DRAGEN Array PGx CNV Calling

Quality Control Recommendations

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.

Semi-Custom PGx Products

Running Semi-Custom PGx Analysis on Cloud

Detailed notes on running this analysis for local can be found herearrow-up-right. But for cloud, a workaround is necessary because semi-custom product samples are filtered from the BeadChip table in BaseSpace. Follow these steps:

  1. Select an existing commercial product configuration (e.g., GDA_PGx-8v1-0_G4 - GRCh38)

  2. Kick off an analysis using the Import Sample Sheet option for the semi-custom product samples

Applicable Arrays

For specific product compatibility, see the Product & Analysis Compatibility table.

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