TOPMed

Parent/Study Descriptions and Statements

Notes: “phs” is a dbGaP study accession number prefix indicating a phenotype study. A study accession number is a unique, stable, and versioned identifier.
For studies with no description in the table below, click on the phs number to see the summary provided on dbGaP. In the table, you may encounter phs links that redirect to a dbGaP error page. If so, this is because the TOPMed dbGaP study webpages do not go live until the study accession is released.

The table below provides the names of institutions providing ethics approval or oversight so TOPMed authors can respond to journals that require documentation for ethics review of studies involving human subjects.

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Short Name	Title	TOPMed Accession #	Description	Ethics statement
UNID_CM	The Genetic Causes of Unexplained Cardiomyopathies	phs002382
UNID_CM PCGC_CHD	Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank	phs001735	Pediatric Cardiac Genomics Consortium (PCGC). CHD subjects were recruited to the Congenital Heart Disease Network Study of the Pediatric Cardiac Genomics Consortium (CHD GENES: ClinicalTrials.gov identifier NCT01196182). The institutional review boards of Boston's Children's Hospital, Brigham and Women's Hospital, Great Ormond Street Hospital, Children's Hospital of Los Angeles, Children's Hospital of Philadelphia, Columbia University Medical Center, Icahn School of Medicine at Mount Sinai, Rochester School of Medicine and Dentistry, Steven and Alexandra Cohen Children's Medical Center of New York, and Yale School of Medicine approved the protocols. All subjects or their parents provided informed consent. Subjects were selected for structural CHD (excluding PDA associated with prematurity, and pulmonic stenosis associated with twin-twin transfusion). Individuals with either an identified chromosomal aneuploidy or a CNV that is known to be associated with CHD were not included. For all subjects, cardiac diagnoses were obtained from review of all imaging and operative reports and entered as Fyler codes based on the International Paediatric and Congenital Cardiac Codes. All patients were evaluated at study entry using a standardized protocol consisting of an interview that includes maternal, paternal and birth history and whether the patient has been examined by a geneticist. A comprehensive review of the proband's medical record was performed that included height and weight data, along with presence or absence of a broad range of reported extracardiac malformations, the availability and results of genetic testing and the presence or absence of a clinical genetic diagnosis. For probands under age 1, specialty (other than cardiology) services obtained in the course of clinical care were documented. For probands over age 1, parents were asked if their child was diagnosed with developmental delay and whether educational supports were obtained. Each patient has a three-generation pedigree.
VAFAR	Vanderbilt Atrial Fibrillation Ablation Registry	phs000997
VU_AF	Vanderbilt Genetic Basis of Atrial Fibrillation	phs001032
walk_PHaSST	Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy	phs001514		All walk-PHaSST participants provided informed consent, and the study was approved by the Institutional Review Board of all clinical sites (Albert Einstein College of Medicine, Children’s Hospital of Oakland, Children’s Hospital Pittsburgh, Howard University Hospital, Imperial College London and Hammersmith Hospital, Johns Hopkins University, NIH Clinical Center, University of Colorado, University of Illinois at Chicago) and of the University of Pittsburgh for the walk-PHaSST Biorepository.
WGHS	Women's Genome Health Study	phs001040	The Women’s Genome Health Study is a prospective cohort for genome-wide genetic analysis derived from the Women’s Health Study that was a balanced 2x2 factorial placebo-controled trial of aspirin (100mg every other day) and vitamin E (600 IU every other day) over 10 years beginning 1992-1994 for primary prevention of CVD and cancer among 39,876 female health care professionals, 45 years old and free of known prevalent endpoint conditions at baseline. Approximately 28,346 WHS participants provided a baseline blood sample within which cardiovascular risk factors biomarkers were measured and DNA was extracted for genotyping. Demographic and lifestyle data were collected by questionnaire. Follow-up was by annual questionnaire. Since the conclusion of the trial period, the cohort has continued for observational follow-up.
WHI	Women's Health Initiative	phs001237	The Women’s Health Initiative (WHI) cohort. The WHI is a prospective national health study focused on identifying optimal strategies for preventing chronic diseases that are the major causes of death and disability in postmenopausal women [refs]. The WHI initially recruited 161,808 women between 1993 and 1997 with the goal of including a socio-demographically diverse population with racial/ethnic minority groups proportionate to the total minority population of US women aged 50-79 years. The WHI consists of two major parts: a set of randomized Clinical Trials and an Observational Study. The WHI Clinical Trials (CT; N=68,132) includes three overlapping components, each a randomized controlled comparison: the Hormone Therapy Trials (HT), Dietary Modification Trial, and Calcium and Vitamin D Trial. A parallel prospective observational study (OS; N = 93,676) examined biomarkers and risk factors associated with various chronic diseases. While the HT trials ended in the mid-2000s, active follow-up of the WHI-CT and WHI-OS cohorts has continued for over 25 years, with the accumulation of large numbers of diverse clinical outcomes, risk factor measurements, medication use, and many other types of data.	All WHI participants provided informed consent and the study was approved by the Institutional Review Board (IRB) of the Fred Hutchinson Cancer Research Center.