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