NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)

Participants from the Atherosclerosis Risk in Communities (ARIC) Study, a large population-based longitudinal cohort study, have been included in this Project and whole genome sequencing will be performed to contribute to analyses of early-onset atrial fibrillation and venous thromboembolism. Additional phenotype and genotype data are available for these individuals on dbGaP and can be accessed through the parent ARIC Cohort accession ([phs000280](study.cgi?study_id=phs000280)). The National Heart, Lung and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program is designed to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders (HLBS). It is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program seeks to uncover factors that increase or decrease the risk of disease, identify subtypes of disease, and develop more targeted and personalized treatments. The Whole Genome Sequencing (WGS) Project is part of NHLBI's TOPMed program and serves as an initial step for the larger initiative.本项目纳入了社区动脉粥样硬化风险（Atherosclerosis Risk in Communities, ARIC）研究——一项大型基于人群的纵向队列研究——的参与者，将对其开展全基因组测序，以助力早发性心房颤动与静脉血栓栓塞症的相关分析。上述受试者的额外表型与基因型数据可在dbGaP数据库获取，并可通过其父队列ARIC队列的登录号[phs000280](study.cgi?study_id=phs000280)进行访问。美国国家心、肺与血液研究所（National Heart, Lung and Blood Institute, NHLBI）的精准医学跨组学（Trans-Omics for Precision Medicine, TOPMed）计划旨在打造科学资源库，以加深对心脏、肺、血液及睡眠障碍（Heart, Lung, Blood and Sleep Disorders, HLBS）核心生物学过程的理解。该计划是更广泛的精准医学倡议的组成部分，该倡议旨在提供基于个体独特基因与环境特征的定制化疾病治疗方案。TOPMed计划将通过整合全基因组测序（Whole Genome Sequencing, WGS）及其他组学数据（如代谢谱、蛋白质与RNA表达模式）与分子、行为、影像、环境及临床数据，为该倡议提供支撑。通过该整合路径，本计划旨在揭示影响疾病风险升降的因素，识别疾病亚型，并开发更具针对性与个性化的治疗方案。全基因组测序（Whole Genome Sequencing, WGS）项目隶属于NHLBI的TOPMed计划，是该更大规模倡议的先期环节。