Cardiovascular Development Data Resource Center (CDDRC)

心血管发育数据资源中心 (CDDRC)

• 批准号: 10461828
• 负责人: Gabor T Marth
• 金额: $ 145.48万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-08-20 至 2025-07-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10461828
• 关键词: Address; Affect; Alligators; Animal Model; Basic Science; Bioinformatics; Cardiac development; Cardiovascular system; Chickens; Child; Childhood; Chromatin; Chromatin Remodeling Factor; Client; Clinical; Collaborations; Communities; Complex; Computational Biology; Computational Science; Consultations; Country; DNA; Data; Data Set; Databases; Development; Discipline; Disease; Education and Outreach; Epigenetic Process; Etiology; Future; Genetic; Genetic Diseases; Genome; Genomics; Goals; Heart; Human; Human Genetics; Human Genome; Individual; Institution; Internships; Intuition; Investments; Leadership; Link; Minority Health Research; Molecular; Mosaicism; Mus; National Heart, Lung, and Blood Institute; Native Americans; Organism; Outcome; Outcomes Research; Parents; Patients; Pediatric Cardiac Genomics Consortium; Pilot Projects; Preparation; Rana; Research; Research Personnel; Resources; Science; Science of genetics; Scientist; Sheep; Training; Turtles; Underrepresented Populations; Underrepresented Students; United States; Universities; Utah; Visualization; Visualization software; Zebrafish; analytical tool; cardiogenesis; clinical phenotype; cloud based; congenital heart disorder; data resource; data warehouse; design; epigenome; ethical legal social implication; exome sequencing; experience; experimental study; follow-up; gene discovery; genetic variant; genome sciences; genome sequencing; genomic data; human data; human genomics; innovation; meetings; methylome; multiple datasets; multiple omics; mutant; next generation; next generation sequencing; online tutorial; outreach program; programs; recruit; summer research; tool; tool development; transcription factor; transcriptome; virtual; whole genome

PROJECT SUMMARY Congenital heart disease (CHD) affects approximately 1% of all children born per year in the United States. The NHLBI has made significant investments to discover the causes and outcomes of CHD, including research in the Bench-to-Bassinet (B2B) Consortia that spans fundamental discovery science in the Cardiovascular Development Consortium (CvDC), sequencing the genomes of clinically phenotyped children with CHD and their parents in the Pediatric Cardiac Genomics Consortium (PCGC), and long-term clinical follow-up and outcomes research in the Pediatric Heart Network (PHN). The advent of Next Generation Sequencing (NGS) has rapidly accelerated discoveries in cardiovascular development and the genetics and epigenetics of CHD. Both the CvDC and the PCGC have extensive NGS datasets. The CvDC DataHub at the University of Utah currently serves as the programmatic data warehouse and distribution server that organizes NGS datasets and makes them available online. CvDC datasets are complex, containing NGS experiments from seven ‘model organism’ species (mice, zebrafish, humans, alligator, turtle, chicken, sheep and frogs) and humans. Importantly, the experiments in the CvDC explore the molecular etiology of cardiovascular development through several coordinated -omics approaches, studying changes in the whole-genome transcriptome and in the epigenome (chromatin modifiers, transcription factors, the DNA methylome and higher-order organization of chromatin) during cardiac development and in several mutant genetic backgrounds. The Cardiovascular Development Data Resource Center (CDDRC) will be built on the innovative Mosaic platform to provide a cloud-based collaborative space for organizing, visualizing and understanding genomic data, and for pointing analytic tools to datasets housed anywhere on the cloud. The CDDRC is designed by experts in computational sciences and bioinformatics, in consultation with leaders in the CvDC, PCGC and PHN to be used by non-experts, basic scientists, human geneticists and clinicians. The University of Utah is one of a few institutions in the country that has leadership in all three B2B consortia, reflecting the depth and diversity of our expertise and our commitment to cross-disciplinary collaborations. The CDDRC will provide a suite of cloud-compatible tools and a coordinated and a harmonized set of datasets transported from the previous CvDC DataHub, imported from current CvDC projects, and recruited from the cardiovascular development and pediatric CHD research communities. The CDDRC will facilitate dynamic and investigator- interactive interfaces with multiple -omics datasets from humans and multiple model organisms, resulting in collaborative discoveries of the genetic and epigenetic causes of CHD. In addition, our program will have educational components in Ethical, Legal and Social Implications (ELSI) of CHD genetics and genomics, and an outreach program in CHD computational biology for students from underrepresented groups.

项目摘要 先天性心脏病（CHD）影响美国每年出生的所有儿童中约1％。 NHLBI进行了大量投资，以发现CHD的原因和结果，包括研究 在横跨心血管中基本发现科学的替补席位（B2B）财团中 发展联盟（CVDC），测序临床表型儿童的冠心病和 他们的父母在儿科心脏基因组学联盟（PCGC）以及长期临床随访和 小儿心脏网络（PHN）的结果研究。下一代测序的冒险（NGS） 在心血管发育以及冠心病的遗传学和表观遗传学方面，迅速加速了发现。 CVDC和PCGC都有广泛的NGS数据集。犹他大学的CVDC DataHub 当前是组织NGS数据集和的编程数据仓库和分销服务器 使它们在线上可用。 CVDC数据集很复杂，其中包含来自七个'模型的NGS实验 有机体的物种（小鼠，斑马鱼，人类，鳄鱼，乌龟，鸡肉，绵羊和青蛙）和人类。 重要的是，CVDC中的实验探索了心血管发育的分子病因 通过几种协调的 - 组方法，研究整个基因组转录组和中的变化 表观基因组（染色质修饰剂，转录因子，DNA甲基组和高阶组织 在心脏发育和几种突变遗传背景中的染色质）。 心血管发展数据资源中心（CDDRC）将建立在创新的马赛克上 提供基于云的协作空间来组织，可视化和理解基因组的平台 数据，以及将分析工具指向云上任何位置的数据集。 CDDRC由 计算科学和生物信息学专家，与CVDC，PCGC和 非专家，基本科学家，人类遗传学家和临床医生使用的PHN。犹他大学是 该国少数几个在所有三个B2B财团中都领导领导的机构之一，反映了深度和 我们的专业知识的多样性以及我们对跨学科合作的承诺。 CDDRC将提供 与云兼容的工具以及一组从该工具运输的协调和协调的数据集 以前的CVDC DataHub，从当前的CVDC项目中导入，并从心血管招募 发展和小儿冠心研究社区。 CDDRC将促进动态和研究者 - 与来自人类和多个模型生物的多个摩体数据集的交互式接口，导致 CHD的遗传和表观遗传原因的合作发现。此外，我们的计划将有 CHD遗传学和基因组学的道德，法律和社会含义（ELSI）的教育组成部分以及 CHD计算生物学的外展计划，适用于代表性不足的群体的学生。