SOPHiA DDM™ for Comprehensive Genomic Profiling

Deeper genomic insights, fewer missed opportunities

Identify complex biomarkers across hundreds of key cancer-associated genes with the advanced analytics and intuitive interpretation features of the SOPHiA DDM™ Platform.

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Overview Key Features Workflow Analytics Applications Resources

OVERVIEW

Uncover insights from multi-cancer biomarkers

CGP enables specialists to identify actionable biomarkers across hundreds of cancer-associated genes using a single solution. Robust analytics and user-friendly interpretation features are essential to quickly extract meaningful insights from vast genomic data without missing key information.

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Expand your research horizons

SOPHiA DDM™ for CGP empowers experts with high-quality, streamlined data analysis that boosts scientific breakthroughs and enhances decision-making.

Leverage the power of the SOPHiA DDM™ Platform to accurately detect, annotate, and prioritize complex variants across all solid tumor types, significantly reducing analysis time so you can swiftly advance your clinical research objectives.

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.

APPLICATION

Pinpoint variants across hundreds of genes

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).

MSK-IMPACT® powered with SOPHiA DDM™

Enhance your genomic profiling with a decentralized version of the best-in-class, 505-gene next-generation sequencing (NGS) application used in routine by Memorial Sloan Kettering Cancer Center (MSK) experts.

SOPHiA DDM™ Cancer Profiling Solution

Accurately detect complex biomarkers, including genomic instability, with a streamlined sample-to-report NGS application covering 480 genes for DNA and 136 genes for RNA (556 total unique genes).

SOPHiA DDM™ for TSO500

Discover a fully integrated bioinformatics workflow for Illumina® TruSight™ Oncology 500 panel (TSO500), covering 523 genes for DNA and 55 genes for RNA.

SOPHiA DDM™ SureSelect Cancer CGP Assay

Maximize insights with a bioinformatics workflow for the Agilent SureSelect Cancer CGP Assay, covering 679 genes for DNA and 80 genes for RNA, with the option to assess genomic instability as an add-on.

KEY FEATURES

Bring clarity to your CGP analysis

Uncover novel CGP insights with a comprehensive range of guideline-driven, ready-to-use, and customizable next generation sequencing (NGS)-based applications to enhance your genomic profiling capabilities.

Accurate variant detection

Efficiently call, annotate, and pre-classify complex variants and biomarkers, including SNVs, Indels, CNVs, gene fusions, microsatellite instability (MSI), genomic integrity, and tumor mutational burden (TMB) from raw NGS data with the advanced algorithms of the SOPHiA DDM™ Platform.

Globally curated content

Stay ahead of the changing guidelines landscape in your cancer research with tumor genomic profiling applications that are expertly designed to cover genes of emerging and known associations across all solid tumor types.

Enhanced interpretation support

Accelerate variant interpretation with intuitive filters and machine learning-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.

“SOPHiA DDM™ secondary analysis is able to detect some of the most difficult variants, especially long indels that we were missing more frequently with standard solutions.”
Faisal Khan, PhD
Director
Molecular Pathology Laboratory

WORKFLOW

Every step leads to informed decisions

Accelerate multi-cancer insights with a streamlined, automatable workflow that fits your laboratory’s 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.

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ANALYTICS

Elevate your research with accurate tumor profiling

Reliably call, annotate, and pre-classify variants and biomarkers with proprietary SOPHiA DDM™ algorithms that span multiple variant types.

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. 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

CUMIN™: Precise molecular barcoding

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

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.

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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.

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CUMIN™: Precise molecular barcoding

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™ technology 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.

Technology Principles Read Publication

CUMIN™: Precise molecular barcoding

SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE anaylsis). 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

CUMIN™: Precise molecular barcoding

Our 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™’s filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.

Technology Principles

Matched tumor-normal approach

A key limitation of tumor-only sequencing is its inability to differentiate between germline and somatic mutations. A study found that this approach could produce false positives for up to one-third of detected alterations⁴.

MSK-IMPACT® powered with SOPHiA DDM™ uses a matched tumor-normal approach, enabling precise detection of tumor-specific variants and clear differentiation from germline mutations.

Comprehensive genomic profiling

Stay ahead of the curve in your cancer research.

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APPLICATIONS

Choose the Solution to Fit Your Needs

Accurately characterize the complex mutational landscape associated with major hereditary cancer disorders using one of our RUO, CE-IVD (Dx), or community solutions.

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