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

精准医学跨组学 (TOPMED) 信息学研究中心 (IRC)

• 批准号: 10648086
• 负责人: GONCALO ALBECASIS
• 金额: $ 439.43万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-04-01 至 2023-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10648086
• 关键词: Cohort Studies; Complement; Computer software; DNA Methylation; Data; Development; Disease; Freezing; Genomics; Individual; Informatics; Joints; Manuals; Metadata; Multiomic Data; National Heart, Lung, and Blood Institute; Phenotype; Procedures; Process; RNA Sequences; Research; Sampling; Sequence Analysis; Trans-Omics for Precision Medicine; Variant; catalyst; computerized data processing; database of Genotypes and Phenotypes; genomic data; metabolomics; operation; programs; tool; whole genome; working group

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.

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个表型良好的个体中收集全基因组序列（WGS），目前正在从其中许多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TOPM WGS和组学数据。IRC在TOPMed程序的所有关键节点提供关键管道和工具，以处理数据并使数据流顺畅。它将TOPM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，生成基因组汇总数据，并通过插补服务器、BDC、BRAVO变体服务器和Encore分析服务器共享这些数据。