Article
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Human mutation - 1 May 2016
Johansson Lennart F, van Dijk Freerk, de Boer Eddy N, van Dijk-Bos Krista K, Jongbloed Jan D H, van der Hout Annemieke H, Westers Helga, Sinke Richard J, Swertz Morris A, Sijmons Rolf H, Sikkema-Raddatz Birgit
Abstract excerpt
We have developed a tool for detecting single exon copy-number variations (CNVs) in targeted next-generation sequencing data: CoNVaDING (Copy Number Variation Detection In Next-generation sequencing Gene panels). CoNVaDING includes a stringent quality control (QC) metric, that excludes or flags low-quality exons. Since this QC shows exactly which exons can be reliably analyzed and which exons are in need of an...
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