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Access Actionable Cancer Biomarkers with an In-depth Analysis of HRD

Homologous recombination deficiency (HRD) is a cell’s inability to repair double stranded DNA breaks resulting in an acquired rate of chromosome aberrations. HRD scoring is an analytical approach to measuring the cellular rate of acquiring chromosome breaks in specific, quantifiable patterns, or “genomic scars.” The three characteristic genomic scars are:

  • Telomeric Allelic Imbalance (TAI)
  • Loss of Heterozygosity (LOH)
  • Large-scale State Transitions (LST)

Cells with elevated HRD scores have been shown to be more sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors and platinum-based therapies.

Whether you are looking to assess HRD profiles in hematological malignancies or solid tumors, Bionano offers different solutions that can help you achieve high-resolution and accurate analysis of genomic scar patterns, for accurate HRD assessment and stratification of samples. Leverage Bionano’s Saphyr® OGM workflow to assess all classes of structural variants in tumor samples and generate in-depth HRD assessments. Achieve detailed data visualization and HRD scoring, from multiple data types, such as sequencing and microarray data, with our VIA™ software for variant calling, annotation, and interpretation.

  • VIA software provides a standardized analytical measurement of the key genomic scars recommended for accurate HRD assessment, generating accurate HRD scoring and sample stratification.
  • VIA is compatible with NGS, microarray, and OGM data.
  • OGM detects copy number changes and structural variants with higher resolution than array or NGS, enabling more precise estimates of the genomic scars and HRD score values.
  • Compatible with hematological malignancy sample types or fresh-frozen tissue from solid tumor samples.
  • Seamlessly integrate multiple datasets in a single view for a holistic way of analyzing the genomic profile of your samples.
  • Display as a karyogram with full transparency to the chromosomal regions affected for easy understanding of the mapping and regions affected by the genomic scars.
  • Obtain high-resolution details on genomic coordinates, breakpoints, and gene affected by SVs and CNVs.

White Paper

Find out more about homologous recombination deficiency and how Bionano VIA software provides in-depth analysis of HRD.
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“Being able to use VIA for the assessment of HRD from both NGS data and microarray data is very helpful to overcome things like tumor percentage.”

Dr. Christopher Lum, M.D.
Diagnostics Laboratory Services

“OGM is a feasible method for accurate quantification of HRD scores (LST, LOH and TAI), enabling a broader spectrum of genomic aberrations detected”

Dr. Rashmi Kanagal-Shamanna, MD
MD Anderson Cancer Center


Chromosome-level visualization of genomic scars.

Genome-wide visualization of genomic scars.

Data presented in poster format during the Association of Molecular Pathology meeting, 2022.

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  1. Sahajpal, NS, et al. Are we using the right tools to calculate homologous recombination deficiency (HRD) scores? AMP. 2022. View/download poster.