The Role of Next-Generation Sequencing in Cardiovascular Disease: A New Era of Precision Cardiology

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Authors: Konstantinos Agiannitopoulos, Anastasios Papageorgiou, Elisavet Kouvidi, Eleni Kalampoka, Anna Papadopoulou, ANASTASSIOS PHILIPPOU, Stavroula Papadodima, Lubomir L. Traikov, Dimitrios C. Angouras
Cited by: 1
References: 104

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.

Fields of Study & Subjects

Genomics and Rare Diseases Congenital heart defects research Cardiomyopathy and Myosin Studies

Publication details

Journal / source
Life
Publisher
MDPI AG
Volume
16
Issue
5
Pages
796–796
Publication date
10 May 2026
Language
EN