Next generation sequencing applications for cardiovascular disease

作者：Kalayinia Samira; Goodarzynejad Hamidreza; Maleki Majid; Mahdieh Nejat^*

来源：Annals of Medicine, 2018, 50(2): 91-109.

DOI：10.1080/07853890.2017.1392595

• Cardiomyopathies
• cardiovascular genetics
• channelopathies
• complex disease
• coronary artery disease
• next generation sequencing
• stroke

The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger's method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; therefore, nowadays it is possible to carry out both whole-genome (WGS) and whole-exome sequencing (WES) for the variations detection in patients with rare genetic diseases as well as complex disorders such as common cardiovascular diseases (CVDs). Finding new variants may contribute to establishing a risk profile for the pathology process of diseases. Here, recent applications of NGS in cardiovascular medicine are discussed; both Mendelian disorders of the cardiovascular system and complex genetic CVDs including inherited cardiomyopathy, channelopathies, stroke, coronary artery disease (CAD) and are considered. We also state some future use of NGS in clinical practice for increasing our information about the CVDs genetics and the limitations of this new technology.

• 出版日期2018