SOPHiA DDM for Genomics

SOPHiA DDM™ for Genomics is a leading IVDR-certified AI-powered genomics platform developed by SOPHiA GENETICS, designed to accelerate confident decision-making in Oncology and Rare & Inherited Disorders. By leveraging advanced AI and machine learning algorithms, the platform delivers best-in-class accuracy for next-generation sequencing (NGS) data analysis, enabling precise variant detection, simplified variant prioritization, and expedited reporting across a wide range of clinical applications.

The platform is built for oncologists, pathologists, geneticists, lab technicians, and bioinformaticians who require an end-to-end genomics workflow that seamlessly integrates into any existing laboratory setup. SOPHiA DDM™ for Genomics supports applications spanning solid tumors, blood cancers, hereditary cancers, liquid biopsy, rare disorders, and inherited disorders, making it a comprehensive solution for both clinical diagnostics and research use.

Key Capabilities

• Best-in-class accuracy: AI and machine learning algorithms excel at calling complex and diverse variant types, enabling high-confidence detection of challenging variants from noisy, complex NGS datasets.
• Universal compatibility: The technology-agnostic analytical platform integrates effortlessly into any existing laboratory setup, supporting any oncology or rare and inherited disorder application regardless of sequencer, enrichment kit, or chemistry.
• Accelerated workflows: Annotation and pre-classification capabilities remove genomic variant analysis barriers, dramatically expediting interpretation and reducing turnaround times.
• Comprehensive annotation: Somatic and germline pipelines are optimized for targeted to genome-sized applications and provide comprehensive annotation drawing on information from more than 55 world-renowned curated databases, guidelines, and predictors.
• Guideline-driven variant prioritization: Machine learning and guideline-driven ranking automatically assign pathogenicity levels to identified variants, with user-friendly filtering functions to focus on disease-specific variants, custom filtering strategies, and filtering by inheritance mode.
• Community-powered insights: Users can flag variants and share insights with disease-specific peer networks or the broader SOPHiA GENETICS global community for collaborative, knowledge-driven interpretation.
• Customizable, compliant reporting: Easily generate customized reports using provided templates that are CAP- and CLIA-compliant and include guideline-driven information to support clinical decision-making.

End-to-End Workflow

1. Data upload: Securely log in to the cloud-based platform with 2-step verification, quickly upload FASTQ files, and select from performance pipelines tailored to sample type, chemistry, enrichment kit, and sequencer.
2. Variant calling and annotation: Assess multiple variant types within a single experiment without requiring deep bioinformatics expertise, using optimized somatic and germline pipelines with comprehensive, up-to-date annotation.
3. Prioritization and filtering: Leverage machine learning and guideline-driven ranking to automatically assign pathogenicity levels, and apply multiple filtering functions through a user-friendly interface.
4. Exploration and interpretation: Utilize robust AI-powered algorithms to derive deep insights from complex data, with direct access to add-on modules OncoPortal™ and Alamut™ Visual Plus for deeper, more comprehensive findings.
5. Reporting: Generate customized, compliance-ready reports using provided templates that include guideline-driven information to support decision-making.

Deployment Options

• Dry Lab: Process samples with in-house consumables and instruments, then analyze data securely with the SOPHiA DDM™ Platform for rapid, community-powered insights.
• Bundle: Achieve precise results with SOPHiA DDM™ sample-to-report applications, including library preparation consumables and tailored analytics for streamlined workflows.
• Integrated: Connect with certified sequencing partners through SOPHiA DDM™ Integrated Access Mode, while maintaining full control of data uploaded to the platform for analysis.

Security, Scalability, and Compliance

• SOPHiA DDM™ is CE marked under IVDR, validating its analytical capabilities for supporting patient diagnostics in the EU and beyond when used in Dx mode.
• The platform adheres to the highest standards of data privacy and cloud security, with full compliance to IVDR, HIPAA, GDPR, and ISO/IEC 27001, 27017, and 27018.
• A modular, web-based platform architecture enhanced by NVIDIA GPUs enables seamless adaptation to new technologies and increasingly larger datasets, providing unrestricted scalability.
• Users benefit from access to one of the largest global networks of healthcare institutions for secure and anonymous peer knowledge sharing.

SOPHiA DDM™ for Genomics is available in multiple CE-IVD configurations for in vitro diagnostic use across the EEA, United Kingdom, Switzerland, and select additional markets, with specific solutions including the Dx Hereditary Cancer Solution, Dx RNAtarget Oncology Solution, Dx Homologous Recombination Deficiency Solution, Dx Myeloid Solution, and Dx Solid Tumor Solution. Other configurations are available for Research Use Only.