SOPHiA DDM™ Homologous Recombination Solutions

Go beyond BRCA analysis and broaden your detection capabilities

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Analyze HRD beyond BRCA by exploring multiple HRR genes simultaneously and potentially identify more samples sensitive to PARPi.

Genetic abnormalities in homologous recombination repair (HRR) genes, beyond BRCA1 and BRCA2, can lead to homologous recombination deficiency (HRD) in several cancer types, including ovarian, breast, prostate, and pancreatic cancers 1.

Focus on extended HRR sequencing in your research laboratory to increase the probability of identifying positive samples.

Sequence more genes beyond BRCA 1 and BRCA 2 to identify the cause of HRD associated with various  cancers

Have your library ready to sequence in 1.5 days

Rely on high accuracy and coverage uniformity across the panel

Detect gene amplifications alongside single nucleotide variants (SNVs) and Indels with our proprietary algorithms

Accelerate interpretation with the SOPHiA DDM™ intuitive variant filters

Take advantage of guideline-driven variant pathogenicity ranking using machine learning

Use OncoPortal™ Plus to classify variants according to evidence-based annotations from the JAX-CKB database

Mutated HRR genes disrupt efficient DNA-repair thereby leading to genome-wide scarring known as HRD phenotype.

Comprehensive coverage of HRR genes

SOPHiA GENETICS offers three different HRR applications that enable accurate analysis of HRR status, covering up to 28 genes involved in the HRR pathway and encompassing SNVs, Indels, as well as gene amplifications. 

SOPHiA DDM™ Homologous Recombination Applications 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.

Intuitive features accelerating variant assessment​

SOPHiA DDM™ Homologous Recombination Applications empower in-house expertise by providing high analytical performance and streamlined bioinformatics workflows with several intuitive features that accelerate variant assessment and interpretation. ​

The user-friendly interface​ provides accelerated filtering through:​

  • variant pathogenicity levels assigned using machine learning complemented by guideline-driven ranking​s.​
  • filtering by focusing on cancer type-specific variants.​
  • creating  your own custom filtering strategies.​

Detect gene amplifications confidently with our proprietary algorithm

Gene amplifications play a crucial role in HRD, as mutations in HRR genes lead to more error-prone repair throughout the genome1.

In addition, screening gene amplifications in FFPE samples is challenging because it is strongly affected by sample degradation and heterogeneity of the sample.  To overcome this challenge, SOPHiA GENETICS has developed  an algorithm designed to accurately identify gene amplifications, the breakpoint of which falls within a gene.

SNV: single nucleotide variations;  Indel: Insertion and deletions.

Want to learn more about how to test for HRD in tumor samples

Discover our SOPHiA DDM™ HRD Solution and its deep-learning algorithm for detecting genomic scarring!

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Parameters SOPHiA DDM™ Mini Homologous Recombination Solution (HRS) SOPHiA DDM™ HRS SOPHiA DDM™ Extended HRS (Ext HRS)
Diseases Covered Ovarian, prostate, breast, pancreas cancer Ovarian, prostate, breast, pancreas cancer Ovarian, prostate, breast, pancreas cancer
Target Region Size 34 Kb 66 Kb 88 Kb
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 28 genes: 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.
Sample Type FFPE, fresh-frozen tissue FFPE, fresh-frozen tissue FFPE, fresh frozen tissue
Input Amount  50 ng 50 ng 50 ng
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™
  • Illumina NextSeq® 550
Library Preparation Time  1.5 days 1.5 days 1.5 days
Analysis Time From FASTQ  From 4 hours 4 hours 4 hours
Detected Variants
  • SNVs
  • Indels
  • Gene amplifications
  • SNVs
  • Indels
  • Gene amplifications
  • SNVs
  • Indels
  • Gene amplifications
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  1. Pennington et al. Clin Cancer Res. 2014;20(3):764-75; 
  2. The Cancer Genome Atlas Research Network. Nature. 2011;474(7353):609–15; 
  3. Risch et al. J Natl Cancer Inst. 2006;98(23):1694-706.
  4. Mekonnen N, Yang H and Shin YK. Front Oncol.  202212:880643.