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.

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Overview Key Features Workflow Analytics Applications Resources

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.

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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™ Community Myeloid Solution v2

Targets variants in 94 full genes and enables partner-agnostic fusion calling across 28 genes from a single DNA-based workflow. Supports detection of SNVs, Indels, CNVs, ITDs, PTDs, and chromosomal aberrations including trisomies, monosomies, and long arm deletions. Ideal for labs looking to maximize their resources and time.

SOPHiA DDM™ Extended Myeloid Solution

Capture-based application targeting 98 full genes associated with leukemia, MDS, MPNs, and related disorders. Designed for high-throughput labs seeking broad genomic coverage. Compatible with SOPHiA DDM™ Blood Cancers Plus for RNA-based detection of 118 known fusion pairs.

SOPHiA DDM™ Community Myeloid Solution 51 genes

Flexible DNA-based application covering 51 expert-curated genes, including 28 at full CDS. Can be integrated with SOPHiA DDM™ Blood Cancers Plus for RNA-based detection of 118 known fusion pairs.

SOPHiA DDM™ Dx Myeloid Solution (CE-IVD)

CE-IVD certified application targeting key mutational hotspots across 30 genes associated with myeloid neoplasms. Optimized for routine clinical workflows to support data-driven therapeutic decisions. An ideal solution for labs seeking an accredited application focused on high-impact variants.

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.

Assess variants in challenging regions

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).

Pinpoint fusion events with precision

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.

Rely on guideline‑driven gene content

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.

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. Our proprietary, junction-based algorithm CARDAMOM ensures reliable identification of prevalent fusions, BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.

Technology Principles

SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN® molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.

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™.

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APPLICATIONS

Focus on your targets of interest

Enhance your myeloid malignancies workflow to focus on the biomarkers that matter most or develop a high-quality application with help from our team of experts.

Featured Applications

	SOPHiA DDM™ Community Myeloid Solution	SOPHiA DDM™ Extended Myeloid Plus Solution (ExtMYS+)	SOPHiA DDM™ Community Myeloid Plus Solution 51 genes (CMYS-51+)	SOPHiA DDM™ Dx Myeloid Solution (DxMYS)
No. genes	94 genes, full CDS	98 genes, full CDS	51 genes, 28 full CDS	30 genes, 10 full CDS
Fusion calling	28 genes (∞ fusion partners)	118 fusion pairs (predefined fusion partners)	118 fusion pairs (predefined fusion partners)	Not available
Sample Type	Blood and bone marrow	Blood and bone marrow	Blood and bone marrow	Blood
Recommended Input Amount	50 ng DNA	50 ng DNA + 500 ng RNA	50 ng DNA + 500 ng RNA	200 ng DNA
Sequencer Compatibility	Illumina NextSeq®	Illumina NextSeq®	Illumina MiniSeq® Illumina MiSeq® Illumina NextSeq®	Illumina MiSeq® (for CE-IVD purposes)
Detected Variants & Biomarkers	• SNVs • Indels • CNVs • FLT3 IDTs • KMT2A PDTs • DNA gene fusions • Chromosomal aberrations • Visual inference of LoH*	• SNVs • Indels • CNVs • FLT3 IDTs • KMT2A PDTs • RNA gene fusions	• SNVs • Indels • CNVs • FLT3 IDTs • KMT2A PDTs • RNA gene fusions	• SNVs • Indels • CNVs • FLT3 IDTs