DRAGEN Array PGx CNV Calling
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For PGx CNV calling, it is recommended that 96 or more samples passing LogRDev <= 0.2 are included in the analysis. The metric is provided in the genotyping sample summary file (gt_sample_summary.csv). For more details, see the explanation for the local analysis.
Detailed notes on running this analysis for local can be found here. But for cloud, a workaround is necessary because semi-custom product samples are filtered from the BeadChip table in BaseSpace. Follow these steps:
Select an existing commercial product configuration (e.g., GDA_PGx-8v1-0_G4 - GRCh38)
Kick off an analysis using the Import Sample Sheet option for the semi-custom product samples
For specific product compatibility, see the Product & Analysis Compatibility table.
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