The Identify HRD Score template workflows

Three workflows have been set up to report an HRD score:

The two Identify QIAseq DNA Somatic Variants with HRD Score workflows are built on Identify QIAseq DNA somatic variants. Compared to the original workflow only a few changes have been made. The Calculate LOH and HRD tool with relevant inputs has been included, the parameter defining graining level in the Copy Number Variant Detection (CNVs) tool has been set to fine and an input to Control mappings in the Copy Number Variant Detection (CNVs) is now mandatory.

The workflow Identify QIAseq DNA Somatic and Germline Variants with HRD Score from Tumor Normal Pair is built on Identify QIAseq DNA Somatic and Germline Variants from Tumor Normal Pair. Compared to the original workflow, the Calculate LOH and HRD and Copy Number Variant Detection (CNVs) tools with relevant inputs have been included.

In all three HRD workflows, an additional variant output listing variants in target regions overlapping 15 Homologue Recombination Repair genes is also included to facilitate easy inspection of variants in these genes.

Note that the Calculate LOH and HRD (beta) tool takes a target region track produced by a CNV detection tool as input. Therefore, to run this workflow, control mappings for the CNV baseline must be available. Control mappings can be generated with the workflow Create QIAseq DNA CNV Control Mapping (Illumina/Ion Torrent), see section Create QIAseq DNA CNV Control Mapping workflows.

To see a general description of the workflows and how to start them, go to the manual page for the Identify QIAseq DNA Variants template workflows (The Identify QIAseq DNA Variants template workflows).

The reference data for the QIAseq HRD panel is available in the reference data set QIAseq RNA panels hg19.



Subsections