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 | 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 |
| Integrative Genomic Studies of Heart and Blood Related Traits in Africans | Africa6K |
Sarah Tishkoff Scott Williams |
7500DNA | 4 | WGS | |
| Genetics of Cardiometabolic Health in the Amish | Amish |
Braxton D. Mitchell |
1100 | Old Order Amish large extended pedigrees | 1 | WGS |
| Asthma Translational Genomics Collaborative | ATGC |
Esteban Burchard L. Keoki Williams Hakon Hakonarson |
15580 WGS ph3, 3500 RNAseq ph4 | 3, 4, 8 | 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 |
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 |
| Boston-Brazil Collaborative Study of Sickle Cell Disease | Boston-Brazil_SCD |
Vijay G. Sankaran |
958 | Brazilian | 2 | WGS |
| 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 |
| Cleveland Family Study | CFS |
Susan Redline |
1000 | African American | 1 | WGS |
| Cardiovascular Health Study | CHS |
Bruce Psaty Russell Tracy |
3600 | Adults From the USA Aged 65 and Older | 3 | 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) | African American (30%) | 1, 2, 3, 4, 5, Other Funding | WGS, RNASeq, Methylomics |
| 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 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 |
| 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 |
| 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 |
| Genetics, Epigenetics and Metabolomics of OSA subtypes | GEM-OSA |
Allan Pack Ulysses Magalang Emmanuel Mignot Najib Ayas |
Canada and United States | 7 | WGS, Metabolomics, Methylomics | |
| Genetic Studies of Atherosclerosis Risk | GeneSTAR |
Lisa Yanek |
1400 | African American families, European families | 2, Other Funding | WGS |
| Genetic Epidemiology Network of Salt Sensitivity | GenSalt |
Jiang He |
1860 | Families in Rural China | 2 | WGS |
| Genetics of Lipid Lowering Drugs and Diet Network | GOLDN |
Donna K Arnett |
967 | European families | 2 | WGS |
| Hispanic Community Health Study - Study of Latinos | HCHS_SOL |
Robert Kaplan Kari North |
2270 | Latinos with ancestry from Cuba, Dominican Republic, Mexico, Puerto Rico, Central and South Americas | 3 | WGS |
| Hemophilia Inhibitor PUPs study | HIPS |
Deborah Brown |
Individuals with severe hemophilia A and weight >3.5 kg | 7 | WGS, RNASeq | |
| Genetic Variation of Heart, Lung, and Kidney Disease in Sickle Cell Disease: Pre- and Post-Curative Therapies | HLKSCD |
Michael DeBaun Bingshan Li Victor Gordeuk Todd Edwards Guolian Kang Santosh Saraf |
Adults and children from three SCD centers | 7 | WGS | |
| Hypertension Genetic Epidemiology Network and Genetic Epidemiology Network of Arteriopathy | HyperGEN_GENOA |
Donna K Arnett |
3161 | African American families | 2 | WGS |
| Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis | IPF |
David Schwartz Tasha Fingerlin |
1500 | Diagnosis of IPF and Known or Presumed European Ancestry | 3 | WGS |
| Jackson Heart Study | JHS |
Laura Raffield Bertha Hidalgo |
3500 | African American Mixed Family and Population-based | 1 | WGS |
| Lung Tissue Research Consortium | LTRC |
Ed Silverman |
1548WGS (ph4), 1648RNASeq (ph4), 3196Methyl (ph5) | Individuals with Lung Diseases, Primarily COPD and ILD | 4, 5, 8 | WGS, RNASeq, Proteomics, Methylomics |
| 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) | Males and Females of All Ages 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 | Adult Patients with SCD from NC and GA | 2 | WGS |
| Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank | PCGC_CHD |
Bruce Gelb Christine Seidman |
3230WGS (ph4), 308RNASeq (ph4) | Males and Females of All Ages, No Ethnic or Race Restrictions | 4 | WGS, RNASeq |
| Pharmacogenomics of Bronchodilator Response in Minority Children with Asthma | PGX_Asthma |
Esteban Burchard Ryan Hernandez |
1500 | African American (500), Puerto Rican (500), and Mexican (500) of Extremely Non-responding Asthma Patients | 1, Other Funding | WGS |
| The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease | PharmHU |
Eric Boerwinkle Betty Sue Pace Vivien Sheehan |
1454 | Pediatric Patients with Sickle Cell Anemia and History of Hydroxyurea Use | 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 |
| Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease | PUSH_SCD |
Sergei Nekhai |
450 | Aged 3-20 Years with Diagnosis of SCD | 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 |
| Taiwan Study of Hypertension using Rare Variants | THRV |
Yii-Der Ida Chen Jerome Rotter |
2585 | Taiwan Chinese families | 2 | WGS |
