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

NHLBI Trans-omics for Precision Medicine （TOPMed）项目旨在利用基因组学数据和组学数据来表征各种HLBS疾病。TOPMed项目正在从超过181,000个表型良好的个体中收集全基因组序列（WGS），目前正在从这些个体中生成多组学数据（例如超过17,700个RNA序列，超过26,170个DNA甲基化，7,425个代谢组学谱），以补充全基因组序列信息。

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.