Universal platform accelerating assessment of germline variants

SOPHiA DDM is the platform of choice for clinicians performing genomic testing worldwide. Powered by SOPHiA AI, the platform guarantees clinical-grade analytical performance and facilitates data visualization and interpretation workflows. Thanks to SOPHiA clinicians can quickly and accurately identify variants associated with hereditary disorders.

HIGHLIGHTS

Ensuring clinical-grade analytical performance

SOPHiA DDM integrates SOPHiA, the AI democratizing Data-Driven Medicine, that detects, annotates and pre-classifies all types of genomic variants (SNVs, Indel and CNVs) in one unique experiment.

Access to SOPHiA's Community

In SOPHiA DDM, experts from hundreds of healthcare institutions interpret the results and flag the variants 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.

Keeping data safe and secure

Access to SOPHiA DDM is restricted to registered users only. All data is encrypted and stored at rest with replication across geographically separated and secure data centers.

Complete variant annotation and intuitive visualization

SOPHiA DDM pulls information from a broad range of databases allowing comprehensive annotation and visualization of genomic variants.

Alamut® Software Suite (stand-alone software) offers a comprehensive solution to the complex tasks of genomic variants annotation, filtration and exploration.

From small panels to exomes

All types of variants detected in a single experiment

Supporting users without bioinformatics expertise

Easy and intuitive workflow

SOPHiA DDM offers a comprehensive workflow with efficient variant filtering strategies, allowing clinicians to manage the large number of data coming from NGS-based applications (from small panels to exomes) and easily identify the variant of interest, increasing diagnostic yield.

  • Secure Login
  • Quick and simple data upload
  • Variant detection and pre-classification
  • Customized filtering options
  • Variant flagging
  • Variant report generation

Integrated features for efficient variant prioritization and interpretation

Virtual Panel

Limit the interpretation to a subset of genes based on patient’s phenotype.

Variant Filter Builder

Create custom filtering strategies for quicker screening of relevant variants.

Familial Variant Analysis
(trio analysis)

Quickly identify causative variants by selecting different inheritance modes with a single mouse click and shortening the candidate variant list accordingly.

Dual variant pre-classification
(ACMG score and SOPHiA’s prediction)

Pre-classify variants according to both ACMG guidelines and SOPHiA’s prediction to offer a complete set of information to clinicians for improved assessment of variants pathogenicity.

Clinical utility

KEY ADVANTAGES

• Focus only on relevant variants
• Increase diagnostic yield
• Shorten turnaround time