SOPHiA Homologous Recombination Solutions

Broaden your HRR deficiency detection capabilities

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.

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

Streamline interpretation with the SOPHiA DDM™ intuitive variant filters, algorithm-supported variant classification with OncoPortal™ to obtain the latest scientific evidence on all the relevant variants

Have access to one of the largest networks of connected healthcare institutions within SOPHiA DDM™, to gain and share knowledge on relevant variants​

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Product Details

Empower your in-house expertise​

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.

Sophia Homologous Recombination Solutions Screenshot
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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

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.

Sophia Homologous Recombination Solutions CNV Screening
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Specifications

Parameters MiniHRS HRS
Diseases Covered Ovarian, prostate, breast, pancreas cancer Ovarian, prostate, breast, pancreas cancer
Key Biomarkers 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 Size 34 Kb 66 Kb
Sample Type FFPE, fresh-frozen tissue FFPE, fresh-frozen tissue
Input Amount 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
Detected Variants
  • SNVs
  • Indels
  • CNV screening
  • SNVs
  • Indels
  • CNV screening
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