Review
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World J Cardiol. Oct 26, 2012; 4(10): 288-295
Published online Oct 26, 2012. doi: 10.4330/wjc.v4.i10.288
Next generation sequencing in cardiovascular diseases
Francesca Faita, Cecilia Vecoli, Ilenia Foffa, Maria Grazia Andreassi
Francesca Faita, Cecilia Vecoli, Ilenia Foffa, Maria Grazia Andreassi, CNR, Institute of Clinical Physiology, 54100 Massa, Italy
Author contributions: Faita F revised the literature, organized the different sections of the paper, and helped to draft the manuscript; Vecoli C revised the literature, organized the different sections of the paper and drafted the manuscript; Foffa I revised the manuscript; Andreassi MG revised the literature, organized the different sections of the paper and critically revised the manuscript; and all authors read and approved the final manuscript.
Correspondence to: Dr. Cecilia Vecoli, CNR, Institute of Clinical Physiology, via Aurelia Sud, 54100 Massa, Italy. vecoli@ifc.cnr.it
Telephone: +39-585-493693 Fax: +39-585-493501
Received: March 13, 2012
Revised: September 8, 2012
Accepted: September 15, 2012
Published online: October 26, 2012
Abstract

In the last few years, the advent of next generation sequencing (NGS) has revolutionized the approach to genetic studies, making whole-genome sequencing a possible way of obtaining global genomic information. NGS has very recently been shown to be successful in identifying novel causative mutations of rare or common Mendelian disorders. At the present time, it is expected that NGS will be increasingly important in the study of inherited and complex cardiovascular diseases (CVDs). However, the NGS approach to the genetics of CVDs represents a territory which has not been widely investigated. The identification of rare and frequent genetic variants can be very important in clinical practice to detect pathogenic mutations or to establish a profile of risk for the development of pathology. The purpose of this paper is to discuss the recent application of NGS in the study of several CVDs such as inherited cardiomyopathies, channelopathies, coronary artery disease and aortic aneurysm. We also discuss the future utility and challenges related to NGS in studying the genetic basis of CVDs in order to improve diagnosis, prevention, and treatment.

Keywords: Next generation sequencing; Genetics of cardiovascular diseases; Cardiomyopathies; Coronary artery disease; Complex disease