Advanced Analytical Platform for Clinical Genomics
SOPHiA DDM® is the platform of choice for clinicians to perform routine diagnostic testing. It integrates modules enabling analysis and protection of clinical NGS data. Our core technologies: PEPPER™, MUSKAT™ and MOKA™, are powered by SOPHiA™ - the most advanced artificial intelligence for Data-Driven Medicine. SOPHiA™ processes and analyses raw genomic data to help hospitals better and faster diagnose patients in the five following areas: Oncology, Metabolism, Pediatrics, Cardiology and Hereditary Cancer.
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 most advanced clinical data analytics platform, without needing any IT infrastructure or resources. The access to the platform is secured by a password, a token pass and https servers.
Step 1 - Create a request
Loaded DNA sequence files are automatically uploaded and immediately processed using our patented advanced algorithms and machine learning approaches. Thus assuring the highest accuracy of your results.
Step 2 - Interpretation
You are now ready for the interpretation part.
Once your sequence data is analyzed and variants are identified in your patient, these variants will be annotated and provided to you within SOPHiA DDM®. Starting from the annotated variants, you can directly interpret them, identify pathogenic variants and generate a variant report – all that within one tool. The team of clinical experts at SOPHiA GENETICS has designed a concise set of rules to pre-classify variants in different pathogenicity classes - from highly pathogenic to benign. This pre-classification significantly eases the interpretation of variants and allows you to systematically evaluate each variant.
Step 3 - Variants report
With our solution, we let you establish your own variants report after the interpretation of your results. It allows you freedom to include essential data.
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 with the same variant. 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 that 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 GENETICS 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 more than 334 different labs participating in the democratisation of patient diagnosis. We have enabled every user of the SOPHiA DDM® to participate and benefit from the Clinical Genomics Community. Within this community, knowledge is shared in an anonymised and safe way. The SOPHiA DDM® facilitates the access to the Clinical Genomics 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. We also appreciate the fact that it allows us to benefit from the classification of rare variants by the SOPHiA DDM® community.”