Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

PURPOSE: We evaluated whole-genome sequencing (WGS) as an alternative to multi-gene panel sequencing (PS) for genetic testing in dilated cardiomyopathy (DCM). METHODS: Forty-two patients with familial DCM underwent PS and WGS, and detection rates of rare single nucleotide variants and small insertio...

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Detalles Bibliográficos
Autores principales: Minoche, Andre E., Horvat, Claire, Johnson, Renee, Gayevskiy, Velimir, Morton, Sarah U., Drew, Alexander P., Woo, Kerhan, Statham, Aaron L., Lundie, Ben, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Seidman, J.G., Seidman, Christine E., Dinger, Marcel E., Cowley, Mark J., Fatkin, Diane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271716/
https://www.ncbi.nlm.nih.gov/pubmed/29961767
http://dx.doi.org/10.1038/s41436-018-0084-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271716/
https://www.ncbi.nlm.nih.gov/pubmed/29961767
http://dx.doi.org/10.1038/s41436-018-0084-7

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