HRD Reference Standards – For Homologous Recombination Deficiency Research
Well-characterized HRD reference samples with defined genomic scarring metrics (LOH, TAI, LST).
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Homologous Recombination Deficiency (HRD) Reference Standards
Homologous recombination deficiency (HRD) results from loss of function in the HRR pathway, most commonly due to BRCA1/2 mutations or other HRR gene alterations. HRD leads to characteristic “genomic scars” including loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST). Tumors with HRD are more sensitive to PARP inhibitors and platinum-based therapies.
CB-Gene’s HRD reference standards were developed in response to the growing need for well-characterized controls in the HRD testing field. Starting in 2020, we collaborated with multiple diagnostic companies to benchmark samples and address the significant variability observed in HRD score calculations across different platforms and bioinformatics pipelines.
Our HRD reference panel includes:
22 paired tumor-normal samples (normal cells immortalized to preserve genomic integrity)
4 single samples (tumor-only)
1 sample that serves as both a paired and single sample for cross-validation
Samples classified as HRD Score-High, HRD Score-Medium, and HRD Score-Low based on multi-lab consensus data.
For Research Use Only. Not for use in diagnostic procedures. Not intended to replace national reference panels for regulatory submission.
Product Advantages
Our HRD Reference Standards to ensure the accuracy and reproducibility of HRD testing in clinical diagnostics and research, standardized reference materials are essential.
Paired immortalized cell lines
Tumor and matched normal cells immortalized to preserve genomic integrity and enable accurate somatic mutation calling.
WGS + dual-sample validation
Values determined through whole-genome sequencing with a paired analysis process to verify panel accuracy.
Multiple customizable formats
Includes Benign, Likely Benign, Uncertain Significance, Likely Pathogenic, and Pathogenic variants.
Authentic HRD-positive genomic characteristics
Includes pathogenic BRCA1/2 variants (germline and somatic), genome-wide LOH, TAI, and LST.
Wide HRD score distribution
Covers high, medium, and low HRD scores to simulate real clinical sample diversity.
Dedicated technical support
Free pre- and post-sales assistance for assay integration and data interpretation.
Application
Clinical Assay Validation for PARP Inhibitor Therapy Research
Laboratory Quality Control & HRD Score Algorithm Validation
Companion Diagnostic Development & NGS Platform Benchmarking
Company Advantage
Expertise in reference standards – CB-Gene specializes in oncology molecular diagnostics with ISO‑certified production and patented technology.
Scientific Quality Management
With our ISO9001 certification, we adhere to a stringent quality management system, ensuring that all our products meet the highest standards of accuracy, stability, and consistency.
Experienced and Skilled Team
Backed by a talented team of experts, we leverage advanced technology and extensive experience to drive innovation in molecular diagnostics, ensuring we stay at the forefront of the industry.
Comprehensive annotation
Includes benign to pathogenic variants, helping you evaluate real‑world assay performance.
Comprehensive Product Range
We offer a complete set of reference materials, including SNP, Indel, CNV, Fusion, NIPT, and more, covering a wide array of diagnostic needs and offering customized services for a variety of applications.
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We're here to assist you! Whether you have questions about our products, services, or need technical support, our team is ready to provide you with the information you need. Reach out to us today!
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