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

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... (for more see dbGaP study page.)

本研究隶属于美国国家人类基因组研究所（National Human Genome Research Institute, NHGRI）的常见疾病基因组学中心（Center for Common Disease Genomics, CCDG），该中心是一项协作性大规模基因组测序项目，旨在全面识别与多种常见疾病表型相关的罕见风险与保护性变异。据当前预估，该项目在实施周期内，将完成14万名个体的全基因组测序以及22.5万名个体的全外显子组测序。该中心的心血管疾病工作组聚焦五类疾病：早发性冠状动脉疾病（early-onset coronary artery disease, EOCAD）、脑卒中、心房颤动、充血性心力衰竭以及2型糖尿病。冠状动脉疾病（coronary artery disease, CAD）是全球首要致死病因，现有常见变异关联研究表明，学界对其潜在分子机制的认知仍存在不足——例如，此前已定位的63个冠心病相关常见变异中，超过三分之二无法直接关联至已知风险因素。冠心病（CAD）是一类中年起病的常见疾病的典型代表（更多详情请参见dbGaP研究页面）