What is TOPMed?
Trans-Omics for Precision Medicine (TOPMed), is a program of the National Heart, Lung and Blood Institute (NHLBI), a part of the National Institutes of Health, which aims to improve scientific understanding of the fundamental biological processes that underlie heart, lung, blood, and sleep (HLBS) disorders and advance precision medicine in ways that lead to disease treatments tailored to individuals’ unique genes and environments.
TOPMed supports these scientific advances through the integration of whole-genome sequencing (WGS) and other omics data (e.g., metabolic profiles, epigenomics, protein and RNA expression patterns) with molecular, behavioral, imaging, environmental, and clinical data from pre-existing parent studies that have large samples of human subjects with rich phenotypic characterization and environmental exposure data. TOPMed also collects environmental and behavioral data, such as dietary habits, physical activity, and socioeconomic factors, to provide a more comprehensive understanding of the factors that contribute to these disorders.
TOPMed Artificial Intelligence Initiative (TOPMed-AI)
NHLBI’s TOPMed program aims to leverage the power of artificial intelligence (AI) and machine learning (ML) to accelerate the understanding of HLBS disorders. By utilizing the vast genomic data resources available through TOPMed and the computing infrastructure of BioData Catalyst (BDC), researchers will be able to develop advanced AI methods to analyze complex data and identify patterns that may lead to new insights and potential innovations for precision medicine. The initiative will bring together AI/ML and other multidisciplinary experts to collaborate on innovative approaches to analyze and interpret TOPMed data. The coordination center (AI-CC) at Westat serves as the central hub for coordinating research projects.
Initial use-cases for the TOPMed-AI initiative include:
- Women’s health across the lifespan, starting with a focus on mid-life/menopause transition.
- Imaging of lung disease. Radiogenomics focusing on chest CT data and including other imaging data as the program evolves.
Explore the Data
The TOPMed program provides data resources for researchers studying heart, lung, blood, and sleep disorders. These data resources include various types of genomic and other data, such as whole-genome sequencing, whole-exome sequencing, RNA sequencing, epigenetic data, metabolomic data, and proteomic data. Researchers who wish to access TOPMed data, including electronic health records, medical imaging data, and other patient health information, must get approval through the Database of Genotypes and Phenotypes (dbGaP). Once approval is granted, researchers can access the data from NHLBI BioData Catalyst® (BDC) or dbGaP.
Resources for the Scientific Community
TOPMed data are being made available to the scientific community as a series of “data freezes”:
- genotypes and phenotypes via dbGaP
- read alignments via the Sequence Read Archive (SRA)
- variant summary information via the Bravo variant server
- single nucleotide polymorphisms (dbSNP)
TOPMed WGS data are contained in study-specific accessions with names containing “NHLBI TOPMed,” while most phenotypic data are in parent study accessions. The TOPMed accessions can be identified by searching the dbGaP website for “TOPMed.” More information about the available data and how to access it can be found on the Data Access page.