A comprehensive solution combining a capture-based enrichment kit and the SOPHiA DDM™ platform for advanced clinical exome analysis, featuring targeted enhancements to increase coverage in critical regions and detect complex variants in a single workflow.
Detailed Description
Operating Principle
A genomic application integrating a capture enrichment kit with the advanced analytical modules of the SOPHiA DDM™ platform. The solution expands the SOPHiA DDM™ Clinical Exome Solution v3 kit with targeted probes to boost coverage in critical genomic regions and dedicated algorithms that reliably detect hard-to-identify variants, all within a single test.
Clinical Applications
Specially designed to advance the study of rare and hereditary diseases, and to consolidate indications such as carrier screening and hereditary cancer into a unified workflow.
Benefits
Increases laboratory efficiency by consolidating multiple tests into one.Achieves sensitivities comparable to targeted panels in critical genomic regions.Reduces the complexity of genomic data interpretation with specific features through the use of dedicated software.
Intended Audience/User
Laboratories seeking an expanded clinical exome solution for multiple indications (rare/hereditary diseases, carrier screening, hereditary cancer) with advanced analytical capabilities and comprehensive support.
Key Features
Expanded coverage of the clinical exome + mitochondrial genome + ~200 relevant non-coding variants.
Specific enhancements for hereditary cancer (94 genes) and carrier screening (155 genes).
Proven analytical performance: SNV/Indel sensitivity 99.8%; precision 99.0%; >99% of on-target regions at >25×/>50× coverage.
Unified and efficient workflow with advanced interpretation tools: ACMG scoring, virtual panel generation, duo and trio analysis, and reporting.
Direct integration capabilities with Alamut™ Visual Plus.
Access to the SOPHiA Genetics community to securely and anonymously share knowledge among specialists.
Expert support and cloud storage: secure, unlimited storage following industrial encryption standards and restricted access control to empower the interpretation of challenging variants.
