Accelerating the assessmentof germline variants

SOPHiA Platform is the technology of choice for clinical researchers performing genomic testing worldwide. The platform guarantees advanced analytical performance and facilitates data visualization to support the experts’ interpretation. This enables genomic experts to quickly and accurately identify variants associated with hereditary disorders.

HIGHLIGHTS

Achieve advanced analytical performance

SOPHiA analyzes complex NGS data by detecting, annotating and preclassifying SNVs, Indels, and CNVs in one single experiment.

 

Access to SOPHiA's Community

In the platform, experts from hundreds of healthcare institutions analyze the results and flag the pathogenicity level of variants according to their knowledge and experience. This highly valuable information feeds the variant knowledge base and is anonymously and safely shared among the members of the community.

Ensure Data Security

Access to the SOPHiA Platform 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 databases allowing comprehensive annotation and visualization of genomic variants.

Alamut® Software Suite (stand-alone software) offers an easy-to-use solution for the complex tasks of genomic variants annotation and exploration.

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

From targeted to exome applications

Multiple types of variants detected in a single experiment

No bioinformatics expertise needed

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 analysis to a subset of genes.

Cascading Filters

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 analysis
• Shorten turnaround time