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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...
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| Publicat a: | Wellcome Open Res |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
F1000Research
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5409526/ https://ncbi.nlm.nih.gov/pubmed/28459104 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.10069.1 |
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