综合基因组核心-猫眼课题宝

综合基因组核心

批准号：

10647825

负责人：

Yufeng Shen

金额：

$24.15万

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/10647825

关键词：

Acceleration Address Animal Model Animals Binding Bioinformatics Biological Candidate Disease Gene Cardiac Cells ChIP-seq Child Chromatin Clinical 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 Multiomic Data Neurologic Organoids Parents Pathway interactions Patients Pediatric Research Phenotype Proteins Publications RNA analysis Registries Sample Size Services Single Nucleotide Polymorphism Statistical Data Interpretation Statistical Methods Testing Trachea United States National Institutes of Health Variant Xenopus animal data 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 genome analysis genome sequencing genomic data human data in silico induced pluripotent stem cell insertion/deletion mutation literacy model organisms databases proband programs public repository rare variant risk variant single-cell RNA sequencing success synergism trafficking transcription factor transcriptome sequencing whole genome

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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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