IGF::OT::IGF MESA - TOPMED - 08/04/2016 - 12/31/2016

NHLBI Trans-Omics for Precision Medicine(TOPMed)计划将通过收集全基因组测序(WGS)和其他组学数据(例如DNA甲基化签名、RNA表达谱、代谢物谱)与来自心、肺、血液和睡眠(HLBS)疾病研究的分子、行为、成像、环境和临床数据，并将其结合起来，支持研究所更大的精密医学倡议。 TOPMed计划旨在： ·收集并组合-组学(RNAseq、甲基化、代谢组学、表观基因组学和蛋白质组学)数据和不同人群的WGS和临床结果数据，包括那些传统上在研究中代表性较低的人群。 ·建立一个数据共享储存库，科学界可以将其用于未来的研究，并使精确医学成为可能。 ·鼓励系统医学方法，帮助组织数据，以确保数据对健康疾病研究是可访问和可解释的。 ·促进对HLBS疾病的基本机制的发现。 建立WGS项目是TOPMed计划的最初步骤之一。该项目的目标是收集具有明确临床表型和早期NHLBI资助研究结果的个人的WGS数据。最初，WGS项目计划对2万个基因组进行测序。NHLBI已经扩大了WGS项目，现在将对大约6.2万个个体基因组进行测序。

The NHLBI Trans-Omics for Precision Medicine (TOPMed) program will support the Institute’s larger precision medicine initiative by collecting and coupling whole-genome sequencing (WGS) and other -omics data (e.g., DNA methylation signature, RNA expression profiles, metabolite profiles) with molecular, behavioral, imaging, environmental, and clinical data from studies focused on heart, lung, blood and sleep (HLBS) disorders. The TOPMed program aims to: •Collect and assemble -omics (RNASeq, methylation, metabolomics, epigenomics, and proteomics) data with WGS and clinical outcomes data across diverse populations including those traditionally underrepresented in research. •Build a data commons repository that the scientific community can use for future research and to enable precision medicine. •Stimulate systems medicine approaches that help organize data to ensure they are accessible and interpretable for health disease research. •Promote discoveries about the fundamental mechanisms that underlie HLBS disorders. Establishing the WGS project was one of the first steps for the TOPMed program. The project’s goal is to collect WGS data for individuals who have well-defined clinical phenotypes and outcomes from earlier NHLBI-funded studies. Initially, the WGS project planned to sequence 20,000 genomes. The NHLBI has expanded the WGS project and it now will sequence about 62,000 individual genomes.