topmed

is a Data Source.

The NHLBI Trans-Omics for Precision Medicine (TOPMed) program generates scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood, and sleep disorders, providing whole genome sequencing and multi-omics data from diverse populations.

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genomics, clinical, precision medicine, biomedical, cardiovascular disease, genetic variation

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topmed

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Product Summary

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From this Resource
ID Name URL Category Format Description
topmed.portal TOPMed Portal topmed.nhlbi.nih.gov Graphical Interface http TOPMed program website for navigating...
topmed.data-access TOPMed Data Access data-access Graphical Interface http TOPMed data access page with instruct...
topmed.wgs-counts TOPMed WGS Counts PDF TOPMed%20WGS%20Counts%2020250505.pdf (432.5 KB) Documentation pdf PDF summary table of whole-genome seq...
From other Resources
ID Name URL Category Format Relation Description
dbnsfp.academic dbNSFP Academic Branch download Product tsv had primary source Academic branch of dbNSFP (v5.4a at t...
dbnsfp.commercial dbNSFP Commercial Branch license Product tsv had primary source Commercial branch of dbNSFP (v5.4c at...
biodata-catalyst.portal BioData Catalyst Portal biodatacatalyst.nhlbi.nih.gov Graphical Interface http had primary source BioData Catalyst portal, the entry po...
biodata-catalyst.picsure BDC PIC-SURE picsure.biodatacatalyst.nhlbi.nih.gov Graphical Interface http had primary source BDC PIC-SURE (Patient Information Com...
biodata-catalyst.picsure-api ⚠ BDC PIC-SURE API picsure Programming Interface http had primary source PIC-SURE REST API for programmatic qu...
biodata-catalyst.gen3 BDC Gen3 Data Commons gen3.biodatacatalyst.nhlbi.nih.gov Graphical Interface http had primary source BDC Gen3 data commons for browsing st...
biodata-catalyst.imputation-server TOPMed Imputation Server imputation.biodatacatalyst.nhlbi.nih.gov Process http had primary source TOPMed Imputation Server, a web servi...
biodata-catalyst.analysis-platforms BDC Analysis Platforms (Terra and Seven Bridges) terra.biodatacatalyst.nhlbi.nih.gov Graphical Interface http had primary source Cloud analysis workspaces available w...

Details

NHLBI Trans-Omics for Precision Medicine

Overview

The NHLBI Trans-Omics for Precision Medicine (TOPMed) program is a major initiative by the National Heart, Lung, and Blood Institute to generate scientific resources that enhance understanding of fundamental biological processes underlying heart, lung, blood, and sleep (HLBS) disorders. TOPMed combines whole genome sequencing with extensive phenotypic characterization across diverse populations, creating one of the largest and most comprehensive genomic medicine resources.

Program Scope

Data Generation

  • Whole Genome Sequencing: Deep coverage WGS from diverse cohorts
  • Multi-Omics: RNA-seq, metabolomics, proteomics, epigenomics
  • Sample Size: Over 180,000 individuals sequenced
  • Diversity: Represents multiple ancestries and ethnic backgrounds
  • Phenotyping: Extensive clinical and phenotypic data

Focus Areas

  • Cardiovascular diseases
  • Pulmonary disorders
  • Hematologic conditions
  • Sleep disorders
  • Risk factor assessment (blood pressure, lipids, etc.)

Key Features

  • Population Diversity: Includes underrepresented populations in genomic research
  • Longitudinal Data: Many cohorts have decades of follow-up
  • Deep Phenotyping: Rich clinical, environmental, and lifestyle data
  • Reference Panels: High-quality haplotype reference for imputation
  • Variant Catalog: Comprehensive catalog of genetic variation
  • Integrated Analysis: Links genomic data with multi-omic and phenotypic information

Data Types

Genomic Data

  • Whole genome sequences (30-40x coverage)
  • Variant calls (SNVs, indels, structural variants)
  • Haplotype phasing
  • Reference panels for genotype imputation

Phenotypic Data

  • Disease diagnoses and outcomes
  • Quantitative traits (blood pressure, lipids, lung function, etc.)
  • Electronic health records
  • Medication history
  • Environmental exposures
  • Lifestyle factors

Multi-Omic Data

  • RNA sequencing (gene expression)
  • Metabolomics profiles
  • Proteomic measurements
  • Epigenetic marks (DNA methylation)

Applications

Precision Medicine

  • Genetic risk prediction for HLBS diseases
  • Pharmacogenomics and treatment response
  • Disease subtype classification
  • Personalized intervention strategies

Scientific Discovery

  • Novel gene-disease associations
  • Rare variant identification
  • Pleiotropy and genetic correlation analysis
  • Functional genomics insights
  • Population genetics and evolution

Clinical Translation

  • Biomarker discovery
  • Drug target identification
  • Clinical trial design
  • Diagnostic test development

Data Access

dbGaP Repository

  • Controlled-access individual-level data
  • Phenotype and genotype files
  • Application process for researchers

Public Resources

  • Summary statistics
  • Allele frequencies (TOPMed Bravo variant browser)
  • Reference panels for imputation
  • Analysis pipelines and tools

Participating Cohorts

TOPMed includes data from numerous established cohort studies:

  • Framingham Heart Study
  • Jackson Heart Study
  • Multi-Ethnic Study of Atherosclerosis (MESA)
  • Women’s Health Initiative (WHI)
  • Genetic Studies of Atherosclerosis Risk (GeneSTAR)
  • And many others

Computational Resources

  • Analysis Pipelines: Standardized workflows for variant calling, QC, and analysis
  • Cloud Computing: Integration with cloud platforms (BioData Catalyst)
  • Tools and Software: Open-source analysis tools
  • Imputation Server: TOPMed Imputation Server for genotype imputation

Information Resource ID

This resource has the Information Resource identifier: infores:topmed

Access

  • Homepage: https://topmed.nhlbi.nih.gov/
  • Data Access: https://www.ncbi.nlm.nih.gov/gap/ (dbGaP)
  • Variant Browser: https://bravo.sph.umich.edu/freeze8/hg38/
  • Imputation Server: https://imputation.biodatacatalyst.nhlbi.nih.gov/

For more information about TOPMed and data access, visit https://topmed.nhlbi.nih.gov/

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Created: October 30, 2025 | Last modified: September 23, 2026