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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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Hamilton, Alison, Tétreault, Martine, Dyment, David A., Zou, Ruobing, Kernohan, Kristin, Geraghty, Michael T., Hartley, Taila, Boycott, Kym M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5023935/
https://ncbi.nlm.nih.gov/pubmed/27652278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.223
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