Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory

PURPOSE: Sanger sequencing is currently considered the gold standard methodology for clinical molecular diagnostic testing. However, next generation sequencing (NGS) has already emerged as a much more efficient means to identify genetic variants within gene panels, the exome, or the genome. We sough...

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Detalles Bibliográficos
Autores principales: Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079763/
https://www.ncbi.nlm.nih.gov/pubmed/24406459
http://dx.doi.org/10.1038/gim.2013.183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079763/
https://www.ncbi.nlm.nih.gov/pubmed/24406459
http://dx.doi.org/10.1038/gim.2013.183

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