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Center Common Disease Genomics [CCDG] - Cardiovascular: Partners Biobank

CCDGphs002018.v1.p1dbGapdbGap FHIR

Description

This study is a part of NHGRI's Center for Common Disease Genomics, a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. Current estimates anticipate that the CCDG program will perform whole genome sequencing of 140K individuals and whole exome sequencing of 225K individuals over the course of the project.

The Cardiovascular Disease working group of the CCDG considered five diseases: early-onset coronary artery disease (EOCAD), stroke, atrial fibrillation, congestive heart failure and type 2 diabetes. CAD is the leading cause of death in the world and common variant association studies show that our understanding of the underlying molecular mechanisms is incomplete (e.g, >2/3 of the 63 common variants previously mapped for CAD do not directly relate to known risk factors). CAD is representative of a class of common diseases with onset at middle age. When CAD occurs early in life, there is a stronger inherited component. In addition, there is empirical evidence that a burden of rare coding alleles in individual genes contribute to risk for CAD. Source: https://ccdg.rutgers.edu/sites/default/files/CCDG_CVD_EOCAD_STROKE_FINAL.pdf

For this study, The Broad Institute of MIT and Harvard generated genetic data for ~13,500 individuals from the Partners Biobank, including using whole exome sequencing and whole genome genotyping (Infinium Global Screening Array), with 550 samples from patients with myocardial infarction, a type of EOCAD. Partners Biobank, launched in 2010, is a biobank composed of samples from Partners hospitals, including Massachusetts General Hospital and Brigham and Women's Hospital. The Biobank has enrolled >100K individuals to study how genes, lifestyle, and other factors affect people's health and contribute to disease.

Stats

2Cohorts
26,484Samples
26,509Participants
16.36 TBSize

Summary

Consent Codesnot applicable, HMB
Diseasesmyocardial infarction
AccessConsortium Access, Controlled Access
Study DesignCase-Control
Data TypesExome

Terra Workspaces

This study has been divided into the following workspaces by consent codes and optionally the originating laboratory.

Terra Workspace NameConsent CodeDiseaseAccessStudy DesignData TypeSamplesParticipantsSize (TB)
AnVIL_CCDG_Broad_CVD_EOCAD_PartnersBiobank_HMB_Arraysnot applicable--Case-Control--13,15213,1533.46
AnVIL_CCDG_Broad_CVD_EOCAD_PartnersBiobank_HMB_WESHMBmyocardial infarctionCase-ControlExome13,33213,35612.90