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Updated: May 28, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The Role of Next-Generation Sequencing in Cardiovascular Disease: A New Era of Precision Cardiology
Konstantinos Agiannitopoulos1, Anastasios Papageorgiou2,3, Elisavet Kouvidi4
1Division of Genetics & Biotechnology, Department of Biology, National and Kapodistrian University of Athens, 15772 Athens, Greece.
Abstract:
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.
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