
Accurately detect and classify variants from complex oncology and rare & inherited disorder data, with information from curated databases and community insights empowering confident decision-making.
Vendor
SOPHiA GENETICS
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Achieve best-in-class accuracy for your genomic analysis
Accelerate confident decision-making in Oncology and Rare & Inherited Disorders with end-to-end genomics workflows for streamlined sequencing data analysis and interpretation. Reach accurate variant detection, simplified variant prioritization, and expedited reporting.
Overcome bottlenecks and increase confidence in your results
SOPHiA DDM™ is a leading IVDR-certified* genomics platform that leverages AI algorithms to accurately pinpoint signals within noisy, complex next-generation-sequencing (NGS) datasets. It seamlessly integrates into any genomics workflow to identify causative variants. *When used in Dx mode
Best-in-class accuracy
Detect challenging variants with high confidence using our AI/machine learning algorithms, which excel at calling complex and diverse variant types.
Universal compatibility
Effortlessly integrate our technology-agnostic analytical platform into your existing laboratory setup for any Oncology or Rare & Inherited Disorder application.
Accelerated workflows
Dramatically expedite your interpretation by removing genomic variant analysis barriers with the SOPHiA DDM™’s annotation and pre-classification capabilities.
From data to decisions, faster than ever
1. Data upload
Securely log in to our 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 needing deep bioinformatics expertise. Our somatic and germline pipelines are optimized for targeted to genome-sized applications and provide comprehensive annotation with up-to-date information from >55 world-renowned curated databases, guidelines, and predictors.
3. Prioritization and filtering
Leverage machine learning and guideline-driven ranking to automatically assign pathogenicity levels to identified variants. Through our user-friendly interface, easily apply multiple filtering functions to focus on disease-specific variants, create custom filtering strategies, and/or filter by inheritance mode.
4. Exploration and interpretation
Add context to your variant interpretation. Flag variants and share insights with your disease-specific peer network or the entire SOPHiA GENETICS Community. Enhance your interpretation with direct access to the add-on modules OncoPortal™ and Alamut™ Visual Plus, that provide deeper, more comprehensive insights into your findings.
5. Reporting
Easily generate customized reports using provided templates. Reports are CAP- and CLIA-compliant and include guideline-driven information to support decision making.