Alamut Visual Plus

Alamut™ Visual Plus, developed by SOPHiA GENETICS, is a variant interpretation and visualization software designed for genetic research laboratories, geneticists, bioinformaticians, and clinical specialists working with complex genomic data. It enables users to pinpoint and visualize pathogenic mutations within their full genomic context, helping to conclude challenging cases with confidence and speed.

As an add-on module to the SOPHiA DDM™ platform — or as a stand-alone software — Alamut™ Visual Plus streamlines tertiary analysis workflows by connecting users to curated databases, prediction tools, and enhanced visualization capabilities. Trusted by laboratories worldwide and backed by over 1,500 citations, it supports evidence-based variant classification across a broad range of applications including rare disorders, inherited diseases, cancer, and pharmacogenomics.

Comprehensive Variant Annotation

• ACMG point-based classification with evidence strength filtering to support guideline-driven variant assessment
• Backed by literature and international guidelines, including Mastermind®, PubMed®, and HGVS nomenclature
• Variant annotation drawn from more than 55 renowned databases, including ClinVar, dbSNP, BRIDGES, COSMIC, and dbVar
• Missense and splice variant predictors including REVEL, MaxEntScan, PolyPhen-2, and NNSPLICE (BDGP)

Enhanced Variant Visualization

• Comprehensive full-genome browser that reveals previously overlooked variants
• Support for GRCh37/38 assemblies and mitochondrial genome visualization
• Structural variant track including copy number variation (CNV) analysis
• Displays flanking regions and overlapping genes for deeper genomic context
• Viewers for BAM, VCF, BED, and Sanger file formats
• Simultaneous exploration of multiple genes within a single session

Efficient Laboratory Workflows

• Seamlessly integrates as an add-on into any existing tertiary analysis workflow
• Direct link from SOPHiA DDM™ for streamlined access
• Dynamic variant filtering to rapidly narrow down clinically relevant findings
• Customizable reporting to meet laboratory-specific requirements
• Data management capabilities to support organized variant tracking

Variant History and Prioritization

• Associate variants with individual-specific HPO terms for patient-level context
• Track variant occurrences and history to support re-analysis over time
• Intuitive visualization combined with integrated annotation and splicing prediction to support interpretation of complex variants

Supported Applications

• Rare Disorders: Accurately detect and prioritize pathogenic variants associated with rare disease
• Inherited Disorders: Uncover genomic drivers of inherited cardiovascular, metabolic, neurologic, and pediatric diseases
• Cancer: Evaluate predisposition to hereditary cancers and characterize hematological malignancies and solid tumors
• Pharmacogenomics: Quickly discover variants associated with pharmacogenetics from complex genomic data

Alamut™ Visual Plus is available as a stand-alone software or accessed directly through the SOPHiA DDM™ platform, offering flexible deployment to suit diverse laboratory environments. It is compatible with leading sequencers and secondary and tertiary analytics pipelines. SOPHiA GENETICS products are for Research Use Only unless otherwise specified; select SOPHiA DDM™ Dx solutions carry CE-IVD marking for in vitro diagnostic use in applicable regions.