TRANS-OMICS FOR PRECISION MEDICINE (TOPMED) INFORMATICS RESEARCH CENTER (IRC)

NHLBI 精准医学跨组学 (TOPMed) 计划旨在利用基因组学数据和组学数据来表征各种 HLBS 疾病。 TOPMed 计划正在从超过 181,000 个表型良好的个体收集全基因组序列 (WGS)，目前正在从其中许多个体生成多组学数据（例如超过 17,700 个 RNA 序列、超过 26,170 个 DNA 甲基化、7,425 个代谢组学图谱），以补充全基因组序列信息。 TOPMed 信息学研究中心 (IRC) 是 TOPMed 的重要组成部分。 IRC 传输、处理和存储 TOPMed WGS 和组学数据。 IRC在TOPMed项目的所有关键时刻提供关键管道和工具来处理数据并赋能数据顺利流动。它将 TOPMed 数据上传到 dbGaP 和 NHLBI BioData Catalyst (BDC)。 IRC处理原始数据，进行数据冻结和联合调用，生成基因组摘要数据，并通过Imputation Server、BDC、BRAVO Variant Server和Encore Analysis Server共享它们。

The NHLBI Trans-omics for Precision Medicine (TOPMed) program aims to utilize genomics data and omics data to characterize a variety of HLBS diseases. The TOPMed program is well on its way to collect whole genome sequence (WGS) from over 181,000 well-phenotyped individuals and is currently generating multi-omics data (e.g. over 17,700 RNA sequences, over 26,170 DNA methylation, 7,425 metabolomics profiles) from many of these individuals to complement whole genome sequence information. The TOPMed Informatics Research Center (IRC) is a critical component of TOPMed. IRC transfers, processes, and stores TOPMed WGS and omics data. IRC provides critical pipelines and tools at all critical junctures in TOPMed program to processing data and empower the data flow smoothly. It upload TOPMed data into dbGaP and NHLBI BioData Catalyst (BDC). IRC processes raw data, conduct data freezes and joint calls, generated genomic summary data, and share them through the Imputation Server, BDC, the BRAVO Variant Server, and the Encore Analysis Server.