The universal platform accelerating assessment of germline variants

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

HIGHLIGHTS

Ensuring advanced 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 Platform pulls information from a broad range of data bases 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.

For more information, please visit: www.interactive-biosoftware.com 

From targeted to exome applications

All types of variants detected in a single experiment

Supporting users without bioinformatics expertise

Easy and intuitive workflow

SOPHiA Platform offers a comprehensive workflow with efficient variant filtering strategies, enabling experts to manage the large number of data coming from NGS-based applications (from targeted applications to whole exomes) and easily identify the variant of interest, thus reducing the turnaround time.

  • 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.

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

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.

Filtering utility

KEY ADVANTAGES

• Focus only on relevant variants
• Streamline variant interpretation
• Shorten turnaround time