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

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...

書誌詳細
主要な著者:	Fowler, A, Mahamdallie, S, Ruark, E, Seal, S, Ramsay, E, Clarke, M, Uddin, I, Wylie, H, Strydom, A, Lunter, G, Rahman, N
フォーマット:	Journal article
言語:	English
出版事項:	F1000Research 2016

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