综合基因组核心-猫眼课题宝

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

项目类别：

财政年份：

2017

资助国家：

美国

项目状态：

未结题

起止时间：

2017-08-15 至 2027-05-31

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

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中文摘要

翻译

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

英文摘要

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.

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