SOPHiA - Version DDM - Cloud-Based Software Platform for Solid Tumors
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.
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.