SOPHiA DDM™ for TSO500 Furthers Analytical Capabilities

Press Release

Published on 07/01/2021

5 min read

BOSTON and LAUSANNE, Switzerland, July 1, 2021  — SOPHiA GENETICS, the creator of a global data-sharing network that advances data-driven medicine, 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.”

SOPHiA GENETICS’s goal is to create trust with its partners through support. The company develops pipelines with its users and aids them in the adoption and use of the platform, with transparency and access to analytical reporting at every step. Expanding the scope of a test may traditionally come with complexities, but SOPHiA GENETICS simplifies the workflow while expanding detection abilities — without sacrificing analytical capabilities.


SOPHiA GENETICS is the creator of a global data-sharing network that advances data-driven medicine to improve health outcomes and economics worldwide. By unlocking the power of new-generation health data for cancer and rare diseases management, the SOPHiA DDM™ Platform assists clinical researchers to act with precision and confidence. The SOPHiA DDM™ Platform and related solutions, products and services currently enable over 750 institutions to benefit from knowledge sharing, fostering a new era in healthcare.

SOPHiA GENETICS’s achievement is recognized by the MIT Technology Review’s “50 Smartest Companies.” SOPHiA GENETICS is a venture-funded company with international operations across the U.S., Switzerland, and France.

More info: SOPHiAGENETICS.COM, follow @SOPHiAGENETICS on Twitter.

Media Contact: [email protected]

About Protean BioDiagnostics Inc.

Protean BioDiagnostics is a disruptive biotechnology company developing and commercializing novel cancer diagnostics supporting precision oncology.  Protean has created Oncology MAPS™ – a unique and innovative, fully integrated diagnostic system for oncologists.  This easy-to-deploy system enables rapid access to precision diagnostics for underserved community-based cancer doctors and their patients wherever they practice. Oncology MAPS includes comprehensive support and access to the latest genetic, molecular and cancer blood monitoring tests as well as educational and telemedicine support.

Protean is transforming cancer practice using a big data approach which integrates digital pathology, multi-omics, and artificial intelligence.  Protean also provides support for contract research, clinical trials, and novel biomarker development using its CAP-accredited, CLIA-certified laboratories and through its extensive client networks. 

Companion diagnostics can be quickly evaluated and deployed leveraging Protean’s extensive laboratory capabilities, expertise, and extensive global research networks.

Sign Up To Our Newsletter

Enter your email address to join our mailing list and receive the latest news and updates from SOPHiA GENETICS. You can unsubscribe by using the link integrated with the communication at any time. By clicking to “sign up”, you agree that SOPHiA GENETICS will process your data in accordance with its Privacy Policy

pink dots icon

Recent Press Releases

pink dots icon

Want to know more?
Get in touch with us.

Our client services team is on hand to help.