Next-generation sequencing transforms cardiovascular genetics by enabling comprehensive assessments of genetic variations, informing molecular diagnosis, risk prediction, and precision therapeutics.
Cardiovascular diseases (CVDs) are the foremost contributor to global mortality, with a significant inherited factor that has long been recognized but only recently become decipherable. Next-generation sequencing (NGS) has transformed the study of cardiovascular genetics, allowing researchers to move beyond single-gene analyses toward comprehensive assessments of both rare and common genetic variations. This review summarizes how NGS informs clinical practice, from the molecular diagnosis of inherited cardiac disorders and risk prediction using polygenic models to emerging applications in precision therapeutics. It also discusses analytical and ethical challenges and highlights new technologies, such as long-read and single-cell sequencing, that are likely to further advance precision cardiology.
Αγιαννιτόπουλος et al. (Sun,) conducted a review in Cardiovascular diseases. Next-generation sequencing (NGS) was evaluated. Next-generation sequencing transforms cardiovascular genetics by enabling comprehensive assessments of genetic variations, informing molecular diagnosis, risk prediction, and precision therapeutics.