Copy Number Variant Calling

The DRAGEN Copy Number Variant (CNV) pipeline can call CNV events using next-generation sequencing (NGS) data. This pipeline supports multiple applications in a single interface via the DRAGEN Software, including processing of whole-genome sequencing data and whole-exome sequencing data for germline analysis.

The DRAGEN CNV pipeline supports two normalization modes of operation. The two modes apply different normalization techniques to handle biases that differ based on the application, for example, WGS versus WES. While the default option settings attempt to provide the best trade-off in terms of speed and accuracy, a specific workflow may require more finely tuned option settings.