Cardiovascular Development Data Resource Center (CDDRC)

心血管发育数据资源中心 (CDDRC)

• 批准号: 10027798
• 负责人: Gabor T Marth
• 金额: $ 134.83万
• 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/10027798
• 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; 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 Groups; 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.

项目概要 在美国，每年出生的儿童中大约有 1% 患有先天性心脏病 (CHD)。 NHLBI 投入了大量资金来发现 CHD 的原因和结果，包括研究 工作台到摇篮 (B2B) 联盟的成员，该联盟涵盖心血管领域的基础发现科学 发展联盟 (CvDC)，对临床表型患有 CHD 的儿童进行基因组测序 他们的父母在儿科心脏基因组学联盟（PCGC）中，以及长期的临床随访和 儿科心脏网络 (PHN) 的结果研究。下一代测序 (NGS) 的出现。 迅速加速了心血管发育以及冠心病遗传学和表观遗传学方面的发现。 CvDC 和 PCGC 都拥有广泛的 NGS 数据集，犹他大学的 CvDC 数据中心。 目前作为编程数据仓库和分发服务器来组织 NGS 数据集和 使它们可以在线使用。CvDC 数据集很复杂，包含来自七个“模型”的 NGS 实验。 生物体物种（小鼠、斑马鱼、人类、鳄鱼、乌龟、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（染色质修饰剂、转录因子、DNA 甲基化组和高阶组织） 染色质）在心脏发育过程中和在几种突变遗传背景中。 心血管发展数据资源中心（CDDRC）将建立在创新的 Mosaic 基础上 平台提供基于云的协作空间，用于组织、可视化和理解基因组学 数据，并将分析工具指向云上任何位置的数据集。 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、人类遗传学家和精英人士使用。 该国为数不多的在所有三个 B2B 联盟中都处于领导地位的机构之一，反映了其深度和 我们的专业知识的多样性和我们对跨学科合作的承诺将提供一个。 一套与云兼容的工具和一组协调一致的数据集 以前的 CvDC DataHub，从当前的 CvDC 项目导入，并从心血管招募 CDDRC 将促进动态和研究者的发展和儿科 CHD 研究社区。 与来自人类和多个模型生物体的多个组学数据集的交互界面，从而产生 此外，我们的项目还将合作发现先心病的遗传和表观遗传原因。 先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 针对来自代表性不足群体的学生的 CHD 计算生物学外展计划。