SOPHiA DDM™ for Genomics

Discover the full power of your genomic data
Patient and MD

SOPHiA DDM™ for Genomics

Discover the full power of your genomic data
The massive amount of data generated by Next-Generation Sequencing requires considerable time and skills for proper variant analysis and interpretation. SOPHiA DDM™ helps you increase your productivity, enabling high-throughput genomic analysis for cancers and inherited diseases. Designed to be secure, the platform offers a streamlined end-to-end workflow (from raw data to variant report) with machine learning-patented algorithms and intuitive features to detect, annotate and classify multiple types of variants in a single assay with a high level of accuracy. As a result, you can save time and effort in finding answers from complex and noisy genomic data sets, making data-driven decisions for a better care.
A universal health data analytics platform for a decentralized approach to healthcare
A universal health data analytics platform for a decentralized approach to healthcare

Spot causative variants with confidence


Efficient and precise variant detection is challenging due to the high levels of noise and biases (e.g., GC bias, sample contamination, sequencing and experimental noise), data heterogeneity and the “big data” nature of NGS. SOPHiA DDM™ helps you identify complex variants regardless of your experimental conditions. The platform’s pipelines are designed to adapt to the sample type, sequencer, enrichment kit and chemistry used in your lab. From target to exome-size NGS based-applications, we help you maximize your assay performance and reach a higher confidence in variant detection.

Gain the genomic insights you need


Variant interpretation still requires a significant amount of expertise and time. SOPHiA DDM™ offers a streamlined workflow to annotate, interpret and report relevant NGS variants, minimizing complexity, thus increasing efficiency of your decision-making process.

The platform features expert-designed and intuitive functionalities:
- User-friendly interface to explore genomic variants without bioinformatics expertise
- Wide ranges of databases (e.g, such as OMIM, ClinVar, GnomAD, ExAC, G1000, SIFT, MutationTaster) to reach a comprehensive variant annotation
- Machine learning- and ACMG-based pathogenicity ranking to confident classify variant
- Multiple filtering functionalities (e.g., Cascading filters, Familial Variant Analysis and Virtual Panel) to pinpoint the most relevant variants
- Jax-CKB integration through the OncoPortal to acquire therapeutic, diagnostic and prognostic insights for each variant
- Customizable variant reporting
Data pooling and knowledge sharing
A universal health data analytics platform for a decentralized approach to healthcare

Gather and share knowledge with your peers


NGS-based applications unveil a large number of variants that are not always clearly defined and classified by publicly available databases. Through the SOPHiA DDM™ platform, genomics experts worldwide interpret their findings and flag the pathogenicity level of variants based on their knowledge and experience. This highly valuable information enriches the variant knowledge base and is safely shared among the members of the community. As a consequence, you can evaluate whether your variant of interest has been seen before and how it has been classified by other experts. Flagging information greatly supports you in determining the pathogenicity of genomic variants, including the ones of unknown significance, thus facilitating your interpretation process.

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SOPHiA DDM™ for Oncology


Easily manage and efficiently explore your genomic data to characterize and report relevant alterations associated with solid tumors and hematological malignancies.
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SOPHiA DDM™ for Inherited Disorders


Quickly and accurately analyze the massive amount of data coming from your NGS-based applications (from targeted panels to whole exome) to identify variants associated with rare and inherited disorders.
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