[Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies].
Inherited cardiomyopathy is the most common hereditary cardiac disease. It also causes a significant proportion of sudden cardiac deaths in young adults and athletes. So far, approximately one hundred genes have been reported to be involved in cardiomyopathies through different mechanisms. Therefore, the identification of the genetic basis and disease mechanisms of cardiomyopathies are important for establishing a clinical diagnosis and genetic testing. Next-generation semiconductor sequencing (NGSS) technology platform is a high-throughput sequencer capable of analyzing clinically derived genomes with high productivity, sensitivity and specificity. It was launched in 2010 by Life Technologies of USA, and it is based on a high density semiconductor chip, which was covered with tens of thousands of wells. NGSS has been successfully used in candidate gene mutation screening to identify hereditary disease. In this review, we summarize these genetic variations, challenge and application of NGSS in inherited cardiomyopathy, and its value in disease diagnosis, prevention and treatment.
1. Faculty of Life Science and Technology, Engineering Research Center of Molecular Medicine in Yunnan Province, Kunming University of Science and Technology, Kunming 650500, China; 2. Department of Cardiology, First People's Hospital of Yunnan Province, Kunming 650032, China;
Yue
Y
Zhao
Department of Cardiology, First People's Hospital of Yunnan Province, Kunming 650032, China.
Hong
H
Zhang
Faculty of Life Science and Technology, Engineering Research Center of Molecular Medicine in Yunnan Province, Kunming University of Science and Technology, Kunming 650500, China.
Xue-shan
XS
Xia
D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans