Normalization
The DRAGEN CNV pipeline supports two normalization algorithms:
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Self Normalization—Estimates the autosomal diploid level from the sample under analysis to determine the baseline level to normalize by. Sex chromosomes and PAR regions are handled based on the sample sex. |
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Panel of Normals—A reference-based normalization algorithm that uses additional matched normal samples to determine a baseline level from which to call CNV events. The matched normal samples in this case means it has undergone the same library prep and sequencing workflow as the case sample. |
Which algorithm to use depends on the available data and the application. Use the following guidelines to select the mode of normalization.
Self Normalization
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Whole genome sequencing |
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Additional matched samples are not readily available |
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Simpler workflow via a single invocation |
Panel of Normals
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Whole genome sequencing |
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Targeted panels, including somatic panels |
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Additional matched samples are available |
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Tumor/Matched-Normal analysis |
