SOPHiA DDM™ for Homologous Recombination Deficiency

Maximize insights, minimize complexity
Bring clarity to your clinical research decisions with insights into both the cause and effect of HRD, uncovered by the robust analytics of the SOPHiA DDM™ Platform.
OVERVIEW 

Identify the causes and effects of HRD

Homologous recombination deficiency (HRD), the inability to repair breaks in DNA, is a predictive biomarker that helps inform precision medicine approaches across cancer types, including ovarian cancer¹. However, detecting HRD status can produce complex genomic data sets that are time-intensive to analyze.

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Capturing the complete HRD picture

The SOPHiA DDM™ Platform empowers experts with high-quality, streamlined data analysis for a rapid assessment of HRD status.

In a single workflow, perform targeted sequencing of homologous recombination repair (HRR) genes to reveal the underlying cause of HRD, and utilize our deep learning algorithm coupled with low-pass whole genome analysis to measure genomic instability as a result of HRD.

Easily navigate complex analysis

SOPHiA DDM™ for Blood Cancers simplifies analysis of genomic drivers in hematological cancers using the trusted analytical performance and advanced features of the SOPHiA DDM™ platform.
Streamline raw genomic data analysis to precisely detect, annotate, and prioritize even the most complex blood cancer variants.

Drive discovery with our HRD applications

At SOPHiA GENETICS, we offer a complete portfolio of pipelines and end-to-end NGS applications (from sample to report) to fulfill your needs and better assess key biomarkers involved in myeloid and lymphoid neoplasms, and essential for detection and quantification of measurable residual disease (MRD). 
SOPHiA DDM™ Homologous Recombination Solutions
Identify the underlying cause of HRD across cancer types with the targeted sequencing of 4 to 28 HRR genes, powered by our capture-based SOPHiA DDM™ Homologous Recombination Solutions.
SOPHiA DDM™ HRD Solution
Determine HRD status in ovarian cancer samples by combining the analysis of 28 HRR genes (including BRCA1 and BRCA2) and genomic instability in a single, streamlined workflow.
SOPHiA DDM™ Dx HRD Solution (CE-IVD)
Support accurate HRD assessment in ovarian cancer patients with our IVD diagnostic application, recognized by ESMO as a validated HRD detection method¹.
SOPHiA DDM™ GIInger Genomic Integrity Solution
Measure genomic instability from low-pass whole genome sequencing (WGS) profiles with the GIInger™ algorithm, designed to seamlessly integrate with your capture-based workflow.
KEY FEATURES

Expand identification of HRD+ samples

Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.
Leverage the deep learning-based GIInger™ algorithm to analyze data from low-pass whole genome sequencing (WGS) profiles (~1x coverage) and produce the Genomic Integrity Index (GII), a predictive score of a sample’s genomic instability status.

Detect germline and somatic mutations (SNVs, Indels, gene amplifications/deletions and exon-level CNVs) in up to 28 HRR genes involved in the etiology of HRD, including BRCA1 and BRCA2, with a targeted sequencing approach.

Choose from adaptable dry-lab and bundled applications for a universal, flexible approach to in-house HRD analysis that integrates effortlessly into existing lab workflows. The GIInger™ algorithm is compatible with a wide suite of solid tumors applications, from targeted to CGP solutions.
WORKFLOW

Every step leads to informed decisions

Empower your HRD expertise with a simple, adaptable workflow.

* Only available for RUO applications

Flexible and scalable library preparation

Reduce hands-on time with one universal*, automated protocol for robust sequencing.

Advanced variant interpretation

Match cancer molecular profiles to the latest evidence with OncoPortal™ Knowledge Base*.

Enhanced variant annotation and visualization
Leverage information from curated databases, incl. BRCA Exchange for BRCA1/2 annotation.
Customizable reports

Quickly prepare clear, comprehensive reports on HRD status*.

You won’t be left alone.
Enjoy comprehensive support at every step through the SOPHiA DDM™ MaxCare Program, making in-house adoption a breeze.
WORKFLOW

A wave of insights for every laboratory

Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.
Flexible and scalable library preparation
Rely on robust sequencing across multiple applications using one universal and automated protocol.
Advanced variant interpretation
Match tumor molecular profiles with clinical associations and available clinical
Accurate variant detection and annotation
Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.
Customizable reporting
Quickly prepare comprehensive reports tailored to your needs.
ANALYTICS

Give your HRD analysis a kick

Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.
Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation.

GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement)².

Accurately identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.
Technology Principles

Identify critical gene amplification/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.

Technology Principles
Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.
Technology Principles

Recognized by ESMO guidelines

Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1/2 and HRD testing using a validated assay in patients with advanced ovarian cancer1.
SOPHiA DDM™ Dx HRD Solution (CE-IVD) is recognized as a validated HRD detection method in the ESMO recommendations for next-generation sequencing (NGS) in advanced cancers1.

SOPHiA DDM™ for Homologous Recombination Deficiency

Simplify your HRD assessment with a universal approach.
APPLICATIONS

Select a solution for your lab

Our comprehensive portfolio offers a range of ready-to-use solutions that enable precise characterization of genes and biomarkers associated with HRD.

Comparison Table Heading

  MSK-ACCESS® powered with SOPHiA DDM™ Adapt existing SOPHiA GENETICS solid tumor applications to liquid biopsy Custom liquid biopsy applications tailored to your needs
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OncoPortal™ Knowledge Base

Advancing interpretation of somatic variants.

“Through this collaboration, we aim to enable the widespread application of precision medicine in oncology across Africa, and thus contributing to the improvement of patient outcomes across the African continent.

We believe our scientific expertise, combined with AI-enabled technologies and data-driven solutions enabled by SOPHiA GENETICS, presents a unique opportunity to fundamentally transform the journey of cancer patients through non-invasive cancer analysis, predictive genomic testing, and effective precision medicine”.

Abasi Ene-Obong, PhD.

Founder, Syndicate Bio

References

  1. Mosele MF, Westphalen CB, Stenzinger A, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with advanced cancer in 2024: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2024 Jul;35(7):588-606.
  2. Pozzorini C, Andre G, Coletta T, et al. GIInger predicts homologous recombination deficiency and patient response to PARPi treatment from shallow genomic profiles. Cell Rep Med. 2023 Dec 19;4(12):101344.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.

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