SOPHiA DDM™ Extended Homologous Recombination Solution (ExtHRS)
Vendor: SOPHiA GENETICS
SKU: BS0128ILLRSCY12-16
In stock
SOPHiA DDM™ ExtHRS is a sample-to-report NGS application that allows researchers to go further with their HRR mutation sequencing and identify the cause of HRD across cancer types, including ovarian, breast, prostate, colon, lung and pancreatic.
Sample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.
Specifications
| Gene content | 28 HRR-associated genes (26 targeted for CNV detection) |
|---|---|
| Diseases covered | Ovarian, breast, prostate, colon, lung and pancreatic cancers |
| Detected variants | SNVs Indels Gene- and exon-level CNVs (incl. BRCA large genomic rearrangements) |
| Sample type | FFPE, fresh-frozen tissue |
| Starting material | 50 ng DNA |
| Samples per run | Up to 32 samples for Illumina® NextSeq® 500/550 Mid Output Kit (also compatible with NovaSeq®, Element and MGI sequencers) |
| Reads per sample | 8 million (2x150bp) |
| Library preparation time | 1.5 days |
| Regulatory status | Research Use Only (RUO) |
Key Features
Expand identification of HRD+ samples – Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.
Workflow
Every step leads to informed decisions – Empower your HRD expertise with a simple, adaptable workflow.
A wave of insights for every laboratory – Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.
- Flexible and scalable library preparation – Rely on robust sequencing across multiple applications using one universal and automated protocol.
- Accurate variant detection and annotation – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.
- Customizable reporting – Quickly prepare comprehensive reports tailored to your needs.
Analytics
Give your HRD analysis a kick – Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.
- Universal genomic integrity assessment – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).
- Sensitive SNV and Indel detection – Accurately identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.
- Reliable CNV analysis – Identify critical gene amplification/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.
- Robust variant annotation – Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.
- Recognized by ESMO guidelines – Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1/2 and HRD testing using a validated assay in patients with advanced ovarian cancer.
Documents
Ordering Information
| Product code | Sequencer | Sample type | Reactions |
|---|---|---|---|
| BS0128ILLRSCY12-16 | Illumina | cfDNA | 16 |
| BS0128ILLRSCY12-32 | Illumina | cfDNA | 32 |
| BS0128ILLRSCY12-48 | Illumina | cfDNA | 48 |
| BS0128ILLRSMY10-16 | Illumina | Somatic | 16 |
| BS0128ILLRSMY10-32 | Illumina | Somatic | 32 |
| BS0128ILLRSMY10-48 | Illumina | Somatic | 48 |
| BS0128ILLRSMY10-96 | Illumina | Somatic | 96 |
| BS0128MGIRSCY12-32 | MGI | cfDNA | 32 |
| BS0128MGIRSCY12-48 | MGI | cfDNA | 48 |
For Research Use Only. Not for use in diagnostic procedures.
Specifications
- Cancer type Ovarian, breast, prostate, colon, lung and pancreatic cancers
- Content specifications 28 HRR-associated genes (26 targeted for CNV detection)
- Hands on time 1.5 days
- Input quantity 50 ng DNA
- Instruments IlluminaMGI
- Multiplexing Up to 32 samples for Illumina® NextSeq® 500/550 Mid Output Kit (also compatible with NovaSeq®, Element and MGI sequencers)
- Pack size 16, 32, 48, 96 reactions
- Regulations Research Use Only (RUO)
- Specialized sample types FFPE, fresh-frozen tissue
- Sub category HRD
- Variant class SNVs; Indels; Gene- and exon-level CNVs (incl. BRCA large genomic rearrangements)
links and documants
- Datasheet url Click here
- Source url Click here
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SOPHiA DDM™ Extended Homologous Recombination Solution (ExtHRS)
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