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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2016
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| 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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