Genomic Architecture of Common Disease in Diverse Populations

在常见疾病基因组学中心（CCDG）项目中，人类基因组测序 中心（HGSC）专注于生产基因组数据，以发现相关的等位基因 常见的疾病。我们从大型队列中招募样本，并专注于早发性心脏病患者。 死亡（EOCAD）和颅内出血性卒中（ICH）。我们生成了全基因组序列 (WGS)为了捕获非编码信息并最大限度地识别结构变体， 并与CCDG联盟合作，整合和协调数据，开发和共享大型 变量调用集。技术创新和平台效率降低了基因组测序成本 到目前为止，在计划期间大约增加了两倍。在第五年，我们将完成CCDG计划， 产生额外的13，500个额外的WGS，在EOCAD病例之间分配（9，000个来自 现有样本池约14，000例）和ICH病例（现有样本池约4，500例） 7，000人），特别强调目前在生物医学研究中代表不足的族裔。的 将对数据进行质量控制分析，并结合其他可用数据和其他 CCDG成员，确定疾病-等位基因关联，并提交给AnVIL和其他 适当的数据库。

In the Center's for Common Disease Genomics (CCDG) program, the Human Genome Sequencing Center (HGSC) has focused on production of genomic data to enable discovery of alleles associated with common diseases. We recruited samples from large cohorts and focused on early onset cardiac death (EOCAD) and intracranial hemorrhagic stroke (ICH). We generated whole genome sequences (WGS) in order to capture non-coding information and to maximize identification of structural variants and worked with the CCDG consortia to integrate and harmonize data, developing and sharing large variant call sets. Technical innovations and platform efficiencies reduced genome sequencing costs approximately two-fold over the program period so far. In year five we will complete the CCDG program, generating an additional 13,500 additional WGS, divided between cases of EOCAD (9,000 from an available pool of approximately 14,000) and cases of ICH (4,500 from an available pool of approximately 7,000), with particular emphasis on ethnicities currently under represented in biomedical research. The data will be subjected to quality control analysis and in conjunction with other available data and other CCDG members, ascertained for disease-allele association, and submitted to AnVIL and other appropriate databases.