CNV detection in targeted NGS panel data
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(TM) 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.
- Type: Other
- Archiver: EGA European Genome-Phenome Archive
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panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.
Hum Mutat 38: 2017 889-897
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Eur J Hum Genet 28: 2020 1645-1655