TOPMed Projects and their Parent Studies

TOPMed 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 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.

Parent studies are studies that were selected for inclusion in TOPMed to have their samples sequenced. Parent studies may be cohort (i.e. FHS, JHS, ARIC, CHS, CARDIA, and MESA), case-control (i.e. COPDGene), randomized trial (i.e. WHI), family-based (i.e. CRA), case-only (i.e. GALAII, SAGE) studies, or other designs. Before the TOPMed program was initiated, these studies had already recruited subjects and collected phenotypic data and biosamples for DNA extraction. In general, only a subset of all subjects included in the pre-existing study were selected for WGS in TOPMed. Some parent studies have contributed samples for sequencing to more than one TOPMed Project. In the Phase column, a "+" symbol indicates other sequencing funding.

Filter this list to display only TOPMed Projects or Parent Studies. You may also filter by types of sequencing, or use the tabs at the top to filter by start phase.

PI(s) TOPMed Project Short Name Study Name Approx Sample Size to be Sequenced Populations Phases Participating Type of Sequencing
Taylor, Kent
Rotter, Jerome
AA_CAC AA_CAC African American Coronary Artery Calcification project 1409 African American families WGS
Ellinor, Patrick
AFGen AFGen Identification of Common Genetic Variants for Atrial Fibrillation and PR Interval - Atrial Fibrillation Genetics Consortium 2799 AF cases all EA WGS
Tishkoff, Sarah
Africa7K Africa7K Integrative Genomic Studies of Heart and Blood Related Traits in Africans 7500DNA WGS
Mitchell, Braxton
Amish Amish Genetics of Cardiometabolic Health in the Amish 1100 Old Order Amish large extended pedigrees WGS
Burchard, Esteban
Williams, L. Keoki
ATGC ATGC Asthma Translational Genomics Collaborative 15580 WGS ph3 + 3500 RNAseq ph4 WGS
Barnes, Kathleen
BAGS BAGS Barbados Genetics of Asthma Study 1100 African descent Barbados families with >40% of asthmatic members WGS
Loos, Ruth
Kenny, Eimear , Loos, Ruth
Do, Ron
BioMe BioMe Mount Sinai BioMe Biobank 8769 CAD + 2644 COPD WGS
Sankaran, Vijay
Boston-Brazil_SCD Boston-Brazil_SCD Boston-Brazil Collaborative Study of Sickle Cell Disease 958 WGS
Fornage, Myriam
CARDIA CARDIA Whole Genome Sequence Analysis in Early Cerebral Small Vessel Disease 3622 WGS
Redline, Susan
CFS CFS Cleveland Family Study 1000 African American WGS
Psaty, Bruce
Tracy, Russell
CHS CHS Cardiovascular Health Study 3600 WGS
Silverman, Edwin
COPD COPD Genetic Epidemiology of COPD 12785 = 100 EOCOPD (ph1) + 1885 COPDGene (ph1) + 7400 (ph2) + 2400 ECLIPSE (ph3) + 1000 COPDGene (ph3) + 800 COPDGene RNASeq (ph4) + 1548 LTRC WGS (ph4) + 1648 LTRC RNASeq (ph4) 1000 EA and 900 AA of extremely severe, early-onset COPD patients vs extreme healthy smokers (phase 1) WGS
RNASeq
Weiss, Scott
CRA_CAMP CRA_CAMP The Genetic Epidemiology of Asthma in Costa Rica and the Childhood Asthma Management Program 1300 (ph1) + 5319 (ph3) Costa Rica is a Special Hispanic population with asthma prevalence at 24% WGS
Ramachandran, Vasan
Cupples, L Adrienne
FHS FHS Framingham Heart Study 4089 3 generation EA pedigrees WGS
Mathias, Rasika
GeneSTAR GeneSTAR Genetic Studies of Atherosclerosis Risk 1400 African American families, European families WGS
He, Jiang
GenSalt GenSalt Genetic Epidemiology Network of Salt Sensitivity 1860 WGS
Arnett, Donna K
GOLDN GOLDN Genetics of Lipid Lowering Drugs and Diet Network 967 European families WGS
Kaplan, Robert
North, Kari
HCHS_SOL HCHS_SOL Hispanic Community Health Study - Study of Latinos 2270 WGS
Arnett, Donna K
HyperGEN_GENOA HyperGEN_GENOA Hypertension Genetic Epidemiology Network and Genetic Epidemiology Network of Arteriopathy 3161 African American families WGS
Schwartz, David
Fingerlin, Tasha
IPF IPF Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis 1500 WGS
Correa, Adolfo
Wilson, James
JHS JHS Jackson Heart Study 3500 African American mixed family and population based WGS
Rotter, Jerome
Rich, Stephen
MESA MESA Multi-Ethnic Study of Atherosclerosis 4595 multi-ethnic populations WGS
RNASeq
Metabolomics
Proteomics
Methylomics
Konkle, Barbara
Johnsen, Jill
MLOF MLOF My Life, Our Future: Genotyping for Progress in Hemophilia 2188 (ph2) + 2959 (ph3) WGS
Ashley-Koch, Allison
Telen, Marilyn
OMG_SCD OMG_SCD Outcome Modifying Genes in Sickle Cell Disease 675 WGS
Gelb, Bruce
Seidman, Christine
PCGC_CHD PCGC_CHD Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank 3230DNA + 308RNA WGS
RNASeq
Burchard, Esteban
Hernandez, Ryan
PGX_Asthma PGX_Asthma Pharmacogenomics of Bronchodilator Response in Minority Children with Asthma 1500 500AA, 500 Puerto Rican, and 500 Mexican of extremely non-responding asthma patients. WGS
Boerwinkle, Eric
Sheehan, Vivien
PharmHU PharmHU The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease 1454 WGS
Saleheen, Danish
PROMIS PROMIS Pakistan Risk of Myocardial Infarction Study 4,211 (WGS ph4) + 3,750 (WGS ph+ TOPMed & CCDG co-funded) South Asian ancestry from Pakistan WGS
Nekhai, Sergei
PUSH_SCD PUSH_SCD Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease 450 WGS
Custer, Brian
Kelly, Shannon
REDS-III_Brazil REDS-III_Brazil Recipient Epidemiology and Donor Evaluation Study-III 2809 Brazilian WGS
Blangero, John
Curran, Joanne
SAFS SAFS San Antonio Family Studies 1142 Mexican American in SAFHS extended pedigrees WGS
Montgomery, Courtney
Sarcoidosis Sarcoidosis Genetics of Sarcoidosis in African Americans 650 African American families WGS
Meyers, Deborah A
SARP SARP Severe Asthma Research Program 1900 WGS
McGarvey, Stephen
SAS SAS Samoan Adiposity Study 384 (ph1) + 912 (ph2) Samoan WGS
Casella, James
SIT SCD SIT_SCD Silent Infarction Transfusion (SIT) Sickle Cell Disease (SCD) WGS
Meyers, Deborah A
SPIROMICS SPIROMICS SubPopulations and InteRmediate Outcome Measures In COPD Study 2981 WGS + 5253 RNAseq WGS
RNASeq
Rao, D.C.
Chen, Yii-Der Ida
THRV THRV Taiwan Study of Hypertension using Rare Variants 2585 Taiwan Chinese families WGS
Taylor, Matthew
Graw, Sharon , Taylor, Matthew
Mestroni, Luisa
TOPCHeF TOPCHeF Trans-Omics for Precision Medicine for Congestive Heart Failure 1078RNA + 1078DNA WGS
RNASeq
Boerwinkle, Eric
VTE VTE Venous Thromboembolism project 6000 WGS
Gladwin, Mark
Zhang, Yingze
walk_PHaSST walk_PHaSST Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy 597 WGS
Kooperberg, Charles
WHI WHI Women's Health Intiative 11,100WGS + 1400RNA WGS
RNASeq
CSV