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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4079763/ https://ncbi.nlm.nih.gov/pubmed/24406459 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2013.183 |
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