MSK-IMPACT® powered with SOPHiA DDM™

MSK-IMPACT® powered with SOPHiA DDM™ is a decentralized version of the highly validated comprehensive genomic profiling (CGP) test developed and routinely used by Memorial Sloan Kettering Cancer Center (MSK), involving the targeted sequencing of 505 genes associated with rare and common cancers.

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. Learn More >

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

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

Workflow

Every step leads to informed decisions – Accelerate multi-cancer insights with a streamlined, automatable workflow that fits your laboratory’s needs.

• 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

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.

• 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 (R = 0.99) and non-synonymous (R = 0.99) TMB estimation when compared to a standard assay.
• 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 deletions, and exon-level CNVs.
• 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™ 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%).
• 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.
• Robust variant annotation – 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.
• 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 alterations.

Documents

• Fact Sheet: MSK-IMPACT® powered with SOPHiA DDM™
• Flyer: MSK-IMPACT® powered with SOPHiA DDM™

Ordering Information

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