IGF::OT::IGF - B599 SPECIAL STUDIES/ANALYSIS- OTHER

精准医学的Trans-Omics（TOPMed）是一项NHLBI范围内的倡议，旨在通过整合组学（例如，基因组学、蛋白质组学、代谢组学）和表型数据，以努力改善这些疾病的预测、预防、诊断和治疗。为了支持NHLBI TOPMed计划，全基因组测序（WGS）项目将从具有良好表征的表型和现有临床结果数据的个体中收集全基因组测序数据。该项目旨在确定增加或减少疾病风险的遗传标记，以及帮助定义疾病亚型的遗传标记。WGS项目的初始阶段已经确定了近20，000名来自NHLBI资助的研究的参与者进行全基因组测序。这第一组参与者包括具有复杂特质的个体（例如，血脂异常）和以下心脏、肺、血液和睡眠（HLBS）病症：心房纤颤、哮喘、慢性阻塞性肺病（COPD）、肥胖和睡眠呼吸暂停。其目的是建立一个新的基因组资源，反映了美国人口的多样性。目前的研究参与者中几乎有一半是欧洲血统，其余是非洲人，西班牙裔和太平洋岛民血统。目前，WGS项目由九个参与研究中心、四个测序中心、一个信息学研究中心和一个数据协调中心（DCC）进行。随着项目的进展，预计其他中心将加入该联盟。国家生物技术中心将提供档案和生物信息学支持。

Trans-Omics for Precision Medicine (TOPMed) is an NHLBI-wide initiative to generate scientific resources to enhance our understanding of fundamental biological processes that underlie HLBS disorders through the integration of –omics (e.g., genomic, proteomic, metabolomic) and phenotypic data in an effort to improve the prediction, prevention, diagnosis, and treatment of these disorders. To support the NHLBI TOPMed program, the Whole-Genome Sequencing (WGS) project will collect whole-genome sequencing data from individuals with well characterized phenotypes and existing clinical outcome data. This project aims to identify genetic markers of increased or decreased risk of disease, as well as those that help define disease subtypes. The initial phase of the WGS project has identified nearly 20,000 participants from previous NHLBI-funded studies to undergo whole-genome sequencing. This first set of participants includes individuals that have complex traits (e.g., dyslipidemia) and the following heart, lung, blood and sleep (HLBS) disorders: Atrial fibrillation, Asthma, Chronic obstructive pulmonary disease (COPD), Obesity,and Sleep apnea. The objective is to establish a novel genomic resource that is reflective of the diversity of the US population. Almost half of current study participants are of European descent, with the remainder being people of African, Hispanic and Pacific Islander ancestry. Currently, the WGS project is being conducted by nine participating research centers, four sequencing centers, an informatics research center, and a Data Coordinating Center (DCC). As the project progresses, it is anticipated that other centers will join the consortium. The National Center for Biotechnology will provide archival and bioinformatics support.