Panel of Normals

The panel of normals mode uses a set of matched normal samples to determine the baseline level from which to call CNV events. These matched normal samples should be derived from the same library prep and sequencing workflow that was used for the case sample. This allows the algorithm to subtract system level biases that are not sample specific.

In this mode, the DRAGEN CNV Pipeline is broken down into two distinct stages. The target counts stage is performed on each sample, case, and normals, to bin the alignments. The normalization and call detection stage is then performed with the case sample against the panel of normals to determine the events.