Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

BACKGROUND: Diagnostic testing for genetic cardiomyopathies has undergone dramatic changes in the last decade with next generation sequencing (NGS) expanding the number of genes that can be interrogated simultaneously. Exon resolution copy number analysis is increasingly incorporated into routine di...

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Detalles Bibliográficos
Autores principales: Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799872/
https://www.ncbi.nlm.nih.gov/pubmed/27066507
http://dx.doi.org/10.1002/mgg3.187

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799872/
https://www.ncbi.nlm.nih.gov/pubmed/27066507
http://dx.doi.org/10.1002/mgg3.187

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