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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.

155 studies match your filters
Title Short Name Investigator(s) Approx. Sample Size Populations Phases Involved Omics Type
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 AF cases all EA 1, Other Funding WGS
Atrial Fibrillation Biobank Ludwig Maximilian University Study AFLMU

Mortiz Sinner

248 co-funded, 102 phase 2.5 AF onset at ≤65years, or presentation for catheter ablation of AF Other Funding WGS
Integrative Genomic Studies of Heart and Blood Related Traits in Africans Africa6K

Sarah Tishkoff


Scott Williams

Most Ancestries in Africa (7500 Samples) 4, 8 WGS, RNASeq
Integrative Genomic Studies of Heart and Blood Related Traits in Africans Africa6K

Sarah Tishkoff


Scott Williams

7500DNA Most Ancestries in Africa (7500 Samples) 4 WGS
Genetics of Cardiometabolic Health in the Amish Amish

Braxton D. Mitchell

1100 Old Order Amish large extended pedigrees 1 WGS
Genetics of Cardiometabolic Health in the Amish Amish

Braxton D. Mitchell

1100 Old Order Amish large extended pedigrees 1 WGS
Atherosclerosis Risk in Communities Study VTE cohort ARIC

Eric Boerwinkle

3937 adults (aged 45-65 at baseline) who lived in four U.S. communities across the country 2, 6, 8 WGS, RNASeq, 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, 4, 8 WGS, RNASeq
Molecular Mechanisms of Inherited Cardiomyopathies and Arrhythmias in the Australian Familial AF Study AustralianFamilialAF

Diane Fatkin

120 European Ancestry cases with early-onset AF 1 WGS
New Approaches for Empowering Studies of Asthma in Populations of African Descent - Barbados Asthma Genetics Study BAGS

Kathleen Barnes

1100 Barbados families of African descent with >40% of asthmatic members 1 WGS
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


Richa Saxena

White, Black, Asian, Hispanic, White Hispanic, AfroCaribbean, American Indians, 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
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
The Vanderbilt University BioVU Atrial Fibrillation Genetics Study BioVU_AF

M. Benjamin Shoemaker


Dan Roden

Patients with AF referred for AF ablation Other Funding WGS
Boston-Brazil Collaborative Study of Sickle Cell Disease Boston-Brazil_SCD

Vijay G. Sankaran

958 Brazilian 2 WGS
Boston-Brazil Collaborative Study of Sickle Cell Disease Boston-Brazil_SCD

Vijay G. Sankaran

958 patients with SCD from Brazil 2, 5 WGS
Childhood Asthma Management Program CAMP

Scott Weiss

???wgs (ph3), 1700metab (ph5), 1700methyl (ph5) children (ages 5-12 at time of screening) with chronic asthma 3, 5 WGS, Metabolomics, Methylomics
Whole Genome Sequence Analysis in Early Cerebral Small Vessel Disease CARDIA

Myriam Fornage


Lifang Hou

3622WGS (ph3), 9480Methyl (ph5) African American and White Young Adults 3, 5, 8 WGS, Proteomics, Methylomics
Coronary Artery Risk Development in Young Adults CARDIA

Myriam Fornage


Lifang Hou

3622wgs (ph3), 9480methyl (ph5) African American and White Young Adults 3, 5, 8 WGS, RNASeq, Metabolomics, Proteomics, Methylomics
Childhood Asthma Research and Education Network: Best Add-on Therapy Giving Effective Responses CARE_BADGER

Fernando Martinez

Children with mild-to-moderate uncontrolled asthma 3 WGS
Childhood Asthma Research and Education Network: Characterizing the Response to a Leuikotriene Receptor Agonis and an Inhaled Corticosteroid CARE_CLIC

Fernando Martinez

219 Children ages 6-17 with mild-to-moderate asthma 3 WGS
Childhood Asthma Research and Education Network: Pediatric Asthma Controller Trial CARE_PACT

Fernando Martinez

children aged 6-14 with mild-moderate persistent asthma 3 WGS
Childhood Asthma Research and Education Network: Treating Children to Prevent Exacerbations of Asthma CARE_TREXA

Fernando Martinez

Children with mild persistent asthma under good control with low dose ICS 3 WGS
The Duke CATHeterization GENetics Study CATHGEN

William Kraus


Albert Sun

CATHGEN participants (age ≥18 undergoing cardiac catheterization for ischemic heart disease) with AF Other Funding WGS
Cleveland Clinic Atrial Fibrillation Study CCAF

Mina Chung


John Barnard

365 age ≥18 with a history of recurring or persistent lone atrial fibrillation 1 WGS
Cleveland Family Study - WGS Collaboration CFS

Susan Redline

1000 African American 1 WGS
Cleveland Family Study CFS

Susan Redline

1000 African American 1 WGS
Children's Health Study: Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma ChildrensHS_GAP

Frank Gilliland

young adults (over 18 years old) who live in Southern California 3 WGS
Children's Health Study: Integrative Genomics and Environmental Research of Asthma ChildrensHS_IGERA

Frank Gilliland

231 children (Hispanic-White) in southern California 3 WGS
Children's Health Study: Effects of Air Pollution on the Development of Obesity in Children ChildrensHS_MetaAir

Frank Gilliland

overweight or obese children in southern California 3 WGS
Genetics Sub-Study of Chicago Initiative to Raise Asthma Health Equity CHIRAH

Rajesh Kumar

318 participants ages 8-14 or 18-40 with asthma living in Chicago 3 WGS
Cardiovascular Health Study CHS

Bruce Psaty


Russell Tracy

3600 Adults From the USA Aged 65 and Older 3 WGS
Cardiovascular Health Study CHS

Bruce Psaty


Russell Tracy

3600 Adults From the USA Aged 65 and Older 3 WGS
Cardiovascular Health Study CHS VTE

Susan Heckbert

71 adults ≥65 from the USA; adjudicated idiopathic VTE, MI, stroke, or CHD during follow-up 2 WGS
Genetic Epidemiology of COPD COPD

Ed Silverman

100WGS EOCOPD (ph1), 1885WGS COPDGene (ph1), 7400WGS (ph2), 1000WGS COPDGene (ph3), 800RNASeq COPDGene (ph4), 11,500Methyl COPDGene (ph5) >10,000 non-Hispanic white and African-American, nearly all current and former smokers with and without COPD 1, 2, 3, 4, 5, Other Funding WGS, RNASeq, Methylomics
Genetic Epidemiology of COPD Study COPDGene

Ed Silverman

1885 (ph1), 7400 (ph2), 1000 (ph3), 800rna (ph4), 11,500methyl (ph5) African American, non-Hispanic White 1, 2, 3, 4, 5, Other Funding WGS, RNASeq, Methylomics
Genetic Epidemiology of COPD Study COPDGene COPDMet

Ed Silverman

Current, Former, and Never Smokers (ages 45-80) 7 Metabolomics
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 - Asthma in Costa Rica cohort CRA

Scott Weiss

1300wgs (ph1), 1300metab (ph5), 1300methyl (ph5) Costa Rica is a Special Hispanic population with asthma prevalence at 24% 1, 3, 5 WGS, Metabolomics, Methylomics
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) Costa Rica is a Special Hispanic Population with Asthma Prevalence at 24% 1, 3, 5 WGS, Metabolomics, Methylomics
Determining the association of chromosomal variants with non-PV triggers and ablation-outcome in DECAF DECAF

Sanghamitra Mohanty

adults (>18 years) with AF 1 WGS
Diabetes Heart Study DHS

Nicholette Palmer


Donald W. Bowden

European American and African American participants from families with multiple cases of T2D 2 WGS
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
Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points ECLIPSE

Ed Silverman

2400 (ph3) Adults Aged 40-75 with at least 10 Pack-years of Smoking 3 WGS
Estonian Genome Center EGCUT

Tonu Esko

2900wgs adults (age ≥18) from Estonia Other Funding WGS
Boston Early-Onset COPD Study EOCOPD

Ed Silverman

100 early onset (< 53 years) COPD without alpha-1 antitrypsin deficiency and extended pedigrees 1 WGS
Framingham Heart Study FHS

Joanne Murabito


Nancy Heard-Costa


Dan Levy


George O'Connor

4089wgs (ph1), 1861rnaseq (ph5), 3400metab (ph5), 1900methyl (ph5) Three generation European ancestry pedigrees 1, 5, Other Funding WGS, RNASeq, Metabolomics, Proteomics, Methylomics
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