Browsing ICR Divisions by author "Wylie, Harriet"
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Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
Fowler, A; Mahamdallie, S; Ruark, E; Seal, S; Ramsay, E; et al. (F1000 Research Ltd, 2016-11-25)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 ...