3 documents found, page 1 of 1
Medically actionable secondary findings from whole-exome sequencing (WES) data ...
Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venâncio, Margarida; Sequeiros, Jorge; Freixo, João ParentePublisher Copyright: © 2025 by the authors.; The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-causing variants in genes, related to life-threatening and clinically actionable diseases. Clarifying the allelic frequencies of such ...
The contribution of genetics to the understanding and management of cardiomyopa...
Cardoso, Isabel; Melo, Mafalda; Brás, Pedro; Viegas, José Miguel; Almeida, Inês; Nunes, Sofia; Custódio, Inês; Trigo, Conceição; Laranjo, SergioPublisher Copyright: © 2025 Sociedade Portuguesa de Cardiologia; Cardiomyopathies may present as a manifestation of various inherited syndromes. Recognizing the rarity and diagnostic challenges of syndromic and metabolic cardiomyopathies is crucial, as their identification holds significant implications for targeted treatment and enables the use of specific risk stratification tools. Genetics has assumed a pivo...
The contribution of genetics to the understanding and management of cardiomyopa...
Cardoso, Isabel; Nunes, Sofia; Brás, Pedro; Viegas, José Miguel; Marques Antunes, Miguel; Ferreira, André; Almeida, Inês; Custódio, InêsPublisher Copyright: © 2025; Genetics has assumed a pivotal role in clarifying the pathophysiology of cardiomyopathies, facilitating molecular diagnosis, and enabling effective family screening. The advent of next-generation sequencing has revolutionized genetic testing by enabling cost-effective, high-throughput analysis. It is imperative for cardiovascular physicians to mainstream genetic testing into their c...