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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
Genomics of Myelodysplastic Syndromes MDS

Matthew Walter


R. Coleman Lindsley


Christopher Miller


Eric Padron


Wael Saber

Adults aged 18 or older 7 WGS, RNASeq
Multi-Ethnic Study of Atherosclerosis MESA

Jerome Rotter


Stephen Rich

4595 Multi-ethnic populations 2, 6, 8, Other Funding WGS, RNASeq, Metabolomics, Proteomics, Methylomics
My Life, Our Future: Genotyping for Progress in Hemophilia MLOF

Barbara Konkle


Jill Johnsen

2188 (ph2), 2959 (ph3) Adults and children with hemophilia A 2, 3, 6 WGS, RNASeq
MACS/WIHS COMBINED COHORT STUDY MWCCS 9 Metabolomics, Proteomics
nuMoM2b-Heart Health Study nuMoM2b-HHS

Nathan Blue


Becky McNeil

Hispanic (17%), non-Hispanic Black (14%), Asian (4%), other (5%), non-Hispanic White (60%) 7 WGS
Outcome Modifying Genes in Sickle Cell Disease OMG_SCD

Allison Ashley-Koch


Marilyn Telen

675 Adults from North Carolina and Georgia 2 WGS
Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank PCGC_CHD

Bruce Gelb


Christine Seidman

3230wgs (ph4), 308rnaseq (ph4) Children and adults 4 WGS, RNASeq
Pharmacogenomics of Bronchodilator Response in Minority Children with Asthma PGX_Asthma

Esteban Burchard


Ryan Hernandez

1500 African American, Puerto Rican, and Mexican ancestry 1, Other Funding WGS
The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease PharmHU

Eric Boerwinkle


Betty Sue Pace


Vivien Sheehan

1454 Pediatric patients 2, 6 WGS, RNASeq
Pakistan Risk of Myocardial Infarction Study PROMIS

Danish Saleheen

4,211 (wgs ph4), 3,750 (wgs ph+ topmed & ccdg co-funded) South Asian ancestry from Pakistan 4, Other Funding WGS
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