Next generation sequencing in cardiovascular diseases

Figure 1 Basic principles of next generation sequencing. A whole genome or a targeted region of the genome are randomly digested into small fragments and then sequenced. The sequence obtained is subsequently aligned to a reference genome or de novo assembled.

Figure 2 Genetic contribution to monogenic and multigenic cardiovascular diseases and their study approach. The monogenic diseases are caused by a rare mutation in a specific gene and are very rare (< 10 individuals). In the complex diseases, many common genetic variants occur and have a major frequency in the population (> 100 000). The study approach for monogenic diseases is a genome wide linkage study in which one single mutation is identified. Conversely, for complex diseases the genome wide association study is very important to identify a series of common variants contributing to the etiology of the disease. Target re-sequencing by next generation sequencing is an approach which permits the study of both monogenic and complex diseases.