SOPHiA Homologous Recombination Solutions

Broaden your HRR deficiency detection capabilities 

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The evaluation of the HRR status has become a key element of the oncologist’s arsenal to reveal the sensitivity to targeted PARP inhibitors (PARPi), a cancer therapy targeting poly (ADP-ribose) polymerase, and assess both disease predisposition and prognosis.

To avoid missing potential homologous recombination repair (HRR) deficient samples, an increased number of labs expand the focus beyond BRCA and explore multiple variant types, including CNVs.

SOPHiA GENETICS solutions enable accurate analysis of the HRR status, covering up to 16 genes involved in the HRR pathway and encompassing SNVs, indels, as well as CNV screening. SOPHiA Homologous Recombination Solution (SOPHiA HRS) and SOPHiA mini-Homologous Recombination Solution (miniHRS) are sample-to-report NGS-based applications, that combine an expertly designed capture-based target enrichment kit with access to the analytical capabilities and interpretation-support functionalities of the SOPHiA DDM™ platform. These solutions empower in-house expertise by providing high analytical performance* and streamlined bioinformatics workflows with several intuitive features, that accelerate variant assessment and interpretation.

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    Highlights

    • Optimized probe design to deliver a high on-target rate throughout the entire target regions
    • Customizable content to meet your laboratory’s specific research needs
    • High coverage uniformity, unlocking efficiency for a cost-effective multiplexing and accurate variant detection (SNVs, indels, and CNV screening)
    • Ready-to-use target-enriched library in just 1.5 days
    • Streamlined interpretation with the SOPHiA DDM™ platform’s intuitive variant filters, algorithm-supported variant classification, and unlimited access to:
    • OncoPortal™ to obtain the latest scientific evidence on all relevant variants
    • One of the largest networks of connected healthcare institutions, to gain and share knowledge on relevant variants
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    Specifications

    Parameters MiniHRS HRS
    Gene Panel Ovarian, prostate, breast, pancreas cancer Ovarian, prostate, breast, pancreas cancer
    Covered Genes 4 genes: BRCA1, BRCA2, RAD51B, TP53 16 genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCL, PALB2, PPP2R2A, RAD51B, RAD51C, RAD51D, RAD54L, TP53
    Target Region 34 Kb 66 Kb
    Sample Source FFPE, fresh-frozen tissue FFPE, fresh-frozen tissue
    DNA Input 10 ng DNA minimum (50 ng recommended) 10 ng DNA minimum (50 ng recommended)
    Sequencer Compatibility
    • Illumina MiniSeq™ kit (2x150bp)
    • Illumina MiSeq® kit v3 (2x300bp)
    • Illumina MiSeq® kit v2 (2x150bp)
    • Illumina MiSeq® kit v3 (2x300bp)
    • Ion Torrent™ Ion S5™ System, Ion 540™
    Library Preparation Time 1.5 days 1.5 days
    Analysis Time From FASTQ From 4 hours From 4 hours
    Variants Called SNVs
    Indels
    CNV screening
    SNVs
    Indels
    CNV screening

    Expertly designed pipelines to confidently assess CNVs

    Screening CNVs in FFPE samples is challenging because it is strongly affected by the FFPE-induced degradation of the input DNA, tumor content, and heterogeneity. SOPHiA GENETICS algorithms have been designed to accurately identify CNVs whose breakpoint falls within a gene of the panels.

    Data pooling and knowledge sharing

    Dedicated features to ease variant interpretation

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

    • Hotspot Screening to quickly pinpoint the relevant hotspots and provide a clear overview of wild-type hotspot positions
    • Variant Pre-Classification to facilitate assessment of variants’ pathogenicity
    • 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 bases
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    Webinars

    Robust CNV detection using whole exome sequencing for complex cases

    Overcoming Limitations of Assessing HRR Deficiency in Somatic Samples with NGS

    Learn how we can support you in overcoming the challenges and maximizing the ability to detect Homologous Recombination Repair (HRR) deficiency in somatic samples with our experts Mikhail Pertziger, PhD, Product Manager and Christian Pozzorini, PhD, Director of Biostatistics Research. 

    Robust CNV detection using whole exome sequencing for complex cases

    Adoption of Broad NGS Profiling for HRR Deficiency: Looking beyond BRCA, SNVs, and Indels

    Discover the experience of a French laboratory, implementing a novel targeted solution to accurately assess the homologous recombination repair (HRR) deficiency by analyzing a series of genes, beyond BRCA, and calling multiple types of variants, including copy number variants (CNVs).

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    Resources

    Mini-Homologous Recombination Solution (SOPHiA Mini-HRS)

    Homologous Recombination Solution (SOPHiA HRS)

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    SOPHiA Hereditary Cancer Solutions

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