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 |
