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Updated: Dec 6, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Recommendations for genetic testing in cardiology: Review of major international guidelines
Alexandra Sousa1, Oana Moldovan2, Ana Lebreiro3
1Departamento de Medicina, Faculdade de Medicina, Universidade do Porto, Porto, Portugal; CINTESIS, Cardiocare - Centro de Investigação em Tecnologias e Serviços de Saúde, Porto, Portugal; Serviço de Cardiologia, Hospital de Santa Maria Maior, Barcelos, Portugal.
Abstract:
In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.
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