SOPHiA DDM for TSO500 Furthers Analytical Capabilities for Oncologists

By News Release


SOPHiA GENETICS is adding a new Comprehensive Genomic Profiling (CGP) workflow to its DDM platform. The new data-to-report workflow is designed to maximize the utility of the Illumina TSO500 assay by optimizing its data output for secondary analysis. The SOPHiA DDM Platform facilitates highly accurate detection of single nucleotide variants, indels, gene fusions and tumor mutational burden, with expanded coverage of copy number variation in 495 genes and qualitative assessments of microsatellite instability benchmarked to the PCR standard.

SOPHiA DDM for TSO500 offers an accelerated assessment of genomic data thanks to variant pre-classification that is supported by advanced algorithms, customizable filters and hotspot screening. Combined with the OncoPortal, the user gets access to the latest scientific evidence concerning actionability and significance of each genomic alteration in the context of specific cancer. SOPHiA GENETICS' decentralized approach creates a streamlined experience designed to fit an individual lab's needs, while SOPHiA's premium local support helps researchers get into routine efficiently, and stay there.

Protean BioDiagnostics, an early adopter, joined during the development of this technology in order to produce clinically meaningful reports for its Oncology MAPS system, enabling community-based oncologists to access precision medicine treatments and clinical trials opportunities.

“SOPHiA GENETICS provides easy access to top-level bioinformatics expertise, enabling us to analyze NGS data from a variety of sources, different panels and for different purposes,” says Anthony Magliocco, MD, President and CEO of Protean. “SOPHiA DDM for TSO500 allows us to easily see the variant filter and to rapidly evaluate the significance of specific mutations, using conventional knowledge databases as well as in-silico tools to calculate impact of genomic alterations on gene functions.”