SOPHiA GENETICS Hereditary Cancer Solutions

Confidently assess genetic variants predisposing to cancer

SOPHiA GENETICS Hereditary Cancer Solutions are NGS-based applications that enable you to accurately characterize the complex mutational landscape associated with major hereditary cancer disorders.

All the solutions have been conceived to overcome sequencing bias, maximize performance, combining an expertly designed capture-based target enrichment kit with the analytical capabilities and interpretation-support functionalities of the SOPHiA DDM™ platform. Our pre-designed applications help you increase the efficiency of your laboratory, offering an end-to-end approach (from sample to variant report) to turn high-quality data into valuable insights.

Ready-to-sequence target enriched library in just 1.5 days

Optimized automation protocols for a variety of liquid handling robots to support high-throughput analyses

Customizable content to meet your specific research laboratory needs

Accurate detection and annotation of challenging variants, including SNVs, long Indels and CNVs in a single assay

Streamlined interpretation through intuitive variant filters, machine learning-based variant classification (complementing the ACMG ranking), and access to one of the largest networks of connected healthcare institutions to gain and share knowledge on relevant variants

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Product Details

Automated Workflow to increase your productivity

HCS can be coupled with leading liquid handling robots for a fully automated library preparation. As a result, you can benefit from a standardized workflow, that provides high quality libraries for reliable sequencing while also increasing sample throughput and decreasing required hands-on time to as little as 1.45 hours.

 

    SOPHiA Hereditary Cancers Solutions Screenshot

    Performance
    measurement

    Observed

    Lower 95% CI

    Sensitivity 100% 99.20%
    Specificity 100% 99.99%
    Accuracy 100% 99.99%
    Precision 99.86% 96.42%
    Repeatability 99.98% 99.98%
    Reproducibility 99.93% 99.93%

    Values have been calculated for SNVs and Indels only from a total of 159 samples processed on MiSeq®

    Deeply assessed to not miss any variant

    The SOPHiA GENETICS Hereditary Cancer Solution (HCS) accuracy has been assessed through a multicenter performance evaluation study on 159 samples with 373 unique variants coming from 7 sequencing centers. The study showed:

    • High on-target rates and coverage uniformity
    • High-confidence calling of SNVs, Indels and CNVs in all genes of the panel
    • Reliable detection of complex variants, such as Alu insertions
    • PMS2 and PMS2CL variants

    Dedicated features to ease variant interpretation

    The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline the interpretation process and help you significantly reduce turnaround time.

     Dual Variant Pre-classification to improve assessment of variants pathogenicity based on both ACMG scores and our machine learning predictions
     Virtual Panels to restrict the interpretation to sub-panels of genes using the HPO or OMIM browser
     Cascading Filters to apply custom filtering options for quicker screening of relevant variants and save strategies for future analyses

    Through SOPHiA DDM™, you can also have access to Alamut™ Visual Plus, a fullgenome browser that integrates numerous curated genomic and literature databases, guidelines, missense and splicing predictors, thus enabling a deeper variant exploration.

    SOPHiA Hereditary Cancers Solutions Shower
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    Specifications

    Parameters SOPHiA HCS Panel HCS Community panels
    Diseases Covered Hereditary Breast and Ovarian Cancer (HBOC), Lynch and various intestinal polyposis syndromes Breast, ovarian, Prostate, Lynch Syndrome, polyposis, rare CRC syndromes, gastric, pancreatic, cutaneous tumors, melanoma, non-melanoma skin cancer, renal, thyroid, neuroendocrine, nervous system, fanconi anemia, sarcoma*
    Genes 26 + PMS2CL 37 + PMS2CL 66 143
    Target Region Size 105 kb 92 kb 222 kb 405 kb
    Sample Type Blood Blood Blood Blood
    DNA Input Amount 200 ng 200 ng 200 ng 200 ng
    Sequencer Compatibility
    • Illumina MiniSeq™
    • Illumina MiSeq®
    • Illumina NextSeq® 500/550
    • Thermo Fisher Scientific: Ion Proton™
    • Thermo Fisher Scientific: Ion S5™
    • Illumina MiSeq®
    • Illumina MiSeq®
    • Illumina NextSeq®500/550
    Library Preparation Time 1.5 days 1.5 days 1.5 days 1.5 days
    Analysis Time From FASTQ 4 hours 4 hours 4 hours 4 hours
    Detected Variants
    • SNVs
    • Indels
    • CNVs
    • Alu insertions
    • PMS2 vs PMS2CL variants
    • Boland inversion
      • SNVs
      • Indels
      • CNVs
      • Alu insertions
      • PMS2 vs PMS2CL variants
        • SNVs
        • Indels
        • CNVs
        • Alu insertions
        • Boland inversion
          • SNVs
          • Indels
          • CNVs
          • Alu insertions
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            Contact us

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