Panel of Normals TruSight Hereditary Cancer Panel datasets for copy number variations in BaseSpace

To simplify germline copy number variations (CNV) detection in hereditary cancers, Illumina is providing baseline files of a “panel of normal” samples to enable comparison CNV calling when using the TruSight Hereditary Cancer Panel on Illumina platforms.

A total of 42 characterized samples were prepared with the TruSight Hereditary Cancel Panel following Illumina recommended protocols at 58C for hybridization. This set was then sequenced on different sequencers and processed with the DRAGEN CNV Baseline Builder 3.10 using hg19_alt_masked_v2 as reference genome.

Users can find the Demo Data sets on BaseSpace:

Users can use the Panel of Normals (PONs) with DRAGEN Enrichment app (v3.10 or 4.0) on BaseSpace.

When running the DRAGEN Enrichment app with these PONs, users must use hg19 as reference genome. If the hg38 reference genome is used for the DRAGEN Enrichment app, the analysis will fail.

These are the PONs that are mentioned in the Analyze germline CNVs with TruSight Hereditary Cancer Panel technote.

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