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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
Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease PUSH_SCD

Sergei Nekhai

450 Individuals aged 3-20 years 2 WGS
Pulmonary Vascular Disease Omics Analyses PVDOMICS

Serpil Erzurum


John Barnard


Gerald Beck


Suzy Comhair


Mark Geraci

Adults aged 18 or older 6, 8 WGS, RNASeq, Methylomics
Recipient Epidemiology and Donor Evaluation Study-III REDS-III_Brazil

Brian Custer


Shannon Kelly

2809 Brazilian 2 WGS
San Antonio Family Studies SAFS

John Blangero


Joanne Curran

1142 Mexican American in SAFHS extended pedigrees 1 WGS
Samoan Adiposity Study Samoan

Ryan L Minster

384 (ph1), 912 (ph2) Samoan 1, 2 WGS
Genetics of Sarcoidosis in African Americans Sarcoidosis

Courtney Montgomery

650 African American families 2 WGS
Severe Asthma Research Program SARP

Deborah A Meyers

1900 African American (29%), Hispanic (4%), non-Hispanic whites (60%), other (7%) 2 WGS
Stanford Cardiovascular Institute iPSC Biobank Study SCVI

Joseph Wu


Carlos Bustamante

1500wgs, 450rnaseq African American, Asian, Hispanic, and Caucasian 5 WGS, RNASeq
Silent Infarction Transfusion (SIT) Sickle Cell Disease (SCD) SIT_SCD

James Casella

2 WGS
SubPopulations and InteRmediate Outcome Measures In COPD Study SPIROMICS

Deborah A Meyers

2981 wgs, 5253 rnaseq Adults aged 40-80 years at baseline 4 WGS, RNASeq
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