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.

Sample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.

Specifications

Built to magnify myeloid discovery

Detect a broad spectrum of genomic alterations, from single-nucleotide to gene fusions and large structural variants, in a single, streamlined workflow. The SOPHiA DDM™ Community Myeloid Solution combines expertly curated content aligned with ELN, WHO, and NCCN guidelines, and the advanced analytics of the SOPHiA DDM™ Platform to deliver more meaningful myeloid insights, with less hands-on time and greater efficiency.

Expert-curated content – Adopt a solution tailored to the latest ELN, WHO, and NCCN recommendations, ensuring relevant and meaningful content.

Consolidated workflow – Accurately detect SNVs, Indels, and CNVs in 94 genes (full CDS), call DNA fusions in 28 genes, detect key chromosomal aberrations, and visually infer loss of heterozygosity (LoH)* in a single streamlined workflow.

Ultra-sensitive variant detection – Identify low-frequency variants with confidence (down to 2% VAF in routine analysis, and lower if needed) thanks to CUMIN® molecular barcoding technology.

Accurate CNV calling – Capture CNVs with precision leveraging our adaptive, double-normalization algorithm, MUSKAT™ optimized for myeloid malignancies and designed to minimize false positives while adapting to experimental variability.

Robust DNA fusion detection – Detect common, novel, and rare fusions directly from DNA and reduce reliance on RNA workflows, thanks to our sensitive, partner-agnostic fusion calling algorithm, CARDAMOM.

Optimized operational efficiency – Boost efficiency with verified automation scripts for Hamilton NGS STAR and Clinical STARlet platforms, and simplify in-house adoption through the expertly-guided SOPHiA DDM™ MaxCare Program.

Streamline your myeloid workflow

Whether you perform sequencing in-house or leverage SOPHiA DDM™ Integrated Access Mode to tap into a global network of sequencing labs, you maintain full control over your samples, insights, turnaround, and reanalysis time.

Thinking about bringing sequencing in-house? The SOPHiA DDM™ MaxCare Program ensures a seamless implementation process, with expert support, training, and guidance at every step of the way.

Uncover chromosomal aberrations

Detecting chromosomal aberrations with traditional assays like FISH and karyotyping requires time-consuming steps like cell culturing and staining. While cost-effective, their turnaround times often fall short for time-sensitive research. With the SOPHiA DDM™ Community Myeloid Solution you can now detect complex alterations directly from NGS data. Powered by MUSKAT™, our adaptive, double-normalization CNV calling algorithm, and comprehensive gene coverage, you can visualize copy number changes over key genomic regions linked to myeloid malignancies.

Common high-impact chromosomal aberrations in myeloid malignancies

Trisomies – Trisomy 8 is one of the most common chromosomal abnormalities in AML. It has been associated with poor prognosis and resistance to certain therapies.¹

Monosomies – Monosomy 7 occurs across a broad range of myeloid malignancies and is linked to adverse outcomes in both AML and MDS.²

Arm-level deletions – del(5q) deletion of the long arm of chromosome 5 — is a frequent copy number alteration in AML. It is strongly associated with poor prognosis and therapy resistance.³

Built-in intelligence for high-confidence fusion calls – Our fusion calling algorithm, CARDAMOM, enables the highly specific DNA-based detection of fusion events, even when one fusion partner is unknown. This expands the potential to uncover novel or rare fusions often missed by other technologies.

Fusions are only reported when they meet strict probabilistic thresholds and are supported by relevant genomic context, helping reduce false positives and increase confidence in the results.

For enhanced precision and relevance, our solution covers both fusion partners for the most relevant, guideline-informed fusions to maximize sensitivity while keeping the potential for discovery high.

Powerful insights, intuitive interface – Visualize and interpret complex alterations directly in the new generation of the SOPHiA DDM™ Platform.

• Virtual Panels: Focus on relevant genes using HPO/OMIM® filters
• Enhanced Tertiary Annotation: Streamline variant interpretation with point-based ACMG classification, zygosity annotation, expanded variant catalogs, among other updates
• Simplified CNV analysis: Navigate large-scale events with ease
• SOPHiA GENETICS™ Community-driven insights: Access collective variant knowledge from global experts
• OncoPortal™ Knowledge Base: Match variant profiles to clinical associations and available clinical trials powered by Genomenon Cancer Knowledgebase

Documents

• Fact Sheet: SOPHiA DDM™ Community Myeloid Solution
• Flyer: SOPHiA DDM™ Community Myeloid Solution
• Flyer: SOPHiA DDM™ for Myeloid Malignancies – Key Targeted Applications

Ordering Information

For Research Use Only. Not for use in diagnostic procedures.