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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a given patient, while avoiding false negative and false positive results....
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803780/ https://www.ncbi.nlm.nih.gov/pubmed/27054082 http://dx.doi.org/10.1016/j.atg.2015.07.006 |