SOPHiA Myeloid Solution
Expand the scope of myeloid neoplasms management
SOPHiA Myeloid Solution is a ready-to-use genomic application, designed to empower clinical researchers to make better-informed decisions in the assessment of different blood cancer disorders.
The application combines a capture-based target enrichment kit with the advanced analytical capabilities of the SOPHiA DDM™ platform, providing high-quality and reproducible data through a streamlined workflow from sample to report.
This comprehensive solution accurately covers 30 genes associated with myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia.
Through a streamlined, customizable, and scalable NGS-based workflow, SOPHiA Myeloid Solution reduces turnaround time and improves the efficiency of assessing complex variants associated with different blood cancers.
Highlights
- Ready-to-use target enriched library in just 2 days
- Data analysis from FASTQ files in as little as 4 hours
- Uniform coverage of DNA alterations (e.g., CALR, CEBPA, ASXL1, FLT3, including internal tandem duplications) aligned with recent guidelines
- Accurate detection and annotation of challenging variants, such as SNVs, Indels, CNVs, fusions, FLT3 internal tandem duplications in one unique experiment
- Streamlined interpretation with the SOPHiA DDM™ intuitive variant filters, algorithm-supported variant classification, and access to:
- OncoPortal™ to obtain the latest scientific evidence on all the relevant variants
- One of the largest networks of connected healthcare institutions to gain and share knowledge on relevant variants
We were able to remove recurring artifacts and PCR errors. The solution correctly called Indels and large deletions, which were incorrectly identified by a previous pipeline, and we gained the ability to detect large insertions in FLT3 without using additional tools – this made the move a no-brainer.
Specifications
| Parameters | Myeloid Solution |
|---|---|
| Addressed Diseases | Myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia |
| Covered Genes | 30 genes (10 with complete coding sequences.) Panel: ABL1, ASXL1, BRAF, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2, KIT KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1, ZRSR2 |
| Key Biomarkers | CEBPA, ASXL1, CALR, FLT3 including internal tandem duplications |
| Starting Material | 50 ng DNA |
| Sample Type | Blood and bone marrow |
| Sequencer Compatibility |
|
| Total Library Preparation Time | 2 days |
| Analysis Time From FASTQ | From 4 hours |
| Detected Variants | SNVs Indels CNVs FLT3 internal tandem duplications |
Dedicated features to ease variant interpretation
The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline the interpretation process and greatly reduce turnaround time.
- Virtual Panels to limit the interpretation to a subset of genes
- Cascading Filters to enable user-created custom filtering strategies for quicker identification of relevant variants
- OncoPortal™ to support decisions based on the Jax-CKB™, CAP, ASCO, AMP and other data sources
Resources
Webinars
Difficult genes in myeloid panels
Join our bioinformatics experts to discover how we help you assess difficult genes in myeloid panels.
Blog
Difficult genes in myeloid panels
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