TOPMed Projects and their Parent Studies

Filter this table 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.

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.

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.

PI(s) TOPMed Project Short Namesort descending Study Name Approx Sample Size to be Sequenced Populations Phases Participating Type of Sequencing TOPMed Accession #
Sinner, Mortiz
Kaab, Stefan
AFGen AFLMU AFLMU 248 co-funded, 102 phase 2.5 + WGS phs001543
Mitchell, Braxton
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 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 120 WGS phs001435
Barnes, Kathleen
BAGS BAGS New Approaches for Empowering Studies of Asthma in Populations of African Descent - Barbados Genetics of Asthma Study 1100 African descent Barbados families with >40% of asthmatic members WGS phs001143
Loos, Ruth
Do, Ron , Loos, Ruth
Kenny, Eimear
AFGen BioMe AFGen Mount Sinai BioMe Biobank + WGS phs001644
Shoemaker, M. Benjamin
Roden, Dan
AFGen BioVU_AF BioVU_AF + WGS phs001624
Sankaran, Vijay
Boston-Brazil_SCD Boston-Brazil_SCD Boston-Brazil Collaborative Study of Sickle Cell Disease 958 WGS phs001599
Weiss, Scott
CRA_CAMP CAMP Childhood Asthma Management Program WGS phs001726
Fornage, Myriam
CARDIA CARDIA Whole Genome Sequence Analysis in Early Cerebral Small Vessel Disease 3622 WGS 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
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) African American, non-Hispanic White + WGS
Weiss, Scott
CRA_CAMP CRA The Genetic Epidemiology of Asthma in Costa Rica - Asthma in Costa Rica cohort 1300 (ph1) Costa Rica is a Special Hispanic population with asthma prevalence at 24% WGS phs000988
Mohanty, Sanghamitra
Natale, Andrea
AFGen DECAF Determining the association of chromosomal variants with non-PV triggers and ablation-outcome in DECAF WGS phs001546
Allred, Nicholette (Nichole) Palmer
Bowden, Don
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
Silverman, Edwin
COPD EOCOPD Boston Early-Onset COPD Study 100 WGS phs000946
Esko, Tonu
AFGen Estonia_AF Estonia_AF + WGS phs001606
Province, Mike
Lenzini, Petra
AA_CAC FamHS Family Heart Study WGS sequencing not planned
Ramachandran, Vasan
Cupples, L Adrienne
FHS FHS Framingham Heart Study 4089 3 generation EA pedigrees WGS phs000974
Benjamin, Emelia
Lunetta, Kathryn
AFGen FHS AFGen Framingham Heart Study 111 WGS 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 phs000920
Hakonarson, Hakon
ATGC GCPD-A Genetics of Complex Pediatric Disorders - Asthma 4000 WGS phs001661
Christophersen, Ingrid
AFGen GENAF GENAF + 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
Williams, Scott
Africa7K GHAT Ghana Arterial Thrombosis WGS
Williams, Scott
Africa7K GHAT-R Ghana Arterial Thrombosis rural WGS
Arnett, Donna K
GOLDN GOLDN Genetics of Lipid Lowering Drugs and Diet Network 967 European families WGS phs001359
Rienstra, Michiel
AFGen Groningen_AF Groningen_AF + WGS
Kaplan, Robert
North, Kari
HCHS_SOL HCHS_SOL Hispanic Community Health Study - Study of Latinos 2270 WGS phs001395
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
Schwab, Angie , Cutler, Michael
Johnson, Kevin
AFGen INSPIRE_AF INSPIRE Atrial Fibrillation + WGS phs001545
Schwartz, David
Fingerlin, Tasha
IPF IPF Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis 1500 WGS phs001607
Correa, Adolfo
Wilson, James
JHS JHS Jackson Heart Study 3500 AA mixed family and population based WGS phs000964
Nazarian, Saman
AFGen JHU_AF JHU_AF + WGS phs001598
Barwick, Lucas
LTRC LTRC Lung Tissue Research Consortium 1548DNA + 1648RNA WGS
de Andrade, Mariza
VTE Mayo_VTE Mayo_VTE 1355 WGS phs001402
Rotter, Jerome
Rich, Stephen
MESA MESA Multi-Ethnic Study of Atherosclerosis 4595 multi-ethnic populations WGS
Rotter, Jerome
AA_CAC MESAFam Multi-Ethnic Study of Atherosclerosis Family cohort WGS phs001416
Lubitz, Steven
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 phs001515
Smith, Gustav
AFGen MPP MPP + WGS phs001544
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 3230DNA + 308RNA WGS
Boerwinkle, Eric
Sheehan, Vivien
PharmHU PharmHU The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease 1454 WGS phs001466
Martinez, Fernando
ATGC PIMA Pathways to Immunologically Mediated Asthma 74 WGS phs001727
Rader, Daniel
Damraeur, Scott
AFGen PMBB_AF PennMedicine BioBank AF 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
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 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 phs000921
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
McGarvey, Stephen
SAS SAS Samoan Adiposity Study 384 (ph1) + 912 (ph2) Samoan WGS phs000972
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
Rao, D.C.
Chen, Yii-Der Ida
THRV THRV Taiwan Study of Hypertension using Rare Variants 2585 Taiwan Chinese families WGS phs001387
Taylor, Matthew
Mestroni, Luisa , Taylor, Matthew
Graw, Sharon
TOPCHeF TOPCHeF Trans-Omics for Precision Medicine for Congestive Heart Failure 1078RNA + 1078DNA WGS
Marcus, Gregory
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
WHI WHI Women's Health Intiative 11,100WGS + 1400RNA (ph4) WGS