SOPHiA DDM Homologous Recombination Deficiency (HRD) Solution

Go beyond homologous recombination repair (HRR) mutation detection.

Expand identification of HRD positive ovarian cancers.

SOPHiA DDM HRD Solution combines information from germline and somatic HRR mutations (including BRCA1 and BRCA2) with a measure of genomic scarring. Accelerate and empower your clinical cancer research decisions with cost-effective, reliable, and timely in-house results.

Targeted sequencing of somatic and germline mutations in 28 HRR genes, including BRCA1 and BRCA2

High coverage of low-pass whole genome sequencing (WGS) data supports detection of genomic scars

Deep learning algorithms reveal extent of genomic scarring through the Genomic Integrity Index

SOPHiA DDM™️ end-to-end workflow with high quality analytical and interpretation capabilities

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Product Details

Sophia Tumor Solutions Plus Screenshot

Detect HRD Cause and Effect in a Single Assay

SOPHiA DDM HRD Solution leverages target capture technology to isolate somatic and germline mutations in 28 HRR genes (including BRCA1 and BRCA2). This allows the user to identify pathogenic variants, such as SNPs and Indels, that could be potential causes of HRD.

To measure the impact of HRD, the SOPHiA DDM HRD Solution leverages low-pass WGS in conjunction with a convolutional neural network-based deep learning algorithm to produce the Genomic Integrity Index. This score measures the extent of genomic scarring as a result of HRR mutations across the entire genome.

Combining the detections of HRR gene mutation and the Genomic Integrity Index in a single assay provides an accurate and sensitive method for determining HRD status of a tumor sample.

Sophia Tumor Solutions Workflow

High Quality Analytics and Interpretation

SOPHiA DDM HRD Solution is a sample-to-report next generation sequencing (NGS)-based application, that combines an expertly designed wet lab 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, interpretation, and reporting.

SOPHiA DDM HRD Solution Benefits

Easily and reliably assess HRD status with novel algorithms for HRD detection

Reduce turnaround time and costs with a comprehensive 2-in-1 solution

Build in-house expertise on HRD testing with a decentralized workflow, retaining ownership of all data

Identify mutations in 28 HRR genes and measure genomic scarring in a single solution

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Specifications

Parameters Details
Diseases Covered Ovarian cancer
Gene Symbols Covered AKT1*, ATM, BARD1, BRCA1, BRCA2, BRIP1, CCNE1, CDK12, CHEK1, CHEK2, ESR1*, FANCA, FANCD2, FANCL, FGFR1*, FGFR2*, FGFR3*, MRE11, NBN, PALB2, PIK3CA*, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RAD54L, TP53.
Target Region Size 88 kb
Key Biomarkers BRCA1, BRCA2
Sample Type FFPE ovarian cancer tissue
Input Amount 50 ng DNA per sample
Sequencer Compatibility Illumina NextSeq® 550
Library Preparation Time 1.5 days
Analysis Time From FASTQ 12 hours
Detected Variants
  • SNPs
  • Indels
  • Gene amplifications

* Hot spot coverage only

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