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Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

The clinical translation of next‐generation sequencing has created a paradigm shift in the diagnostic assessment of individuals with suspected rare genetic diseases. Whole‐exome sequencing (WES) simultaneously examines the majority of the coding portion of the genome and is rapidly becoming accepted...

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Detalles Bibliográficos
Autores principales:	Hamilton, Alison, Tétreault, Martine, Dyment, David A., Zou, Ruobing, Kernohan, Kristin, Geraghty, Michael T., Hartley, Taila, Boycott, Kym M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023935/ https://www.ncbi.nlm.nih.gov/pubmed/27652278 http://dx.doi.org/10.1002/mgg3.223

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