SOFTWARE AS A SERVICE ANALYTICAL PLATFORM FOR CLINICAL GENOMICS
SOPHiA DDM® is the platform of choice for clinicians performing routine diagnostic testing. It integrates features facilitating variants visualization and interpretation while assuring protection of clinical genomic data. This platform reduces the complexity of determining the pathogenicity of genomic variants analyzed by SOPHiA AI. It helps hospitals better and faster diagnose patients in the five following areas: Oncology, Metabolism, Pediatrics, Cardiology and Hereditary cancers.
Besides the sequence data analysis, including alignment up to annotated facilitated variants, SOPHiA DDM® comes with many other important functionalities for diagnosing your patients. From multiple panels of selected genes, genomes or exomes from sequenced patient DNA, up to variant report.
Just login to SOPHiA DDM® and you are ready to use the advanced analytical platform, without needing any IT infrastructure or resources. The access to the platform is secured by a password and a token pass.
Step 1 - CREATE A REQUEST
Loaded raw DNA sequence files are automatically uploaded and immediately processed using patented advanced algorithms and machine learning approaches. Thus assuring the highest accuracy of the genomic analysis.
STEP 2 - INTERPRETATION
You are now ready for interpretation part.
Once data is analyzed by SOPHiA, results are visualized on SOPHiA DDM®. The interpretation is facilitated thanks to SOPHiA AI, that pre-classifies variants in different pathogenicity classes - from highly pathogenic to benign. Clinicians can directly interpret the variants and generate a variant report – all that within one tool.
STEP 3 - VARIANTS REPORT
Variant report can be easily generated after results interpretation. This report is customizable and can include essential data selected by clinicians.
Variant database generation and management
In routine diagnostics, it is essential for every lab to manage all found and reported variants in a variant dataset. SOPHiA DDM® enables the generation and management of such a database. Every variant that is interpreted is automatically recorded in the variant database. The interpretation by the user will be applied for every future patient harboring the same variant. Meaning that the information from a patient in Tokyo can for instance help better diagnose and treat a patient in Paris. Furthermore, the history and frequency of a variant in patients is tracked and can be accessed by the user. The SOPHiA DDM variant database is a system that learns and reduces the time spent on the diagnosis of a patient.
Pascale Hilbert, Head of Molecular Biology at the Institute of Pathology and Genetics, Gosselies: “SOPHiA AI basically finds every genomic alteration that is to be found, so I can only say I am very impressed by their SOPHiA DDM platform.”
Patient information like pathological history, phenotype or family information are managed in a safe way and are stored separately from sequenced data using the highest possible security standards for the storage of such information.
Access to Clinical Genomics Community
SOPHiA GENETICS has built the World's Largest Clinical Genomics Community with hundreds of institutions worldwide participating in the democratization of Data-Driven medicine. Through SOPHiA DDM, thousands of experts can easily interpret the variants and flag them with the appropriate level of pathogenicity. This highly valuable information feeds the variant knowledge base and is anonymously and safely shared among the members of the community.
Operational Manager – Molecular Biology Platform at Saint-Luc University Hospital, Woluwe: “SOPHiA DDM is actually the best analytics platform we can work with to improve NGS diagnostics in our Institute. It enables us to benefit from the classification of rare variants by the SOPHiA GENETICS’ community.”