SOPHiA DDM™ Targeted Somatic Applications

Capture the full molecular picture
Maximize targeted insights from DNA and RNA solid tumor samples with the robust analytics of the SOPHiA DDM™ Platform.
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OVERVIEW

Generate cutting-edge insights

Targeted next-generation sequencing (NGS) provides focused variant analysis of key genes of interest in solid tumors. With the rise of precision medicine, leveraging targeted sequencing solutions that are scalable, accurate, and fast is crucial to reduce analysis complexity and accelerate insights generation.

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Pick the signal from the noise

SOPHiA DDM™ Targeted Somatic Applications enable high-quality, streamlined data analysis that enhances decision-making and drives scientific breakthroughs.
Our end-to-end NGS applications are optimized for minimal sample input, utilizing the advanced algorithms of the SOPHiA DDM™ Platform to minimize signal noise and accurately detect key biomarkers in solid tumors through a combined DNA and RNA workflow.

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.
Data sources

Reveal the genetic drivers of cancer

Leverage the data from our global network of 780+ customers to elevate your precision medicine program.

Solid Tumor Solutions

Analyze variants and genes associated with solid tumors with targeted IVD and RUO capture-based applications from our SOPHiA DDM™ Solid Tumor Solution (STS) portfolio.

RNAtarget Technology

Detect novel (partner-agnostic) fusions from RNA with targeted IVD and RUO capture-based applications powered by SOPHiA DDM™ RNAtarget Technology.

Community Solid Tumor Solutions

Access targeted applications developed with and for experts like you to accurately analyze key multi-cancer biomarkers relevant for your laboratory.
KEY FEATURES

Expect more from your molecular analyses

Go from sample to report with targeted next-generation sequencing solutions for DNA and RNA analysis. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable applications to enhance your solid tumor profiling capabilities.
Detect, annotate and visualize SNVs, Indels, CNVs, microsatellite instability (MSI), genomic integrity, novel fusions, gene expression, and exon skipping from low quality or minimal sample amounts (down to 10 ng DNA and 10 ng RNA).
Streamline your laboratory workflow with a combined DNA and RNA protocol that includes automation options for library preparation and advanced multiplexing capabilities, reducing hands-on time so that you can focus on what matters most.
Accelerate variant interpretation with intuitive filters and algorithm-based prioritization. Explore evidence-based insights in just a few clicks using the fully integrated OncoPortal™ Knowledge Base add-on module, streamlining your workflow for faster, more accurate results.
WORKFLOW

Scale your sequencing to new heights

Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.
Flexible and scalable library preparation

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

Accurate variant detection and annotation

Precisely detect challenging variants with our proprietary algorithms.

Advanced variant interpretation

Match cancer molecular profiles to current clinical data with OncoPortal™ Knowledge Base.

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.
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

Add flavor to your solid tumor analysis

Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.
CUMIN™: Precise molecular barcoding
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.
In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV/Indel calling.
Technology Principles
Enhance your clinical research programs with exploratory and testing
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 from solid tumors.
Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.
Technology Principles
CUMIN™: Precise molecular barcoding
Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing 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.
Test  CUMIN™: Precise molecular barcoding
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.
Enhance your clinical research programs with exploratory and testing
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.
Enhance your clinical research programs with exploratory and testing

SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE analysis). 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
Enhance your clinical research programs with exploratory and testing

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

In-sync with ESMO guidelines

SOPHiA DDM™ for Solid Tumors – including SOPHiA DDM™ STS, SOPHiA DDM™ ROS and SOPHiA DDM™ STS+ – aligns with ESMO guidelines for NGS in advanced cancers4, targeting tumor-agnostic biomarkers with an ESCAT Tier I score. It enables accurate detection of key genomic alterations, including NTRK fusions and BRAF mutations, across various cancers like non-small cell lung cancer (NSCLC) and breast cancer.
Learn more

SOPHiA DDM™ Targeted Somatic Applications

Enhance your targeted DNA and RNA sequencing.

Community Solutions for Solid Tumors

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

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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SOPHiA DDM™ for Blood Cancers

Master the challenge of blood cancer analysis

“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. 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.
  4. 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.

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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Unlock entirely novel insights from your radiology images
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