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