SOPHiA DDM™ | PentaGen

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More detailed product information

The SOPHiA DDM™ Platform uses machine learning with patented algorithms to efficiently call, annotate, and pre-classify variants from raw NGS data. User-friendly features streamline prioritization, simplify interpretation, and expedite reporting.

SOPHiA DDM™ is a cloud-native AI SaaS platform for the analysis, standardization, and interpretation of multimodal healthcare data.

The platform is a global data sharing network based on a comprehensive database of variants with a history of more than a decade. In addition, platform users are members of the global SOPHiA GENETICS community, which includes more than 750 institutions.

The platform offers e.g.:

Automatic preclassification of variants according to its own algorithm and ACMG classification
Comprehensive annotation with up-to-date information from >55 world-renowned curated databases, guidelines, and predictors
Connection to Alamut™ Visual Plus for Rare and Inherited Diseases – Variants are visualized in a comprehensive full genome browser
Connection to OncoPortal™ Plus for Oncology – Molecular profiles are matched to therapeutic, diagnostic, and prognostic clinical associations
Multiple filtering functionalities to focus on disease-specific variants, create custom filtering strategies, and/or filter by inheritance mode
Predictions of the functional significance of variants
SOPHiA GENETICS Community insights further support variant exploration
Duo-/Trio- familial variant analysis

The SOPHiA DDM™ platform is currently available as a cloud-based application or as a web-based application now called SOPHiA DDM™ Dx mode.

New: SOPHiA DDM™ Dx mode is officially CE-IVDR certified for CE-IVD applications.

For more information, please contact us by e-mail: diagnostika@pentagen.cz