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TOPMed

Projects & Studies

Filter the Project and Parent Study tables below to display types of sequencing or start phase.

Parent studies are studies that were selected for inclusion in TOPMed to have their samples sequenced. Parent studies may be:

Cohort studies 

  • Framingham Heart Study (FHS)
  • Jackson Heart Study (JHS) 
  • Atherosclerosis Risk in Communities (ARIC) 
  • Cardiovascular Health Study (CHS) 
  • Coronary Artery Risk Development in Young Adults Study (CARDIA) 
  • Multi-Ethnic Study of Atherosclerosis (MESA) 

Other studies

  • Case-control (i.e., Chronic Obstructive Pulmonary Disease Gene Study (COPDGene))
  • Randomized trial (i.e., Women’s Health Initiative (WHI))
  • Family-based, (i.e., Genetic Epidemiology of Asthma in Costa Rica (CRA))
  • Case-only (i.e., Genes-environments and Admixture in Latino Asthmatics (GALAII) and Study of African Americans, Asthma, Genes and Environments (SAGE) studies)
  • Other designs

Projects are a collection of one or more parent studies. Some are derived from a single parent study by selecting a subset of subjects according to various criteria (e.g., relatedness, phenotypes of interest or extent of phenotypic characterization). Some consist of a consortium of investigators from multiple parent studies that each contribute subjects with a common phenotype of interest (e.g., atrial fibrillation cases from each of several studies, along with controls from the same or other studies.)

Funded Programs are projects funded by TOPMed/NIH through various funding mechanisms (U01, R01, and others).

TOPMed Projects and Parent Studies

Notes: You may encounter phs links that redirect to a dbGaP error page in the table below. If so, this is because the TOPMed dbGaP study webpages do not go live until the study accession is released. Counts of samples released in parent study-level dbGaP accessions are available in the dbGaP methods documents for each freeze under Data Sets.

Title Short Name Investigator(s) Approx. Sample Size Populations Phases Involved Type of Omics
Whole Genome Sequence Analysis in Early Cerebral Small Vessel Disease CARDIA

Myriam Fornage


Lifang Hou

3622wgs (ph3), 9480methyl (ph5) African American and Caucasian young adults 3, 5, 8 WGS, Proteomics, Methylomics
Cleveland Family Study CFS

Susan Redline

1000 African American 1 WGS
Cardiovascular Health Study CHS

Bruce Psaty


Russell Tracy

3600 Adults in the USA aged 65 and older 3 WGS
Genetic Epidemiology of COPD COPDGene

Ed Silverman

100wgs eocopd (ph1), 1885wgs copdgene (ph1), 7400wgs (ph2), 1000wgs copdgene (ph3), 800rnaseq copdgene (ph4), 11,500methyl copdgene (ph5) Non-Hispanic White and African-American, current and former smokers with and without COPD (>10,000) 1, 2, 3, 4, 5, Other Funding WGS, RNASeq, Methylomics
Plasma and BALF Metabolomics in COPDGene and SPIROMICS COPDMet

Russell Bowler

Current, former, and never smokers 7 Metabolomics
The Genetic Epidemiology of Asthma in Costa Rica and the Childhood Asthma Management Program CRA_CAMP

Scott Weiss

1300wgs (ph1), 5319wgs (ph3), 3000metab (ph5), 3000methyl (ph5) Hispanic population with asthma prevalence at 24% 1, 3, 5 WGS, Metabolomics, Methylomics
Down Syndrome Associated Atrioventricular Septal Defects: New Omic Resources DS_CHD

Stephanie L. Sherman

471wgs (ph5.5) Parent-Offspring Trios Other Funding WGS
Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints ECLIPSE

Ed Silverman

2400 (ph3) Adults aged 40-75 with at least 10 pack-years of smoking 3 WGS
Framingham Heart Study FHS

Joanne Murabito


Nancy Heard-Costa


Dan Levy


George O'Connor

4089wgs (ph1), 1861rnaseq (ph5), 3400metab (ph5), 1900methyl (ph5) European ancestry 1, 5, Other Funding WGS, RNASeq, Metabolomics, Proteomics, Methylomics
Genetics, Epigenetics and Metabolomics of OSA subtypes GEM-OSA

Allan Pack


Julie Carrier


Ulysses Magalang


Emmanuel Mignot


Najib Ayas

Canada and United States 7 WGS, Metabolomics, Methylomics
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