Calculate QIAseq xHYB HRD Score
The Calculate QIAseq xHYB HRD Score tool takes a read mapping (
) as input and calculates a homologous recombination deficiency (HRD) score. This HRD score is calculated as the sum of three measures of genomic instability:
- Loss-of-heterozygosity (LOH)
- Large-scale state transitions (LST)
- Telomeric allelic imbalance (TAI)
The tool is intended for samples generated using the QIAseq xHYB HRD panel. The analysis includes panel-specific baseline correction based on the SNP backbone of this panel and therefore does not support alternative panels that do not contain this backbone. Only the hg38 human genome assembly is supported.
The HRD score calculation is inspired by the methodology used by the Myriad Genetics Genomic Instability Score (GIS) assay. While the resulting HRD and GIS scores show good correlation, the scores are not identical.
To run the tool, go to:
Tools | LightSpeed (
) | LightSpeed Utility Tools (
) | Calculate QIAseq xHYB HRD Score (
)
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