Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

PURPOSE: Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has catalyzed routine testing of additional genes of dubious HCM-causing potential. We used 19 years of genetic testing results to de...

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Detalles Bibliográficos
Autores principales: Mazzarotto, Francesco, Girolami, Francesca, Boschi, Beatrice, Barlocco, Fausto, Tomberli, Alessia, Baldini, Katia, Coppini, Raffaele, Tanini, Ilaria, Bardi, Sara, Contini, Elisa, Cecchi, Franco, Pelo, Elisabetta, Cook, Stuart A., Cerbai, Elisabetta, Poggesi, Corrado, Torricelli, Francesca, Walsh, Roddy, Olivotto, Iacopo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752309/
https://www.ncbi.nlm.nih.gov/pubmed/29875424
http://dx.doi.org/10.1038/s41436-018-0046-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752309/
https://www.ncbi.nlm.nih.gov/pubmed/29875424
http://dx.doi.org/10.1038/s41436-018-0046-0

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