Investigating low frequency variants in CAD/MI cases, controls and pedigrees using whole exome sequencing and custom pulldowns

The Cardiogenics re-sequencing study will consist of three parts: Eight pools of 25 individuals will be sequenced using a Nimblegen hybrid-capture solution specific to miRNA sequences, 80 pools of 25 individuals will be sequenced using a custom Agilent SureSelect array covering genes associated with coronary artery disease (CAD) and myocardial infarction (MI), 10 individuals from families with a history of CAD/MI will be exome sequenced using the Sanger exome array. The experiment will use the early onset patients from the German MI cohort and the UK BHF CAD/MI cohort both of which have strong family history. For controls we will consider individuals from the UKBS and KORA cohorts.

Cardiogenics 重测序研究将分为三个阶段：将采用 Nimblegen 特定于 miRNA 序列的杂交捕获方案对 25 人的八个样本池进行测序；利用定制化的 Agilent SureSelect 芯片组，对 25 人的 80 个样本池中与冠状动脉疾病（CAD）和心肌梗死（MI）相关的基因进行测序；此外，还将对有 CAD/MI 家族史的 10 个个体进行外显子组测序，使用 Sanger 外显子组芯片。实验将采用德国 MI 研究队列和英国 BHF CAD/MI 研究队列中的早发型患者，这两个队列均具有强烈的家族病史。对于对照组，我们将考虑来自 UKBS 和 KORA 队列的个体。