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.

综合基因组学核心|项目总结 Clear联盟的集成基因组核心的目的是促进协同 通过在不同的项目之间提供全面的、成本 这三个项目都使用了一套高效且高度集成的基因组服务。项目1 对患者-父母三人组进行基因组/eXom测序，以确定可能导致TED的原因 并建立了一个明确的登记数据库，该数据库整合了基因组和 临床数据。项目2和3将用单细胞rna-seq和Chip-seq进行实验。 确定动物模型中正常和异常TE发育的基因组基础的分析 和人类IPSC衍生的有机化合物。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。这个 CORE提供严谨的统计，支持湿板凳球队的生物信息学素养，提供 数据管理，并促进项目之间的数据共享和更广泛的科学 社区。