SOPHiA Solid Tumor Solutions

Profiling the cancer genome to optimize solid tumor management

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Clinical oncology is increasingly adopting next-generation sequencing (NGS) in response to the growing number and type of biomarkers that require rapid assessment.

Targeted genomic profiling offers the ability to focus on a set of biomarkers known to be associated with a cancer. Compared to broader approaches, targeted gene sequencing reduces workflow complexity, avoids unnecessary sequencing costs, and minimizes the effort needed for variant interpretation and reporting.

 

SOPHiA Solid Tumor Solution (STS) and SOPHiA Solid Tumor Plus Solution (STS Plus) are NGS-based applications that combine expertly designed targeted panels with access to the analysis and interpretation functions of the SOPHiA DDM™ platform. Both solutions enable accurate detection of SNVs, Indels and CNVs in addition to Microsatellite Instability (MSI) status in genes involved in solid tumors, such as lung, colorectal, skin, and brain cancers. SOPHiA STS Plus offers additional insights by also targeting 137 fusion genes. Both solutions provide a streamlined sample-to-report workflow that greatly accelerates variant assessment, while ensuring confidence in your results.

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Highlights

  • Expertly designed panels, delivering a high on-target rate throughout the entire target regions
  • Ready-to-use target-enriched libraries generatred in just 1.5 days for DNA and 6 hours for RNA
  • Customizable content to perfectly meet the unique needs of each research laboratory
  • High coverage uniformity, ensuring accurate variant detection (SNVs, Indels, CNV, MSI and gene fusions) and unlocking the efficiency in multiplexing more samples per run
  • Streamlined interpretation with the SOPHiA DDM™ intuitive user interface, algorithm-supported variant classification, and access to:
  • OncoPortal™ to obtain the latest scientific evidence on all relevant variants
  • One of the largest networks of connected healthcare institutions, to gain and share knowledge on relevant variants
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Specifications

Parameters STS STS Plus
Addressed diseases Lung, colorectal, skin, and brain cancers Lung, colorectal, skin, and brain cancers
Covered Genes 42 genes 42 genes and 137 gene fusions
Key Biomarkers ALK, BRAF, EGFR, IDH1, IDH2, GNA11, GNAS, GNAQ, HIST1H3B, H3F3A, H3F3B, MET, KRAS, KIT, NRAS, MET, PIK3CA Same biomarkers of STS and fusion events involving genes such as ALK, BRAF, EGFR, FGFR1, FGFR2,
FGFR3, NTRK1, NTKR3, PPARG, RET and ROS1
Sarting material 10 ng DNA minimum (50ng recommended) 10 ng DNA minimum (50ng recommended), 100-200ng RNA (STS Plus only)
Sample Type FFPE, fresh-frozen tissue FFPE, fresh-frozen tissue
Sequencer Compatibility
  • Illumina MiniSeq™ kit  (2x150bp)
  • Illumina MiSeq® kit v3 (2x300bp)
  • Ion Torrent™ Ion (S5)
  • Illumina MiSeq® kit v3(2x300bp)
  • Illumina NextSeq® 500/550 V2 (2x150bp)
Total Library Preparation Time 1.5 days for DNA 1.5 days for DNA, 6 hours for RNA
Analysis Time From FASTQ From 4 hours From 4 hours
Detected Variants SNVs
Indels
CNV in 24 genes
MSI
SNVs
Indels
CNV in 24 genes
MSI
Fusions

Thoroughly assessed to provide confidence in your results

A six-center evaluation assessed SOPHiA STS with more than 150 samples. The study confirmed reliable performance that can facilitate confident decision-making.

Performance Metrics Observed Lower CI
Analytical Sensitivity 98.77% 93.31%
Analytical Precision 100% 96.25%
Analytical Specificity 100% 99.92%
Analytical Accuracy 99.97% 99.85%
Analytical Repeatability 96.45% 96.41%
Analytical Reproducibility 89.13% 89.05%
Coverage Uniformity 98.7% 92.5%
Values have been calculated for SNVs and Indels from a total of 150 samples processed on MiSeq®.

Dedicated features to ease variant interpretation

The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline interpretation and help reduce turnaround time.

  • Hotspot Screening to quickly pinpoint the relevant hotspots and provide a clear overview of the wild-type hotspot positions
  • Variant Pre-Classification to facilitate assessment of variants’ pathogenicity
  • Virtual Panels to limit interpretation to a subset of genes
  • Cascading Filters to enable user-created custom filtering strategies for quicker identification of relevant variants
  • OncoPortal™ to support decisions based on the Jax-CKB™, CAP, ASCO, AMP and other databases
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Related genomic solutions

SOPHiA DDM™ for Blood Cancers

Our future-proof end-to-end solutions allow detection and characterization of complex genomic variants associated with different blood cancers.

A universal health data analytics platform for a decentralized approach to healthcare

SOPHiA DDM™ for Solid Tumors

From targeted to comprehensive genomic profiling, our solutions support healthcare professionals in their journey to analyze solid tumors.

A universal health data analytics platform for a decentralized approach to healthcare

 SOPHiA DDM™ for Hereditary Cancers

Our solutions help reduce time to confidently assess multiple types of challenging genetic variants that indicate predisposition to inherited cancers.

A universal health data analytics platform for a decentralized approach to healthcare
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