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

NHLBI精准医学跨组学（TOPMed）计划将通过收集和耦合全基因组测序（WGS）和其他组学数据（例如，DNA甲基化特征、RNA表达谱、代谢物谱）与来自心脏、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。 TOPMed计划旨在： ·使用WGS收集和组装组学（RNASeq，甲基化，代谢组学，表观基因组学和蛋白质组学）数据以及不同人群（包括传统上在研究中代表性不足的人群）的临床结果数据。 ·建立一个数据共享库，科学界可以用于未来的研究，并实现精准医学。 ·刺激系统医学方法，帮助组织数据，以确保它们可用于健康疾病研究。 ·促进发现HLBS疾病的基本机制。 建立WGS项目是TOPMed计划的第一步。该项目的目标是收集WGS数据的个人谁有明确的临床表型和结果从早期NHLBI资助的研究。最初，WGS项目计划对20，000个基因组进行测序。NHLBI已经扩大了WGS项目，现在将对大约62，000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.