板凳队，提供 数据管理，并促进项目和更广泛的科学之间的数据共享 社区