SOPHiA DDM™ For Solid Tumors

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Genomic profiling is driving precision oncology. From targeted to comprehensive solutions, Next-Generation-Sequencing (NGS) offers the capacity to simultaneously analyze a select set of genes, regions, and biomarkers based on known involvement across solid tumor such as lung, colon, breast, melanoma, gastric, and ovarian cancers. However, as tests either expand or become more specialized, molecular pathologists now rely on solutions optimized to take the unique parameters of each experiment into account, so they can rapidly access the answers they need.

Adapting to the variations in starting material quality, quantity, and heterogeneity

Accurate detection of somatic variants in tumor samples is not a trivial task. The quality and quantity of starting material often impair reliable variant calling. From deamination, DNA fragmentation, and intratumor heterogeneity, our technology is optimized to take those parameters into account and maximize the chances of variant detection. It is designed for achieve high throughput, reduce of false positive, and detect of hard to cover variants (such as TERT promoter and MET exon 14) even with poor quality starting material.
A universal health data analytics platform for a decentralized approach to healthcare
Fig 1. Coverage of TERT promoter with SOPHiA Solid Tumor Solution in degraded FFPE DNA and highly degraded FFPE DNA (source: data on file)
Data pooling and knowledge sharing
Fig 2. Comparison of SOPHiA DDM™ for TSO500 and SOPHiA DDM™ for TST170 fusion detection capabilities with standard solution - Based on analysis of 65 confirmed fusions from 105 clinical and reference samples (source: data on file)

Balancing limit of detection, noise, sequencing depth for optimal secondary analysis capacity

It is assumed that increasing sequencing depth automatically enables lower levels of detection. However, the reality is more complex. Our technology considers the intricate parameters of solid tumor variant calling and pinpoints the signal out of the noise, so variants are distinguished from artifacts. Whether SNVs, Indels, fusions, or CNVs are called, our detection algorithms are tailored to each experiment to derive valuable insights.

Enabling tertiary analysis with relevant decision-supporting information

As the molecular mapping of solid tumors progresses, cancer subpopulations evolve and become fragmented. Whether 10 or 500 variants are analyzed, the SOPHiA DDM™ platform helps users immediately focus on the relevant and actionable genomic alterations. Several features facilitate their interpretation process: hotspot screening, algorithm-supported variant pre-classification, fully customizable filters, and the Oncoportal™ module. OncoPortal™ provides the latest scientific evidence and guidelines on the actionability and significance of each genomic alteration to support informed decisions for research purposes.
A universal health data analytics platform for a decentralized approach to healthcare
Fig 3. Illustrative representation of SOPHiA DDM™ workflow from secondary analysis data to report
A universal health data analytics platform for a decentralized approach to healthcare
Fig 4. Illustrative representation of the OncoPortal™ functionality
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