TOPMed WGS and Omics Summary of Approved Projects

TOPMed WGS and Omics Summary of Approved Data
Short Name	Study/Cohort Name	PI	Populations	dbGaP ID	WGS	RNA-seq	Methylation	Metabolomics	Proteomics
AA_CAC	African American Coronary Artery Calcification project	Kent D. Taylor	African American families	phs002194	1,159
AFGen	Identification of Common Genetic Variants for Atrial Fibrillation and PR Interval - Atrial Fibrillation Genetics Consortium	Patrick Ellinor	AF cases all EA	AFGen dbGaP IDs	12,742
Africa6K	Integrative Genomic Studies of Heart and Blood Related Traits in Africans	Sarah Tishkoff		phs002194	6,392	2,934
Amish	Genetics of Cardiometabolic Health in the Amish	Braxton D. Mitchell	Old Order Amish large extended pedigrees	phs000956	1,120
ATGC	Asthma Translational Genomics Collaborative	Esteban Burchard		ATGC dbGaP IDs	16,494	9,290
BAGS	Barbados Asthma Genetics Study	Kathleen Barnes	Barbados families of African descent with >40% of asthmatic members	phs001143	1,085
BCC-PREG	The Boston-Colombia Collaborative for Adverse Pregnancy Outcomes	Kathryn J. Gray	White, Black, Asian, Hispanic, White Hispanic, AfroCaribbean, American Indians, Mixed	Please see this TOPMed Project's Parent Studies.	14,615
BioMe	Mount Sinai BioMe Biobank	Ruth J.F. Loos	African American (24%), Hispanic/Latino (35%), European (32%), Other (10%)	phs001644	11,626
Boston-Brazil_SCD	Boston-Brazil Collaborative Study of Sickle Cell Disease	Vijay G. Sankaran	Brazilian	phs001599	415
CARDIA	Whole Genome Sequence Analysis in Early Cerebral Small Vessel Disease	Myriam Fornage	African American and White Young Adults	phs001612	3,472	6,000	9,480	9,000	9,000
CFS	Cleveland Family Study	Susan Redline	African American	phs000954	1,300
CHS	Cardiovascular Health Study	Bruce Psaty	Adults From the USA Aged 65 and Older	phs001368	4,780
COPD	Genetic Epidemiology of COPD	Ed Silverman	African American (30%)	phs000951 phs000946	10,829	800	11,843	8,353
COPDMet	Plasma and BALF Metabolomics in COPDGene and SPIROMICS	Russell Bowler	Current, Former, and Never Smokers	Please see this TOPMed Project's Parent Studies.
CRA_CAMP	The Genetic Epidemiology of Asthma in Costa Rica and the Childhood Asthma Management Program	Scott Weiss	Costa Rica is a Special Hispanic Population with Asthma Prevalence at 24%	phs001726 phs000988	6,647		3,000	3,000
DS_CHD	Down Syndrome Associated Atrioventricular Septal Defects: New Omic Resources	Stephanie L. Sherman	Parent-Offspring Trios	Please see this TOPMed Project's Parent Studies.	469
ECLIPSE	Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints	Ed Silverman	Adults Aged 40-75 with at least 10 Pack-years of Smoking	phs001472	2,355
FHS	Framingham Heart Study	Joanne Murabito	Three generation European ancestry pedigrees		4,089	5,832	4,099	7,117	6,752
GEM-OSA	Genetics, Epigenetics and Metabolomics of OSA subtypes	Allan Pack	Canada and United States	Please see this TOPMed Project's Parent Studies.	3,000		3,000	3,000
GeneSTAR	Genetic Studies of Atherosclerosis Risk	Lisa Yanek	African American families, European families	phs001218	1,780
GenSalt	Genetic Epidemiology Network of Salt Sensitivity	Jiang He	Families in Rural China	phs001217	1,858
GOLDN	Genetics of Lipid Lowering Drugs and Diet Network	Donna K Arnett	European families	phs001359	965
HCHS_SOL	Hispanic Community Health Study - Study of Latinos	Robert Kaplan	Latinos with ancestry from Cuba, Dominican Republic, Mexico, Puerto Rico, Central and South Americas	phs001395	7,834	7,733	13,000	12,226
HIPS	Hemophilia Inhibitor PUPs study	Deborah Brown	Individuals with severe hemophilia A and weight >3.5 kg	phs002302	25	2,596
HLKSCD	Genetic Variation of Heart, Lung, and Kidney Disease in Sickle Cell Disease: Pre- and Post-Curative Therapies	Michael DeBaun	Adults and children from three SCD centers		1,780
HyperGEN_GENOA	Hypertension Genetic Epidemiology Network and Genetic Epidemiology Network of Arteriopathy	Donna K Arnett	African American families	phs001345 phs001293	3,153
IPF	Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis	David Schwartz	Diagnosis of IPF and Known or Presumed European Ancestry	phs001607	2,883	835
JHS	Jackson Heart Study	Laura Raffield	African American Mixed Family and Population-based	phs000964	3,418		1,659	5,266	5,266
LTRC	Lung Tissue Research Consortium	Ed Silverman	Individuals with Lung Diseases, Primarily COPD and ILD	phs001662	1,541	1,548	3,041	1,548	1,548
MDS	Genomics of Myelodysplastic Syndromes	Matthew Walter	Adults aged 18 or older	phs002360	473	145
MESA	Multi-Ethnic Study of Atherosclerosis	Jerome Rotter	Multi-Ethnic populations	phs001416	7,107	8,903	13,400	14,760	16,200
MLOF	My Life, Our Future: Genotyping for Progress in Hemophilia	Barbara Konkle	Males and Females of All Ages with Hemophilia A	phs001515	5,670	4,500
MWCCS	MACS/WIHS COMBINED COHORT STUDY
nuMoM2b-HHS	nuMoM2b-Heart Health Study	Nathan Blue	Hispanic (17%), non-Hispanic Black (14%), Asian (4%), other (5%), non-Hispanic White (60%)		4,341	600
OMG_SCD	Outcome Modifying Genes in Sickle Cell Disease	Allison Ashley-Koch	Adult Patients with SCD from NC and GA	phs001608	653
PCGC_CHD	Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank	Bruce Gelb	Males and Females of All Ages, No Ethnic or Race Restrictions	phs001735	3,888
PGX_Asthma	Pharmacogenomics of Bronchodilator Response in Minority Children with Asthma	Esteban Burchard	African American (500), Puerto Rican (500), and Mexican (500) of Extremely Non-responding Asthma Patients	phs001682	423
PharmHU	The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease	Eric Boerwinkle	Pediatric Patients with Sickle Cell Anemia and History of Hydroxyurea Use	phs001466	862	826
PROMIS	Pakistan Risk of Myocardial Infarction Study	Danish Saleheen	South Asian ancestry from Pakistan	phs001569	9,204
PUSH_SCD	Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease	Sergei Nekhai	Aged 3-20 Years with Diagnosis of SCD	phs001682	423
PVDOMICS	Pulmonary Vascular Disease Omics Analyses	Serpil Erzurum	Adults aged 18 or older	phs002358	1,137	4,388	1,800
REDS-III_Brazil	Recipient Epidemiology and Donor Evaluation Study-III	Brian Custer	Brazilian	phs001468	2,746
SAFS	San Antonio Family Studies	John Blangero	Mexican American in SAFHS extended pedigrees	phs001215	1,819
Samoan	Samoan Adiposity Study	Ryan L Minster	Samoan	phs000972	1,295
Sarcoidosis	Genetics of Sarcoidosis in African Americans	Courtney Montgomery	African American families	phs001207	1,330
SARP	Severe Asthma Research Program	Deborah A Meyers	African American (29%), Hispanic (4%), non-Hispanic whites (60%), other (7%)	phs001446	1,890
SCVI	Stanford Cardiovascular Institute iPSC Biobank Study	Joseph Wu	African American, Asian, Hispanic, and Caucasian	phs002338	1,163	82
SIT_SCD	Silent Infarction Transfusion (SIT) Sickle Cell Disease (SCD)	James Casella
SPIROMICS	SubPopulations and InteRmediate Outcome Measures In COPD Study	Deborah A Meyers	Adults aged 40-80 years at baseline	phs001927	2,711	3,980		3,417
THRV	Taiwan Study of Hypertension using Rare Variants	Yii-Der Ida Chen	Taiwan Chinese families		2,170
TOPCHeF	Trans-Omics for Precision Medicine for Congestive Heart Failure	Matthew Taylor	Multi-ancestry	phs002038	839	776
UNID_CM	The Genetic Causes of Unexplained Cardiomyopathies	Jonathan Seidman	All ages, newborn to adults		779
VTE	Venous Thromboembolism project	Eric Boerwinkle		phs001211 phs001402 phs000993	10,531	6,111	16,524	16,524
walk_PHaSST	Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy	Victor Gordeuk	Male or Female Aged 12-70 Years with SCD Diagnosis	phs001514	437
WHI	Women's Health Initiative	Charles Kooperberg	Women aged 50-79 years	phs001237	11,310	2,365	4,400	4,400	1,000