SOPHiA DDM™ Solid Tumor Solution (STS)

SOPHiA DDM™ Solid Tumor Solution (STS) covers 42 genes associated with solid tumors, including lung, colorectal, skin, and brain cancers. It also covers 6 unique loci to detect MSI status associated with colorectal cancer.

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

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.

Workflow

Scale your sequencing to new heights – Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.

• 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

Add flavor to your solid tumor analysis – Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.

• Sensitive SNV and Indel 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. In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV/Indel calling.
• 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 from solid tumors. Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.
• Partner-agnostic fusion calling – 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 approach.
• Universal genomic integrity assessment – 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).
• 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%).
• Precise molecular barcoding – 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.
• 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.
• 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 cancers, 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.

Documents

• Fact Sheet: SOPHiA DDM™ Solid Tumor Solution (RUO)

Ordering Information

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