Cardiovascular Development Data Resource Center (CDDRC)

项目总结 在美国，每年出生的儿童中约有1%患有先天性心脏病。 NHLBI在发现CHD的原因和结果方面做出了重大投资，包括研究 在横跨心血管基础发现科学的长凳到摇篮(B2B)联盟中 发展联盟(CvDC)，对临床表型CHD和CHD儿童的基因组测序 他们的父母在儿科心脏基因组学联合会(PCGC)，和长期的临床随访和 儿科心脏网络(PHN)的结果研究。下一代测序(NGS)的到来 迅速加速了心血管发育和冠心病的遗传学和表观遗传学的发现。 CvDC和PCGC都有广泛的NGS数据集。犹他大学的CvDC数据中心 目前用作编程数据仓库和分发服务器，用于组织NGS数据集和 使它们在网上可用。CvDC数据集很复杂，包含来自SEVEN模型的NGS实验 生物物种(老鼠、斑马鱼、人类、短吻鳄、海龟、鸡、羊和青蛙)和人类。 重要的是，CvDC的实验探索了心血管发育的分子病因学。 通过几种协调组学方法，研究全基因组转录组和 表观基因组(染色质修饰物、转录因子、DNA甲基组和高阶组织 在心脏发育和几个突变的遗传背景中)。 心血管发展数据资源中心(CDDRC)将建立在创新的马赛克 为组织、可视化和了解基因组提供基于云的协作空间的平台 数据，并将分析工具指向位于云中任何位置的数据集。CDDRC由以下人员设计 计算科学和生物信息学专家，与CvDC、PCGC和 PHN供非专家、基础科学家、人类遗传学家和临床医生使用。犹他大学是 国内为数不多的在所有三个B2B财团中都有领导地位的机构之一，反映了深度和 我们专业知识的多样性和我们对跨学科合作的承诺。发改委将提供一个 一套与云兼容的工具和一组协调一致的数据集 以前的CvDC数据中心，从当前的CvDC项目导入，从心血管系统招募 发展和儿科CHD研究社区。CDDRC将促进动态和调查人员- 与来自人类和多个模式生物的多组学数据集的交互界面，导致 共同发现先天性心脏病的遗传和表观遗传原因。另外，我们的节目将会有 冠心病遗传学和基因组学的伦理、法律和社会影响(ELSI)的教育内容，以及 CHD计算生物学的外展计划，面向来自代表性不足群体的学生。

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.