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

TRANS-OMICS for Precision Medicine(TOPMed)是一项全NHLBI计划，旨在通过整合基因组学(如基因组、蛋白质组、代谢组学)和表型数据来产生科学资源，以增强我们对HLBS疾病背后的基本生物学过程的了解，从而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)项目将收集具有良好表型特征和现有临床结果数据的个人的全基因组测序数据。该项目旨在确定疾病风险增加或降低的遗传标记，以及那些有助于确定疾病亚型的遗传标记。WGS项目的第一阶段已经从之前由NHLBI资助的研究中确定了近20,000名参与者进行全基因组测序。第一组参与者包括具有复杂特征(如血脂异常)和以下心、肺、血液和睡眠(HLBS)障碍的个人：房颤、哮喘、慢性阻塞性肺疾病(COPD)、肥胖和睡眠呼吸暂停。目标是建立一种新的基因组资源，反映美国人口的多样性。目前的研究参与者中，几乎有一半是欧洲人后裔，其余的是非洲人、西班牙人和太平洋岛民后裔。目前，WGS项目由9个参与研究中心、4个测序中心、1个信息学研究中心和1个数据协调中心(DCC)进行。随着项目的进展，预计将有其他中心加入该财团。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.