Article

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN

2016-11-25

Abstract excerpt

<h4>Background: </h4> 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 panels has proved challenging, particularly for single exon CNVs. <h4>Methods: </h4>: We developed a tool for...

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Literature Corpus work: 4c0d7cc8-4dd4-5391-90b2-f20014619dac
DOI: 10.12688/wellcomeopenres.10069.1

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