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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
African American Coronary Artery Calcification project AA_CAC

Kent D. Taylor


Jerome Rotter

1409 African American families 2 WGS
Identification of Common Genetic Variants for Atrial Fibrillation and PR Interval - Atrial Fibrillation Genetics Consortium AFGen

Patrick Ellinor

2799 European ancestry 1, Other Funding WGS
Integrative Genomic Studies of Heart and Blood Related Traits in Africans Africa6K

Sarah Tishkoff


Scott Williams

7500dna African ancestry 4 WGS
Genetics of Cardiometabolic Health in the Amish Amish

Braxton D. Mitchell

1100 Old Order Amish large extended pedigrees 1 WGS
Venous Thromboembolism project ARIC+VTE

Eric Boerwinkle

6000 African American (20%) 2, 6 WGS, Methylomics
Asthma Translational Genomics Collaborative ATGC

Esteban Burchard


L. Keoki Williams


Hakon Hakonarson

15580 wgs ph3, 3500 rnaseq ph4 African American, Mexican, and Puerto Rican individuals 3 WGS, RNASeq
Barbados Asthma Genetics Study BAGS

Kathleen Barnes

1100 Barbados families of African descent with >40% of asthmatic members 1 WGS
The Boston-Colombia Collaborative for Adverse Pregnancy Outcomes BCC-PREG

Kathryn J. Gray


Juan P Casas Romero

White, Black, Asian, Hispanic, White Hispanic, AfroCarribean, Ameridians, Mixed 7 WGS
Mount Sinai BioMe Biobank BioMe

Ruth J.F. Loos


Eimear Kenny

8769 cad, 2644 copd African American (24%), Hispanic/Latino (35%), European (32%), Other (10%) 3 WGS
Boston-Brazil Collaborative Study of Sickle Cell Disease Boston-Brazil_SCD

Vijay G. Sankaran

958 Brazilian 2 WGS

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