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SOPHiA DDM™ for Rare Disorders

Turning raw genomic data into life-changing insights
Finding answers and creating hope for people with rare diseases across the globe.
OVERVIEW

Enlightening your rare disease genomics journey

Navigating the rare disease journey can be long and frustrating. On average, patients see more than 8 physicians over 5-7 years and receive 2-3 misdiagnoses before finding an answer.1 SOPHiA GENETICS is dedicated to transforming the rare disease journey by leveraging AI to decode complex genomic data faster.

Guiding you from data to answers

Comprehensive variant interpretation is made easy with the SOPHiA DDM™ analytical platform complemented by Alamut™ Visual Plus.
Time-saving variant prioritization and filtering followed by clear visualization of variants annotated with evidence from numerous databases, predictors, and publications enhances and simplifies the identification of clinically relevant variants.
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Profound impacts need precise results

Clinical Exome

Enlighten your rare disease journey with clinical exome solutions that detect complex variants with proprietary AI-driven algorithms that accurately distinguish the signal from noise.

Whole Exome

Propel your rare disease analysis with whole exome applications that efficiently classify and prioritize variants with algorithms trained with variants flagged by the SOPHiA GENETICS Community.

Whole Genome

Find answers from a vast universe of data with our fast and scalable whole genome application that enables you to analyze, visualize, and explore your genome results in a single workflow.
KEY FEATURES

Turning genomic data into life-changing insights

Find answers for individuals with complex phenotypes associated with rare diseases with our comprehensive portfolio of ready-to-use and customizable NGS-based applications. Rapidly pinpoint rare variants with the advanced analytic and interpretation capabilities of the SOPHiA DDM™ Platform complemented by Alamut™ Visual Plus.
Pinpoint pathogenic variants associated with rare diseases using analytically verified applications that harness proprietary algorithms trusted by leading rare disease genomics experts.
Bring your data analysis in house with universal workflows for multiple applications that enable you to safely maintain control of your samples and data.
Futureproof your rare disease genomics discovery with advanced analytics for any laboratory, from any size dataset, for all rare diseases.
WORKFLOW

Expand your rare disease analysis toolbox

Simplify your rare disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.
Flexible and scalable library preparation

Rely on robust sequencing across multiple applications using one automated protocol.

Comprehensive variant prioritization

Access variant ranking, virtual panels, and familial analysis.

Clear variant visualization

Reveal previously overlooked variants with the Alamut™ Visual Plus full genome browser.

Customizable reporting

Clearly summarize key variants and supporting information in tailored reports.

You won’t be left alone.
Enjoy comprehensive support at every step through the SOPHiA DDM™ MaxCare Program, making in-house adoption a breeze.
ANALYTICS

Decoding rare diseases, one variant at a time

Accelerate the identification of clinically relevant variants from the tens of thousands detected with SOPHiA DDM™.

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 preparation, and sequencer, in both nuclear and mitochondrial DNA. 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).
Technology Principles
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 pseudogene conversion module accurately assigns variants in genes such as PMS2/PMS2CL, SMNA1/SMNA2, CXP2D6/CYP2D7, and PKD1 to the active gene or inactive pseudogene.
Technology Principles
The accurate star allele calling algorithm, STAR ANISE, leverages the PharmVar database to resolve star allele haplotypes, providing metabolizer status annotations that confidently link genotypes to phenotypes. A specialized CYP2D6 analytical module calls star alleles alongside CNVs, SNVs, Indels, and gene conversion with the CYP2D7 pseudogene.
Technology Principles
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.
Technology Principles
ABCD Pathogenicity Prediction
The elegant ABCD variant prioritization approach leverages an AI-driven, community-powered variant classification algorithm to rank variants according to likelihood of pathogenicity.
Technology Principles

Integrated mitochondrial variant detection

In a single workflow, SOPHiA DDM™ pinpoints variants in mitochondrial DNA alongside those in key coding and non-coding regions of nuclear DNA. Sophisticated algorithms address the unique challenges associated with the mitochondrial genome, like high mtDNA copy number and heteroplasmy, to deliver precise variant insights.
Streamline raw genomic data analysis to precisely detect, annotate, and prioritize even the most complex blood cancer variants.

SOPHiA DDM™ for Rare Disorders

Your all-in-one rare disease companion
APPLICATIONS

Unlock endless possibilities with SOPHiA DDM™

Achieve streamlined and accurate variant detection and interpretation in a single experiment by combining SOPHiA DDM™’s advanced analytical capabilities with Alamut™ Visual Plus’ enhanced annotation and visualization, with the optimal exome or genome sequencing enrichment kit and sequencer for your lab.

Reference

  1. Lancet Diabetes Endocrinol. 2019 Feb; 7(2):75.

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 [email protected] to obtain the appropriate product information for your country of residence.

All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.

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