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Genetically inherited diseases are both widespread and diverse, yet they share a common need for comprehensive answers. SOPHiA DDM™ and Alamut™ Visual Plus are uniquely positioned to expedite the identification of complex variants associated with any hereditary disorder in any lab, regardless of chemistry, sequencer, or dataset size.
SOPHiA DDM™ for Inherited Disorders is a comprehensive portfolio of cutting-edge applications that accelerate the analysis of complex genomic variants associated with inherited diseases.
Combined with Alamut™ Visual Plus for visualization, in-depth annotation, and interpretation, the powerful algorithms of SOPHiA DDM™ transform extensive genomic data into actionable insights.
Streamline setup and quickly find answers for individuals with genetically inherited diseases with SOPHiA DDM™ end-to-end workflows. Accurately assess complex variants with a range of ready-to-use and customizable NGS-based applications and community solutions developed and tested by genomic experts.
“Through the SOPHiA DDM™ Nephropathies Solution and bioinformatic capabilities of the SOPHiA DDM™ Platform, we can process a large number of samples in a simple way and simultaneously identify both point mutations and deletions/duplications (CNVs) in all genes included in the panel to gain exhaustive insights.”
Rely on robust sequencing across multiple applications using one automatable protocol.
Access ABCD variant ranking, virtual panels, filters, HPO scoring, and peer flagging.
Reveal previously overlooked variants with the Alamut™ Visual Plus full genome browser.
Clearly summarize key variants and supporting information in tailored reports.
Propel the identification of variants linked to genetically inherited diseases with the chemistry and technology-agnostic SOPHiA DDM™ Platform. Leverage AI-driven algorithms and the shared knowledge within the SOPHiA GENETICS community, while also joining disease-specific peer networks to generate collective insights.
Sensitive SNV and Indel detection
Accurate CNV calling
Efficient star allele calling
Robust variant annotation
Smart variant prioritization
The sophisticated SNV and Indel calling algorithm, PEPPER™, differentiates true signal from noise specific to each sample type, library prep chemistry, and sequencer. The algorithm allows, for instance, the detection of a 4,977 bp-long deletion associated with several inborn disorders, including the Kearns-Sayre Syndrome (KSS).
The proprietary copy number variation (CNV) calling algorithm, MUSKAT™, adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. The algorithm accurately detects CNVs across challenging genes like DMD.
The robust variant annotation algorithm, MOKA™, retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at support@sophiagenetics.com to obtain the appropriate product information for your country of residence.
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