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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
Trans-Omics for Precision Medicine for Congestive Heart Failure TOPCHeF

Matthew Taylor


Sharon Graw


Luisa Mestroni

1078RNASeq, 1078WGS Multi-ancestry 4 WGS, RNASeq
The Genetic Causes of Unexplained Cardiomyopathies UNID_CM

Jonathan Seidman


Christine Seidman

1050WGS, 400RNAseq All ages, newborn to adults 5 WGS, RNASeq
Venous Thromboembolism project VTE

Eric Boerwinkle

6000 2, 6 WGS, Methylomics
Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy walk_PHaSST

Victor Gordeuk


Seyed Mehdi Nouraie


Yingze Zhang

597 Male or Female Aged 12-70 Years with SCD Diagnosis 2 WGS
Women's Health Initiative WHI

Charles Kooperberg


Alex Reiner

11,100WGS, 1400RNAseq (ph4), 1400Metab (ph5), 1400Methyl (ph5) Women aged 50-79 years 2, 4, 5, 7 WGS, RNASeq, Metabolomics, Proteomics, Methylomics
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