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 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 |
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Only references with chr1, chr2, chr3, ..., chrX, chrY or 1, 2, 3, ..., X, Y naming conventions are supported |
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 |
