Output from the Identify HRD Score workflow
All of the original outputs from the underlying workflow have been retained. To view information about those, go to the Identify QIAseq DNA Variants template workflows section (The Identify QIAseq DNA Variants template workflows).
There are four outputs that are specific to the Identify HRD Score workflow:
- The Detect Regional Ploidy tool outputs a Target-level_ploidy_track and a
Regional_ploidy_results_report. The ploidy track contains the called target-level ploidy states and the report contains graphical overviews of the called ploidy regions and the underlying CNVs and SNP allele frequencies, allowing for easy inspection of the results. See the Detect Regional Ploidy tool for a detailed description (Detect Regional Ploidy). - The HRD report contains the HRD score and the individual LOH, LST and TAI scores. It also details the regions/events called for each type of chromosomal aberation. See the Calculate HRD Score (beta) tool for a detailed description (Calculate HRD Score (beta)).
- A variant track called Variants_15_HRR_genes_passing_filters lists identified variants in target regions of the 15 HRR genes ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCA, FANCL, PALB2, RAD51B, RAD51C, RAD51D, RAD54L. The variants are also comprised in the full list of filtered variants. The additional output has only been included to facilitate easy inspection of variants in HRR genes.