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 |
|---|---|---|---|---|---|---|
| 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 |
