RNAtarget Technology

Expect more from your RNA analyses

Low quality samples shouldn’t mean low quality results.

RNA sequencing is being recognized as a technology of choice for fusion detection but often, input amount and sample quality can impact the downstream results. RNAtarget Technology by SOPHiA GENETICS is an advanced customizable RNA-based sequencing approach that offers a single convenient workflow with confident novel fusion detection, while also providing ability to detect SNV/Indels and expression changes.

Novel fusion detection with high sensitivity

Optimized for small FFPE samples using 10ng RNA minimum input

Customizable gene content to perfectly fit the needs of each laboratory

Automation-friendly, streamlined 1.5-day workflow

Detection of SNV/Indels and expression changes in selected genes

Streamlined visualisation and interpretation with the SOPHiA DDM™

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Product Details

Benefit from sensitive novel fusion detection

Fully-guided amplicon-based solutions can limit the fusion genes detectable by the assay, potentially leading to false negative results. The capture-based design of RNAtarget Technology matches technical sensitivity of fully-guided amplicon-based solutions with 10ng of input while being able to detect more fusions due to novel fusion detection capability.

RNAtarget Technology Amplicon (fully-guided) Amplicon (single-primer)
Novel fusion detection X
Low amount / low quality input X
High sensitivity X
Easy customization X

Figure 1: Based on analysis of SeraCare and Horizon Discovery reference standards, RNAtarget Technology detects additional fusions (CD74-ROS1, EGFR-SEPT14, METex14 and SLC34A2-ROS1) that are not detected by an amplicon solution. Please note that both panels are designed to detect all fusions shown due to partner-agnostic panel design. Data on file.

Experience highly performant fusion detection with minimal sample input

RNAtarget Technology can detect more fusions in minimal input material samples (20ng) compared to a standard amplicon-based (single-primer) solutions with novel fusion detection capabilities (Figure 1).

Maximize insights from precious biopsy samples

RNAtarget Technology also detects SNVs/Indels in RNA which can be beneficial in cases where biopsy samples are too small to be processed with a separate DNA workflow. SNV/Indel calling in RNA also provides an indication of the expression and thus, of biological relevance of the detected mutation. Additionally, RNAtarget Technology allows for expression level assessment to provide insights into promoter fusions and confirmation of CNV calls.

Beyond Analytics

Results are displayed in SOPHiA DDM™. The platform allows immediate focus on relevant genomic alterations with several features facilitating the interpretation process:

  • Fusion display and flagging
  • SNV/Indel display and flagging
  • Enhanced downloadable quality report with important indicators like control gene molecule coverage, group size (based on PASS variants), and on-target and on-flank bases
Data pooling and knowledge sharing
workflow mobile image
Other solutions RNAtarget Technology
Panel design and onboarding
  • Poor probe/primer design
  • No customization
  • No novel fusion detection
  • Poor onboarding and validation support
  • Optimized probe design
  • Fully customizable
  • Detection of novel fusions
  • Onboarding and validation support
Nucleic acid extraction
  • Require high input amounts
  • Require high quality RNA
  • Optimized to work with minimum 10 ng of RNA input
  • Robust protocol designed to handle low quality RNA
Library prep and capture
  • Poor conversion of RNA into sequencable fragments
  • Workflow can’t be automated
  • High conversion rate of RNA into sequencable fragments
  • Automation-friendly, streamlined 1.5-day workflow
Analysis and visualization
  • Lacking QA report
  • Poor secondary analysis
  • RNA analysis limited to fusion detection
  • Comprehensive QA report
  • Secondary analysis optimized to work with wet lab
  • Detection of SNVs and expression in RNA
Annotation and reporting
  • Lacking clear insights
  • Poor reporting capabilities
  • Clear insights provided by JAX-CKB™
  • SOPHiA Community to share the knowledge
  • Assay-specific, customizable reporting capabilities
  • Need for data storage policies, infrastructure and compliance monitoring
  • Poor customer support to address technical issues
  • Data security, storage and global compliance
  • Global customer support to address technical issues
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Parameters RNAtarget Technology
Sample Type FFPE, fresh frozen tissue
Input Type RNA or TNA
Input Amount 10-200 ng, 50 ng recommended
Sequencer Compatibility
  • Illumina MiSeq®
  • Illumina NextSeq® 550
Library Preparation Time 1.5 days
Analysis Time From FASTQ File 8h/16 sample batch
Detected Variants
  • Fusions
  • SNVs/Indels
  • Expression changes
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