Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2014
|
| Materias: | |
| 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 |