SOPHiA DDM™ 
for Solid Tumors

Expand your horizons with next-level molecular insights
Strengthen your solid tumor profiling capabilities with accurate detection of complex variants, advanced biomarkers, and evidence-based interpretation, trusted by a network of trusted oncology experts.
OVERVIEW

Bringing clarity to cancer diversity

Each solid tumor is unique, with its own intricate molecular profile. For specialists, accurately detecting genomic drivers is critical for informed decision-making. Without robust analytical technology, complex biomarkers can be elusive, adding delays and cost to testing and result interpretation.

Grow without limits

SOPHiA DDM™ for Solid Tumors simplifies the exploration of cancer driver genes by utilizing the trusted analytics and advanced features of the SOPHiA DDM™ Platform. 
Streamline raw genomic data analysis to accurately detect, annotate, and prioritize even the most challenging biomarkers including SNVs, Indels, CNVs, HRD, MSI, TMB, and gene fusions.
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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.

Innovative solutions for solid tumor profiling

Targeted Somatic Applications

Capture the complete molecular picture of solid tumors with targeted IVD and RUO next-generation sequencing (NGS)-based applications for DNA and RNA analysis.

Comprehensive Genomic Profiling

Uncover complex biomarkers with our comprehensive genomic profiling (CGP) applications, incorporating the latest insights on cancer-associated genes.

Homologous Recombination Deficiency

Simplify your homologous recombination deficiency (HRD) analysis with IVD and RUO applications that leverage a deep learning-based, workflow-agnostic approach.
KEY FEATURES

Taking you from blueprint to breakthrough

Gain clear, actionable insights through streamlined, end-to-end workflows. Accurately characterize key genomic variants driving solid tumor malignancies across cancer types using our comprehensive, guideline-driven portfolio of ready-to-use and customizable next-generation sequencing (NGS)-based applications.
Propel genomic discovery using analytically verified applications that harness proprietary algorithms, trusted by a network of leading oncology experts.
Confidently generate data internally, knowing your results will align with those from other labs operating under the same conditions, all while securely maintaining full control over your samples and data.
Automate your high-throughput analyses to rapidly assess the most relevant biomarkers in your laboratory, from any size dataset, across all solid tumor types.
WORKFLOW

Every step leads to informed decisions

Streamline your solid tumor profiling workflow from sample to comprehensive, customized report.
Flexible and scalable library preparation

Use one universal, automated protocol for robust sequencing across applications.

Advanced variant interpretation

Match cancer genomic profiles to the most up-to date information with OncoPortal™ Knowledge Base.

Accurate variant detection and annotation

Precisely detect challenging genomic variants with our proprietary algorithms.

Customizable reporting

Quickly prepare comprehensive reports tailored to your needs.

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

Spice up your solid tumor analysis

Detect even the most challenging variants and biomarkers with the proprietary algorithms of the SOPHiA DDM™ Platform.
Sensitive SNV, Indel & TMB detection
Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. The SNVs and Indels called by SOPHiA DDM™ are used to accurately estimate tumor mutational burden (TMB).
For example, our technology demonstrated high correlation for overall (R2 = 0.99) and non-synonymous (R2 = 0.99) TMB estimation when compared to a standard assay.
Technology Principles
Accurate CNV calling
Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications and whole gene deletions.
Technology Principles
Partner-agnostic fusion calling
Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, leveraging hybrid-capture and a probabilistic graphical model to reduce false positives.
In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84/84 events, including 70/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach1.
Genomic instability measurement
Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions.

GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement)².
Pan-cancer MSI detection
Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples.
MUSTARD™ demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%)3.
Precise molecular barcoding
SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.
Technology Principles
Robust variant annotation
Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.
Technology Principles

SOPHiA DDM™ for Solid Tumors

Expand your horizons with next-level molecular insights.
APPLICATIONS

A portfolio of solid tumor solutions

Fulfill your cancer genomic profiling needs with a complete portfolio of NGS-based applications, enabling you to better assess key biomarkers essential for solid tumor characterization.

Comparison Table Heading

  SOPHiA DDM™ HCS v1.1 (RUO) SOPHiA DDM™ HCS v2.0 (RUO) SOPHiA DDM™ Dx HCS (CE-IVD)
Diseases covered Hereditary Breast and Ovarian Cancer (HBOC), Lynch and various intestinal polyposis syndromes Breast, ovarian, prostate, abdominal, endocrine & neuroendocrine, nervous system, renal, and skin Breast and ovarian cancers and colorectal syndromes
Diseases covered 26 + PMS2CL 82 + PMS2CL 26 + PMS2CL
Target region size 105 kb 285 kb 105 kb
Sample type Blood Blood Blood
DNA input amount 200 ng 50 ng 200 ng
Sequence
  • Illumina MiniSeq™, MiSeq®, NextSeq® 500/550
  • Thermo Fisher Scientific Ion Proton™, Ion S5™
  • MGI DNBSEQ-G400
  • Illumina MiSeq®,  NextSeq® 500/550, NextSeq® 1000/2000
  • MGI DNBSEQ-G400
  • Illumina MiSeq®
Library prep time 1.5 days 1.5 days 2 days
Analysis time from FASTQ 4 hours 4 hours < 6 hours
Detected variants
  • SNVs
  • Indels
  • CNVs
  • Alu insertions
  • PMS2vsPMS2CLvariants
  • Boland inversion
  • SNVs
  • Indels
  • CNVs
  • Aluinsertions
  • PMS2 vs PMS2CL variants
  • Boland inversion
  • SNVs
  • Indels
  • CNVs (Clinical Decision Support only)
  • PMS2 vs PMS2CL variants (Clinical Decision Support only)

Community Solutions for Solid Tumors

Accelerate your analysis with expertly-designed NGS-based applications.

References

  1. Kubik S, Matyszczak I, Toda N, et al. Critical assay parameters facilitating confident detection of expression changes, fusions and short variants in RNA isolated from tissue. BioRxiv preprint (2024): https://doi.org/10.1101/2024.10.30.621018;
  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.
  3. Marques A, Ferraro-Peyret C, Michaud F, et al.. Improved NGS-based detection of microsatellite instability using tumor-only data. Front Oncol. 2022 Nov 17;12:969238.

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.

SOPHiA DDM™ Overview
Unlocking Insights, Transforming Healthcare
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SOPHiA DDM™ for Genomics

Oncology 

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Professional Services
Accelerate breakthroughs with our tailored enablement services
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