Copy Number Variant Workflow
The copy number variant pipeline has the following processing modules:
| • | Target Counts—Binning of the read counts and other signals from alignments. |
| • | Bias Correction—Correction of intrinsic system biases. |
| • | Normalization—Detection of normal ploidy levels and normalization of the case sample. |
| • | Segmentation—Breakpoint detection via segmentation of the normalized signal. |
| • | Calling / Genotyping—Thresholding, scoring, qualifying, and filtering of putative events as copy number variants. |
For more information, see the Illumina DRAGEN Bio-IT Platform User Guide (document # 1000000070494).