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.
Is your study missing a description? Contact the TOPMed ACC.
| Short Name | Title | TOPMed Accession # | Description | Ethics statement |
|---|---|---|---|---|
| OMG_SCD | Outcome Modifying Genes in Sickle Cell Disease | phs001608 | All OMG-SCD participants provided informed consent, and the study was approved by the Institutional Review Board of Duke University. | |
| Partners | Partners Healthcare Biorepository | phs001024 | ||
| 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. | |
| PCGC_DS_CHD | Down Syndrome Associated Atrioventricular Septal Defects: New Omic Resources | phs001735 | ||
| PharmHU | The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease | phs001466 | ||
| PHBI | Pulmonary Hypertension Breakthrough Initiative | phs002358 | ||
| PIMA | Pathways to Immunologically Mediated Asthma | phs001727 | ||
| PMBB_AF | Early-onset Atrial Fibrillation in the Penn Medicine BioBank Cohort | phs001601 | ||
| PROMIS | Pakistan Risk of Myocardial Infarction Study | phs001569 | ||
| PUSH_SCD | Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease | phs001682 |
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