SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution

SOPHiA DDM™ HRD Solution is a decentralized NGS application for HRD detection in ovarian cancer samples, combining targeted sequencing of germline and somatic mutations in 28 HRR genes (including BRCA1 and BRCA2) with GIInger™, a deep learning algorithm that uses low-pass whole genome sequencing data to recognize patterns of genomic instability.

Sample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.

Specifications

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.

Workflow

Every step leads to informed decisions – Empower your HRD expertise with a simple, adaptable 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.
• 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.

• Universal genomic integrity assessment – 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).
• Sensitive SNV and Indel detection – 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.
• Reliable CNV analysis – 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.
• Robust variant annotation – 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.
• 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 cancer.

Documents

• Flyer: SOPHiA DDM™ HRD Solution (RUO)

Ordering Information

For Research Use Only. Not for use in diagnostic procedures.