SOPHiA DDM™
for Myeloid Malignancies

Confidently identify the genomic drivers of myeloid malignancies
Leverage up‑to‑date NGS‑based applications and the analytical power of the SOPHiA DDM™ Platform to accurately characterize the complex mutational profile of myeloid tumors, accelerating the study of biomarkers and disease‑associated genes.
OVERVIEW 

Resolve complex variants in myeloid disease

Myeloid malignancies (MDS, MPN, AML, and CML among others) arise from highly heterogeneous and complex genomic mutations. Advanced molecular technologies, like next‑generation sequencing (NGS), are essential to generate an accurate molecular profile of each individual and obtain critical insights quickly.

Chart a course for better outcomes

The SOPHiA DDM™ Platform empowers experts with high‑quality, data analysis that enables easy variant detection, annotation, and classification for the study of myeloid malignancies.
Optimize the analysis of raw genomic data to rapidly and accurately identify biologically relevant variants, accelerating research and enhancing decision‑making.

Easily navigate complex analysis

SOPHiA DDM™ for Blood Cancers simplifies analysis of genomic drivers in hematological cancers using the trusted analytical performance and advanced features of the SOPHiA DDM™ platform.
Streamline raw genomic data analysis to precisely detect, annotate, and prioritize even the most complex blood cancer variants.

Identify challenging myeloid biomarkers

SOPHiA DDM™
Myeloid Plus Solution (MYS+)

The SOPHiA DDM™ MYS+ provides a streamlined workflow to analyze 30 genes associated with myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia, along with 118 gene fusions linked to leukemia.

SOPHiA DDM™
Dx Myeloid Solution (CE‑IVD)

The SOPHiA DDM™ Dx Myeloid Solution is an IVD application that identifies variants in 30 genes associated with myeloid neoplasms, targeting specific mutation‑prone positions within the genome to enable data‑driven therapy decisions.

SOPHiA DDM™
Extended Myeloid Solution (ExtMYS)

The SOPHiA DDM™ ExtMYS is a capture‑based application designed to assess 98 genes associated with leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms, and more.

SOPHiA DDM™
Community Myeloid Solutions

Our Community Myeloid Solutions are NGS‑based applications, developed with and for experts like you to accurately analyze fusion events and key myeloid markers relevant for your laboratory.
KEY FEATURES

Raise your analytical capabilities

Streamline your sample to report workflow with SOPHiA DDM™ for Myeloid Malignancies, including a comprehensive range of guideline‑driven, ready‑to‑use, and customizable NGS‑based applications to accurately define genomic profiles associated with myeloid diseases.
Leverage the optimized probe design and advanced analytical capabilities of the SOPHiA DDM™ Platform to detect challenging variants, such as tandem duplications in KMT2A and FLT3, long Indels in CALR and ASXL1, and variants in high GC regions, like exon 1 of CEBPA (over 80% GC‑content).
Detect confidently fusion genes, with our comprehensive DNA and RNA workflows. Identify known and novel rearrangements involving key target genes, as ABL1, CBFB, RUNX1, and PML.
Follow the latest ELN and NCCN guidelines with expertly‑curated gene content to ensure no challenging biomarkers are missed.
WORKFLOW

Navigate genomic profiling with ease

Accelerate your myeloid disease analysis with a simple, adaptable and accurate workflow.
Flexible and scalable library preparation

Use one universal, automated protocol for robust sequencing across applications.

Accurate variant detection and annotation

Analyze SNVs, Indels, CNVs, ITDs, PTDs, and gene fusions with confidence.

Advanced variant interpretation

Match cancer genomic profiles to the most up-to date information with OncoPortal™ Knowledge Base.

Customizable reporting

Quickly prepare comprehensive reports adapted to your needs.

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

Accurate variant analysis

Leverage the advanced analytics capabilities of SOPHiA DDM™, powered by AI, to gain deep insights into myeloid malignancies. Our proprietary algorithms enable precise molecular characterization, driving informed data‑driven decisions.
Accurately identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) associated with  myeloid malignancies, even in challenging samples. PEPPER™ is a sophisticated algorithm that differentiates true signal from noise, providing you with reliable results to guide decision‑making. Notably, our algorithm enables detection of internal tandem duplications (ITDs) in FLT3 as long as 300 bp.
Technology Principles
Gain crucial insights into the genomic alterations driving myeloid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and employs double normalization to identify CNVs with a single‑exon resolution, which may be overlooked by other tools. Additionally, it facilitates the detection of partial tandem duplications in the KMT2A gene.
Technology Principles
Assess fusion events from DNA for a large range of fusion partners reaching comprehensive detection of fusion genes relevant to myeloid malignancies. CARDAMOM ensures reliable identification of prevalent fusions including BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.
Technology Principles
Confidently interpret the clinical significance of genomic variants in myeloid malignancies with MOKA™. 
Our robust annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.
Technology Principles

Data‑driven decision support

Match cancer molecular profiles with the latest information to identify actionable biomarker profiles and confidently determine next steps in your research journey with our add‑on module, OncoPortal™ Knowledge Base.

SOPHiA DDM™ for Myeloid Malignancies

Accurately characterize complex biomarkers with SOPHiA DDM™.
APPLICATIONS

Select the right solution for your lab

Our comprehensive portfolio offers a range of ready‑to‑use and customizable solutions that enable precise characterization of genes associated with myeloid malignancies, targeting key variants from blood or bone marrow samples.

Community Solutions for Blood Cancers

Accelerate your analysis with expertly‑designed NGS‑based applications.

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.

SOPHiA DDM™ Overview
Unlocking Insights, Transforming Healthcare
Learn About SOPHiA DDM™ 
SOPHiA DDM™ for Genomics

Oncology 

Rare and Inherited Disorders

Add-On Modules

SOPHiA DDM™ for Radiomics
Unlock entirely novel insights from your radiology images
Learn About SOPHiA DDM™ for Radiomics 
SOPHiA DDM™ for Multimodal
Explore new frontiers in biology and disease through novel insights
Learn About SOPHiA DDM™ for Multimodal
Professional Services
Accelerate breakthroughs with our tailored enablement services
Learn About our Professional Services