Accelerated interpretation of exome sequencing data with SOPHiA DDM™ and Alamut™ Visual Plus

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At SOPHiA GENETICS we aim to bring clarity to
 rare and inherited disease analysis.

The combination of SOPHiA DDM™’s advanced exome analytics with the variant interpretation and visualization capabilities of Alamut™ Visual Plus provides you with a comprehensive understanding of your variants.

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5 easy steps from data to report

Step 1: Alignment and variant calling

Pipelines optimized to your sample type, chemistry, enrichment kit, and sequencer

Single- or multi-sample (trio) analysis

Advanced accuracy across multiple variant types in a single experiment, including CNVs

High sequence coverage uniformity even in complex and GC-rich regions

Detailed quality metrics

Step 2: Dynamic filtering

Virtual Panels automatically select genes associated with specific diseases through integrated databases

Familial Variant Analysis displays variants in each family member in SOPHiA DDM™, with the option to filter according to inheritance mode

Cascading Filters allow custom strategies to be set up in a few clicks using filters such as variant classification scans

Step 3: Enhanced annotation and visualization

Comprehensive annotation with up-to-date information from >55 world-renowned curated databases, guidelines, and missense and splicing predictors

Variant exploration on a genomic scale in a comprehensive, full genome browser

Visualization of variants in GRCh37/38 assemblies and the mitochondrial genome, displaying flanking regions and overlapping genes

Step 4 : Variant Confirmation

Intuitive user-friendly interface

Sanger sequencing and BAM read alignment tracks

Supporting database tracks on the genome browser

Step 5 : Reporting

User-driven templates for customization

User friendly

Guideline-driven information for decision making

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Want to know more?
Get in touch with us.

Our client services team is on hand to help.