CHARGE consortium: gene discovery for CVD and aging phenotypes

全基因组关联研究联盟通常围绕特定的表型进行组织 例如糖尿病和乳腺癌，以发现与基因变异的联系。心脏的同龄人 而基因组流行病学中的老龄化研究(CHARE)联盟是由大型- 以人群为基础的队列研究，以促进对广泛的 表型。从最初的5项研究扩大到10项，指控队列有重复的风险测量 因素、亚临床疾病测量和心血管事件，所有这些都以标准化的方式收集。 他们的合作代表了一种独特的资源，用于识别与各种 心血管和衰老表型。自2011年以来，在收费基础设施赠款的资助下 (HL105756)，该财团蓬勃发展。使用Gwas和稀有变量数据，现在收费出版物 数量超过643篇，其中许多是在高影响力的期刊上发表的。在NHLBI、NHGRI和NIA的资助下， 许多指控队列最近获得了新的遗传和组学数据：1)全基因组 39,819名受试者的序列(WGS)数据；2)28,346名受试者的完整外显子序列(WES)数据；3) 16,083的甲基化数据；4)12,133的基因表达数据；5)25,521的代谢组学数据；和6) 基于适体的蛋白质组学数据，在11,306。Charge及其40个活跃的工作组，他们合作 并与NIH的项目协调，如NHLBI的Trans-Omics for Precision Medicine，是很好的 定位以适应遗传流行病学的所有三个新方向-大规模合作， 基因组序列数据和其他组学数据。此应用程序的新增功能是Charge DBGaP摘要 用于公开发布汇总结果的结果网站，用于汇总分析的分析共用空间 序列数据和组学数据，以及孟德尔随机化委员会的分析支持 这些创新的方法。这一竞争性续订应用程序的目标是加速发现 心血管系统疾病的潜在机制通过对基因组数据和 通过整合多种形式的大型变异体来识别发现的变体的功能意义 规模组学数据。这一竞争性续签申请的目标是：1)提供类似协调中心的 为电话会议、工作组、委员会和会议提供行政支持；2)组织两次 每年主要的面对面会议；3)为提交最佳报告的新调查人员提供旅行奖励 为主管会议上的演示文稿或海报提供摘要；4)为团契提供支持 为学生、研究员和初级教员付费在另一个地点工作的交换 项目；以及5)为队列参与提供适度支持。该财团推动了广泛的 协作。对于初级调查人员，奖学金交流和旅行奖励也促进了合作， 加强现有科学，提高对我们未来科学家的培养。

Consortia of genome-wide association studies (GWAS) have often organized around specific phenotypes such as diabetes and breast cancer to discover associations with genetic variants. The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium was instead formed from large- population-based cohort studies to facilitate prospectively-planned GWAS meta-analyses of a wide range of phenotypes. Expanded from the original 5 studies to 10, CHARGE cohorts have repeated measures of risk factors, subclinical disease measures, and cardiovascular events, all collected in a standardized fashion. Their collaboration represents a unique resource for identifying genetic loci associated with a variety of cardiovascular and aging phenotypes. Since 2011, with funding from the CHARGE infrastructure grant (HL105756), the consortium has thrived. Using GWAS and rare-variant data, CHARGE publications now number more than 643, many in high impact journals. With funding from the NHLBI, NHGRI, and the NIA, many of the CHARGE cohorts have recently obtained new genetic and omics data: 1) whole-genome sequence (WGS) data on 39,819 subjects; 2) whole-exome sequence (WES) data on 28,346; 3) methylation data on 16,083; 4) gene expression data on 12,133; 5) metabolomics data on 25,521; and 6) aptamer-based proteomics data on 11,306. CHARGE and its 40 active Working Groups, which collaborate and coordinate with NIH programs such as the NHLBI's Trans-Omics for Precision Medicine, are well positioned to accommodate all three new directions in genetic epidemiology—large-scale collaborations, genomic sequence data, and other omics data. New to this application are the CHARGE dbGaP Summary Results Website for public posting of summary results, the Analysis Commons for pooled analyses of sequence data and omics data, and the Mendelian Randomization Committee for analytic support with these innovative methods. The goals of this competing renewal application are to accelerate discovery of mechanisms underlying diseases of the cardiovascular system through robust analysis of genomic data and to identify the functional significance of the discovered variants through integration of multiple forms of large scale omics data. The aims of this competing renewal application are: 1) to provide coordinating center-like administrative support for conference calls, working groups, committees, and meetings; 2) to organize two major in-person meetings per year; 3) to provide travel awards for new investigators who submit the best abstracts for presentations or posters at the CHARGE meetings; 4) to provide support for fellowship exchanges for students, fellows and junior faculty to spend time working at another site on a CHARGE project; and 5) to provide modest support for cohort participation. The consortium promotes widespread collaboration. For junior investigators, the fellowship exchanges and travel awards also foster collaboration, enhance the current science, and improve the training of our future scientists.