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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.

Title Short Name Investigator(s) Approx. Sample Size Populations Phases Involved Type of Omics
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 Rural Chinese families 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


Mary Eapen


Mitch Weiss


Jeremie Estepp


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 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 disease 4, 5, 8 WGS, RNASeq, Proteomics, Methylomics
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