SOPHiA DDM™ for 
Whole Genome Sequencing

From hidden depths to life-changing insights
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A unified workflow from data to discovery

Find answers from the depths of your data with a powerful, accurate application that lets you analyze, visualize, and explore genome results in one streamlined workflow.

SOPHiA DDM™ for Whole Genome Sequencing (WGS) combines rapid, scalable computing with advanced analytics to detect complex variants and support confident interpretation.

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All-in-one workflow

One pipeline for secondary and tertiary analysis, delivering comprehensive detection and streamlined interpretation.

Robust variant prioritization
Variants are ranked using AI-, phenotype-based classification, and ACMG guidelines, helping you focus on the most relevant results.
Accelerated data processing

NVIDIA GPUs power heavy workloads, with parallel samples run on Microsoft Azure nodes for fast, scalable genome analysis.

Streamlined variant interpretation
Quickly interpret results with extensive variant annotation complemented by time-saving filtering and visualization capabilities.
Comprehensive variant detection
Robust CYP2D6 assessment

Dedicated AI agents detect constitutional and mosaic variants in genomic and mitochondrial DNA, including SNVs, CNVs, RoH, and SVs.

Collaborative genomics community
Benefit from community-shared pathogenicity insights while maintaining strict data privacy and security standards at every step.

Streamline your variant detection and analysis workflow

Boost lab efficiency with a single streamlined FASTQ-to-report workflow. All variant detection and interpretation steps are powered by the SOPHiA DDM™ Platform, giving you full control over your data and samples.

Easy library preparation and capture
  • 146 gene panel focused on actionability, curated by MSK experts and selected from MSK’s cancer genomic profiling assay, MSK-IMPACT®
  • Hybridization-based capture with deep sequencing (~20,000x)
  • Tailored probes for high on-target rate and coverage uniformity
  • Minimal input amount of only 20 ng cfDNA
  • Ready-to-sequence libraries in just 1.5 days
  • Optimized multiplexing of paired tumor-normal samples for a cost-effective process
  • Compatible with NovaSeq™ 6000 and NextSeq® 2000 sequencers
Advanced analysis with the SOPHiA DDM™ Platform
  • Algorithm-powered detection of SNVs, Indels, CNV, and fusions
  • Proprietary unique molecular identifier (UMI) technology, CUMIN™, for sensitive variant detection down to 0.5% VAF
  • Tumor-informed variant calling to facilitate follow-ups and decision-making
  • Tertiary analysis based on the latest scientific evidence on relevant variants with OncoPortal™ Plus​
  • Access to MSK’s Precision Oncology Knowledge Base, OncoKB™, via link-out at gene level for enhanced interpretation support
  • Knowledge-sharing within SOPHiA GENETICS Community, one of the largest networks of connected healthcare institutions
You won’t be left alone.
Enjoy comprehensive support at every step through the SOPHiA DDM™ MaxCare Program, making in-house adoption a breeze.

Exploring every layer

SOPHiA DDM™ for WGS uncovers the full landscape of genomic variation with high sensitivity and precision. From structural variants and RoH to CNVs and mitochondrial changes, integrated signal analysis ensures reliable detection across every layer of the genome.

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Whole Genome Sequencing ESHG poster

Mountains of data, expertly traversed

SOPHiA DDM™ streamlines tertiary analysis by unifying diverse annotation sources, applying updated ACMG guidelines, and leveraging community knowledge for variant interpretation. Robust, phenotype-driven prioritization ensures the most relevant variants are ranked with accuracy and efficiency, while intuitive visualization supports clear interpretation of results.

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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 to obtain the appropriate product information for your country of residence.

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SOPHiA DDM™ for Genomics

Oncology 

Rare and Inherited Disorders

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