SOPHiA Myeloid Solution

Expand the scope of myeloid neoplasms management

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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.

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    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.

    Olena Kis, PhD

    Associate Director, Molecular Pathology

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    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
    • Illumina MiSeq® kit v3 (2x300bp)
    • Illumina MiSeq® kit v2 (2x250bp)
    • Illumina NextSeq® 500/500 Mid Output kit v2 (2x150bp)
    • Illumina NextSeq® 500/500 High Output kit v2 (2x150bp)
    • Ion Proton™ System Ion 540™ kit
    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
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    Webinars

    Robust CNV detection using whole exome sequencing for complex cases

    Difficult genes in myeloid panels

    Join our bioinformatics experts to discover how we help you assess difficult genes in myeloid panels.

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    Blog

    Robust CNV detection using whole exome sequencing for complex cases

    Difficult genes in myeloid panels

    More than six people die every hour in the US from a blood cancer. Solutions can’t come fast enough for those who suffer with these cancers all around the world.
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    Want to know more?
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