CNV detection in targeted NGS panel data. CNV detection in targeted NGS panel data

Data can be found here: https://www.ebi.ac.uk/ega/studies/EGAS00001002481 For details about access, please see http://bioinf.jku.at/research/panelcnmopsdata/ The aim of this study was to compare copy-number-variation (CNV) detection methods for targeted NGS panel data in a clinical diagnostic setting. We present targeted NGS panel data from 170 samples that were processed using the TruSight Cancer (TSC) panel (Illumina, San Diego, CA, USA), which targets 94 genes and 284 SNPs associated with a predisposition towards cancer. The samples are enriched for CNVs in the genes of interest. All CNVs have previously been assessed with MLPA and can therefore be considered as confirmed.