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Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN
Background: Targeted next generation sequencing (NGS) panels are increasingly being used in clinical genomics to increase capacity, throughput and affordability of gene testing. Identifying whole exon deletions or duplications (termed exon copy number variants, ‘exon CNVs’) in exon-targeted NGS pane...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
F1000Research
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409526/ https://www.ncbi.nlm.nih.gov/pubmed/28459104 http://dx.doi.org/10.12688/wellcomeopenres.10069.1 |