TOPMed Projects and their Parent Studies
Filter this table to display only TOPMed Projects or Parent Studies (see definitions of both). You may also filter by types of sequencing, or use the tabs at the top to filter by start phase.
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 freeze4 and freeze5b.
+ denotes Other Sequencing Funding
PI | TOPMed Project |
Short Name![]() |
Study Name | Approx. Sample Size | Populations | Phases Involved | Type of Omics | TOPMed Accession # |
---|---|---|---|---|---|---|---|---|
Sinner, Mortiz ; Kaab, Stefan |
AFGen | AFLMU | Atrial Fibrillation Biobank Ludwig Maximilian University Study | 248 co-funded, 102 phase 2.5 |
|
WGS | phs001543 | |
Tishkoff, Sarah ; Williams, Scott |
Africa6K | Africa6K | Integrative Genomic Studies of Heart and Blood Related Traits in Africans |
|
WGS | phs002194 | ||
Mitchell, Braxton D. ; |
Amish | Amish | Genetics of Cardiometabolic Health in the Amish | 1100 | Old Order Amish large extended pedigrees |
|
WGS | phs000956 |
Boerwinkle, Eric ; |
VTE | ARIC | Atherosclerosis Risk in Communities Study VTE cohort | 3937 |
|
WGS, Methylomics | phs001211 | |
Alonso, Alvaro ; Arking, Dan |
AFGen | ARIC AFGen | Atherosclerosis Risk in Communities Study | 84 |
|
WGS | phs001211 | |
Fatkin, Diane ; |
AFGen | AustralianFamilialAF | Molecular Mechanisms of Inherited Cardiomyopathies and Arrhythmias in the Australian Familial AF Study | 120 |
|
WGS | phs001435 | |
Barnes, Kathleen ; |
BAGS | BAGS | New Approaches for Empowering Studies of Asthma in Populations of African Descent - Barbados Asthma Genetics Study | 1100 | African descent Barbados families with >40% of asthmatic members |
|
WGS | phs001143 |
Gray, Kathryn J. ; Casas Romero, Juan P |
BCC-PREG | BCC-PREG | The Boston-Colombia Collaborative for Adverse Pregnancy Outcomes |
|
WGS | |||
Loos, Ruth J.F. ; Kenny, Eimear |
AFGen | BioMe AFGen | Mount Sinai BioMe Biobank |
|
WGS | phs001644 | ||
Shoemaker, M. Benjamin ; Roden, Dan |
AFGen | BioVU_AF | The Vanderbilt University BioVU Atrial Fibrillation Genetics Study |
|
WGS | phs001624 | ||
Sankaran, Vijay G. ; |
Boston-Brazil_SCD | Boston-Brazil_SCD | Boston-Brazil Collaborative Study of Sickle Cell Disease | 958 |
|
WGS | phs001599 | |
Weiss, Scott T ; |
CRA_CAMP | CAMP | Childhood Asthma Management Program | ???WGS (ph3), 1700Metab (ph5), 1700Methyl (ph5) |
|
WGS, Metabolomics, Methylomics | phs001726 | |
Fornage, Myriam ; Hou, Lifang ; Lloyd-Jones, Donald |
CARDIA | CARDIA | Coronary Artery Risk Development in Young Adults | 3622WGS (ph3), 9480Methyl (ph5) |
|
WGS, Methylomics | phs001612 | |
Martinez, Fernando ; |
ATGC | CARE_BADGER | Childhood Asthma Research and Education Network: Best Add-on Therapy Giving Effective Responses |
|
WGS | phs001728 | ||
Martinez, Fernando ; |
ATGC | CARE_CLIC | Childhood Asthma Research and Education Network: Characterizing the Response to a Leuikotriene Receptor Agonis and an Inhaled Corticosteroid | 219 |
|
WGS | phs001729 | |
Martinez, Fernando ; |
ATGC | CARE_PACT | Childhood Asthma Research and Education Network: Pediatric Asthma Controller Trial |
|
WGS | phs001730 | ||
Martinez, Fernando ; |
ATGC | CARE_TREXA | Childhood Asthma Research and Education Network: Treating Children to Prevent Exacerbations of Asthma |
|
WGS | phs001732 | ||
Kraus , William ; Sun, Albert |
AFGen | CATHGEN | The Duke CATHeterization GENetics Study |
|
WGS | phs001600 | ||
Chung, Mina ; Barnard, John |
AFGen | CCAF | Cleveland Clinic Atrial Fibrillation Study | 365 |
|
WGS | phs001189 | |
Redline, Susan ; |
CFS | CFS | Cleveland Family Study - WGS Collaboration | 1000 | African American |
|
WGS | phs000954 |
Gilliland, Frank ; |
ATGC | ChildrensHS_GAP | Children's Health Study: Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma |
|
WGS | phs001602 | ||
Gilliland, Frank ; |
ATGC | ChildrensHS_IGERA | Children's Health Study: Integrative Genomics and Environmental Research of Asthma | 231 |
|
WGS | phs001603 | |
Gilliland, Frank ; |
ATGC | ChildrensHS_MetaAir | Children's Health Study: Effects of Air Pollution on the Development of Obesity in Children |
|
WGS | phs001604 | ||
Kumar, Rajesh ; |
ATGC | CHIRAH | Genetics Sub-Study of Chicago Initiative to Raise Asthma Health Equity | 318 |
|
WGS | phs001605 | |
Psaty, Bruce ; Tracy, Russell |
CHS | CHS | Cardiovascular Health Study | 3600 |
|
WGS | phs001368 | |
Heckbert, Susan ; |
VTE | CHS VTE | Cardiovascular Health Study | 71 |
|
WGS | phs001368 | |
Silverman, Edwin ; |
COPD | COPDGene | Genetic Epidemiology of COPD Study | 1885 (ph1), 7400 (ph2), 1000 (ph3), 800RNA (ph4), 11,500Methyl (ph5) | African American, non-Hispanic White |
|
WGS, RNASeq, Methylomics | phs000951 |
Silverman, Edwin ; |
COPDMet | COPDGene COPDMet | Genetic Epidemiology of COPD Study |
|
Metabolomics | phs000951 | ||
Weiss, Scott T ; |
CRA_CAMP | CRA | The Genetic Epidemiology of Asthma in Costa Rica - Asthma in Costa Rica cohort | 1300WGS (ph1), 1300Metab (ph5), 1300Methyl (ph5) | Costa Rica is a Special Hispanic population with asthma prevalence at 24% |
|
WGS, Metabolomics, Methylomics | phs000988 |
Carrier, Julie ; |
GEM-OSA | CSCN-OSA | Canadian Sleep and Circadian Network - Obstructive Sleep Apnea Project |
|
WGS, Metabolomics, Methylomics | |||
Mohanty, Sanghamitra ; Natale, Andrea |
AFGen | DECAF | Determining the association of chromosomal variants with non-PV triggers and ablation-outcome in DECAF |
|
WGS | phs001546 | ||
Palmer, Nicholette ; Bowden, Donald W. |
AA_CAC | DHS | Diabetes Heart Study |
|
WGS | phs001412 | ||
Silverman, Edwin ; |
ECLIPSE | ECLIPSE | Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points | 2400 (ph3) |
|
WGS | phs001472 | |
Esko, Tonu ; |
AFGen | EGCUT | Estonian Genome Center | 2900WGS |
|
WGS | phs001606 | |
Silverman, Edwin ; |
COPD | EOCOPD | Boston Early-Onset COPD Study | 100 |
|
WGS | phs000946 | |
Province, Mike ; Lenzini, Petra |
AA_CAC | FamHS | Family Heart Study |
|
WGS | sequencing not planned | ||
Ramachandran, Vasan S. ; Cupples, L. Adrienne ; Levy, Dan |
FHS | FHS | Framingham Heart Study | 4089WGS (ph1), 1861RNASeq (ph5), 3400Metab (ph5), 1900Methyl (ph5) | 3 generation EA pedigrees |
|
WGS, RNASeq, Metabolomics, Proteomics, Methylomics | phs000974 |
Benjamin, Emelia ; Lunetta, Kathryn |
AFGen | FHS AFGen | Framingham Heart Study | 111 |
|
WGS, RNASeq, Metabolomics, Proteomics, Methylomics | phs000974 | |
Burchard, Esteban ; |
ATGC | GALAI | ATGC Gene-Environment, Admixture and Latino Asthmatics Study I Asthma | Mexican/Other Latino 465, Puerto Rican 620 |
|
WGS | phs001542 | |
Burchard, Esteban ; |
PGX_Asthma | GALAII | Gene-Environment, Admixture and Latino Asthmatics Study | 994 | Latino |
|
WGS | phs000920 |
Burchard, Esteban ; |
ATGC | GALAII ATGC | ATGC Gene-Environment, Admixture and Latino Asthmatics Study II Asthma | Mexican/Other Latino 2383, Puerto Rican 2519 |
|
WGS, RNASeq | phs000920 | |
Hakonarson, Hakon ; |
ATGC | GCPD-A | Genetics of Complex Pediatric Disorders - Asthma | 4000 |
|
WGS | phs001661 | |
Christophersen, Ingrid Elisabeth ; |
AFGen | GENAF | The GENetics in Atrial Fibrillation Study |
|
WGS | phs001547 | ||
Mathias, Rasika ; |
GeneSTAR | GeneSTAR | Genetic Studies of Atherosclerosis Risk | 1400 | African American families, European families |
|
WGS | phs001218 |
Mathias, Rasika ; |
AA_CAC | GeneSTAR AA_CAC | Genetic Studies of Atherosclerosis Risk | African American families, European families |
|
WGS | phs001218 | |
Kardia, Sharon ; Smith, Jennifer |
HyperGEN_GENOA | GENOA | Genetic Epidemiology Network of Arteriopathy | African American families |
|
WGS | phs001345 | |
Peyser, Patricia ; Bielak, Larry |
AA_CAC | GENOA AA_CAC | Genetic Epidemiology Network of Arteriopathy |
|
WGS | phs001345 | ||
He, Jiang ; |
GenSalt | GenSalt | Genetic Epidemiology Network of Salt Sensitivity | 1860 |
|
WGS | phs001217 | |
Rienstra, Michiel ; |
AFGen | GGAF | Groningen Genetics of Atrial Fibrillation Study |
|
WGS | phs001725 | ||
Arnett, Donna K ; |
GOLDN | GOLDN | Genetics of Lipid Lowering Drugs and Diet Network | 967 | European families |
|
WGS | phs001359 |
Kaplan, Robert ; North, Kari |
HCHS_SOL | HCHS_SOL | Hispanic Community Health Study - Study of Latinos | 2270 |
|
WGS | phs001395 | |
Brown, Deborah ; |
HIPS | HIPS | Hemophilia Inhibitor PUPs study |
|
WGS, RNASeq | |||
DeBaun, Michael ; Eapen, Mary ; Kang, Guolian ; Edwards, Todd ; Weiss, Mitch ; Estepp, Jeremie ; Gordeuk, Victor ; Li, Bingshan ; Saraf, Santosh |
HLKSCD | HLKSCD | Genetic Variation of Heart, Lung, and Kidney Disease in Sickle Cell Disease: Pre- and Post-Curative Therapies |
|
WGS | |||
Heckbert, Susan ; |
AFGen | HVH | Heart and Vascular Health Study | 79 |
|
WGS | phs000993 | |
Smith, Nicholas ; |
VTE | HVH VTE | Heart and Vascular Health Study | 637 |
|
WGS | phs000993 | |
Arnett, Donna K ; |
HyperGEN_GENOA | HyperGEN | Hypertension Genetic Epidemiology Network | African American families |
|
WGS | phs001293 | |
Cutler, Michael ; Knight, Stacey |
AFGen | INSPIRE_AF | Intermountain Heart Study |
|
WGS | phs001545 | ||
Schwartz, David ; Fingerlin, Tasha |
IPF | IPF | Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis | 1500 |
|
WGS | phs001607 | |
Correa, Adolfo ; Raffield, Laura |
JHS | JHS | Jackson Heart Study | 3500 | AA mixed family and population based |
|
WGS | phs000964 |
Nazarian, Saman ; |
AFGen | JHU_AF | The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study |
|
WGS | phs001598 | ||
Silverman, Edwin ; |
LTRC | LTRC | Lung Tissue Research Consortium | 1548WGS (ph4), 1648RNASeq (ph4), 3196Methyl (ph5) |
|
WGS, RNASeq, Methylomics | phs001662 | |
de Andrade, Mariza ; |
VTE | Mayo_VTE | Mayo Clinic Venous Thromboembolism Study | 1355 |
|
WGS | phs001402 | |
Walter, Matthew ; |
MDS | MDS | Genomics of Myelodysplastic Syndromes |
|
WGS, RNASeq | |||
Rotter, Jerome ; Rich, Stephen |
MESA | MESA | Multi-Ethnic Study of Atherosclerosis | 4595 | multi-ethnic populations |
|
WGS, RNASeq, Metabolomics, Proteomics, Methylomics | phs001416 |
Rotter, Jerome ; |
AA_CAC | MESA AA_CAC | Multi-Ethnic Study of Atherosclerosis Family cohort |
|
WGS | phs001416 | ||
Ellinor, Patrick ; |
AFGen | MGH_AF | Massachusetts General Hospital Atrial Fibrillation Study | 688 |
|
WGS | phs001062 | |
McManus, David ; |
AFGen | miRhythm | Defining time-dependent genetic and transcriptomic responses to cardiac injury among patients with arrhythmias |
|
WGS | phs001434 | ||
Konkle, Barbara ; Johnsen, Jill |
MLOF | MLOF | My Life, Our Future: Genotyping for Progress in Hemophilia | 2188 (ph2), 2959 (ph3) |
|
WGS, RNASeq | phs001515 | |
Smith, Gustav ; |
AFGen | MPP | Malmo Preventative Project | 250WGS (ph5) |
|
WGS | phs001544 | |
Haas, David M. ; Parker, Cora |
nuMoM2b-HHS | nuMoM2b-HHS | nuMoM2b-Heart Health Study |
|
WGS | |||
Ashley-Koch, Allison ; Telen, Marilyn |
OMG_SCD | OMG_SCD | Outcome Modifying Genes in Sickle Cell Disease | 675 |
|
WGS | phs001608 | |
Lubitz, Steven ; |
AFGen | Partners | Partners Healthcare Biorepository | 128 |
|
WGS | phs001024 | |
Gelb, Bruce ; Seidman, Christine |
PCGC_CHD | PCGC_CHD | Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank | 3230WGS (ph4), 308RNASeq (ph4) |
|
WGS, RNASeq | phs001735 | |
Sherman, Stephanie L. ; |
DS_CHD | PCGC_DS_CHD | Down Syndrome Associated Atrioventricular Septal Defects: New Omic Resources | 471WGS (ph5.5) |
|
WGS | ||
Boerwinkle, Eric ; Pace, Betty Sue ; Sheehan, Vivien |
PharmHU | PharmHU | The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease | 1454 |
|
WGS, RNASeq | phs001466 | |
; |
PVDOMICS | PHBI | Pulmonary Hypertension Breakthrough Initiative | |||||
Martinez, Fernando ; |
ATGC | PIMA | Pathways to Immunologically Mediated Asthma | 74 |
|
WGS | phs001727 | |
Rader, Daniel ; Damrauer, Scott |
AFGen | PMBB_AF | Early-onset Atrial Fibrillation in the Penn Medicine BioBank Cohort |
|
WGS | phs001601 | ||
Saleheen, Danish ; |
PROMIS | PROMIS | Pakistan Risk of Myocardial Infarction Study | 4,211 (WGS ph4), 3,750 (WGS ph+ TOPMed & CCDG co-funded) |
|
WGS | phs001569 | |
Nekhai, Sergei ; |
PUSH_SCD | PUSH_SCD | Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease | 450 |
|
WGS | phs001682 | |
Erzurum, Serpil ; Barnard, John ; Geraci, Mark ; Beck, Gerald ; Comhair, Suzy |
PVDOMICS | PVDOMICS | Pulmonary Vascular Disease Omics Analyses |
|
WGS, RNASeq, Methylomics | |||
Custer, Brian ; Kelly, Shannon |
REDS-III_Brazil | REDS-III_Brazil | Recipient Epidemiology and Donor Evaluation Study-III | 2809 | Brazilian |
|
WGS | phs001468 |
Blangero, John ; Curran, Joanne |
SAFS | SAFS | Whole Genome Sequencing to Identify Causal Genetic Variants Influencing CVD Risk - San Antonio Family Studies | 1142 | Mexican American in SAFHS extended pedigrees |
|
WGS | phs001215 |
Burchard, Esteban ; |
PGX_Asthma | SAGE | Study of African Americans, Asthma, Genes and Environment | 490 | African American |
|
WGS | phs000921 |
Burchard, Esteban ; |
ATGC | SAGE ATGC | ATGC Study of African Americans, Asthma, Genes and Environment | 2270 |
|
WGS, RNASeq | phs000921 | |
McGarvey, Stephen ; |
Samoan | Samoan | Samoan Adiposity Study | 384 (ph1), 912 (ph2) | Samoan |
|
WGS | phs000972 |
Williams, L. Keoki ; |
ATGC | SAPPHIRE_asthma | Study of Asthma Phenotypes & Pharmacogenomic Interactions by Race-Ethnicity | African American 4696, Mexican/Other Latino 236 |
|
WGS | phs001467 | |
Montgomery, Courtney ; |
Sarcoidosis | Sarcoidosis | Genetics of Sarcoidosis in African Americans | 650 | African American families |
|
WGS | phs001207 |
Meyers, Deborah A ; |
SARP | SARP | Severe Asthma Research Program | 1900 |
|
WGS | phs001446 | |
Wu, Joseph ; Bustamante, Carlos |
SCVI | SCVI | Stanford Cardiovascular Institute iPSC Biobank Study | 1500WGS, 450RNAseq |
|
WGS, RNASeq | ||
Casella, James ; |
SIT_SCD | SIT_SCD | Silent Infarction Transfusion (SIT) Sickle Cell Disease (SCD) |
|
WGS | sequencing not planned | ||
Meyers, Deborah A ; |
SPIROMICS | SPIROMICS | SubPopulations and InteRmediate Outcome Measures In COPD Study | 2981 WGS, 5253 RNAseq |
|
WGS, RNASeq | phs001927 | |
Meyers, Deborah A ; |
COPDMet | SPIROMICS COPDMet | SubPopulations and InteRmediate Outcome Measures In COPD Study |
|
Metabolomics | phs001927 | ||
Rotter, Jerome ; Chen, Yii-Der Ida |
THRV | THRV | Taiwan Study of Hypertension using Rare Variants | 2585 | Taiwan Chinese families |
|
WGS | phs001387 |
Taylor, Matthew ; Mestroni, Luisa ; Graw, Sharon |
TOPCHeF | TOPCHeF | Trans-Omics for Precision Medicine for Congestive Heart Failure | 1078RNASeq, 1078WGS |
|
WGS, RNASeq | phs002038 | |
Marcus, Gregory ; |
AFGen | UCSF_AF | UCSF_AF |
|
WGS | phs001933 | ||
Seidman, Jonathan ; Seidman, Christine |
UNID_CM | UNID_CM | The Genetic Causes of Unexplained Cardiomyopathies | 1050WGS, 400RNAseq |
|
WGS, RNASeq | ||
Shoemaker, M. Benjamin ; |
AFGen | VAFAR | Vanderbilt Atrial Fibrillation Ablation Registry | 122 |
|
WGS | phs000997 | |
Darbar, Dawood ; |
AFGen | VU_AF | Vanderbilt Genetic Basis of Atrial Fibrillation | 1157 |
|
WGS | phs001032 | |
Gladwin, Mark ; Zhang, Yingze |
walk_PHaSST | walk_PHaSST | Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy | 597 |
|
WGS | phs001514 | |
Albert, Christine ; Chasman, Daniel |
AFGen | WGHS | Women's Genome Health Study | 118 |
|
WGS | phs001040 | |
Kooperberg, Charles ; Reiner, Alex |
WHI | WHI | Women's Health Initiative | 11,100WGS, 1400RNA (ph4), 1400Metab (ph5), 1400Methyl (ph5) |
|
WGS, RNASeq, Metabolomics, Proteomics, Methylomics | phs001237 |