R & D

Research & Development focus areas driving Novo Genomics innovation

Polygenic Risk Score (PRS)

"Forecast Your Future Health One SNP at a Time." — Predictive tool using millions of SNPs to estimate inherited disease risks.

#Genetics #RiskAssessment

Ultra-Rapid Gender ID Test

"When Every Hour Counts—Genetics That Moves at the Speed of Care." — Genetic sex ID in <24 hours for urgent care.

#RapidDiagnostics #NGS

NovoBiome (Microbiome)

"Decoding Your Second Genome to Transform Health." — Gut microbiome profiling for personalized nutrition & immunity insights.

#Microbiome #Wellness

Pharmacogenomics (PGx)

"Right Drug. Right Dose. Right DNA." — Personalizing medication using validated SNP panels and CDS integration.

#PGx #DrugSafety

Whole Exome Sequencing (WES)

"Turning the Code of Rare Diseases into Clearer Diagnoses." — High-coverage exome pipelines for rare disease diagnostics.

#WES #ClinicalGenomics

OncoMaster AI (Colorectal)

"AI-Driven Precision for Colorectal Cancer Therapy." — Predictive model for chemotherapy response using multi-omics.

#Oncology #AI

Polygenic Risk Score (PRS) — Genetic Risk Estimation

A predictive tool using millions of SNPs to estimate inherited disease risks. Collaborations (e.g., Allelica), lcWGS pipeline, PCA-adjusted scores, disease panels for CAD, breast & prostate cancer, and validation metrics.

  • Collaborations with Allelica
  • lcWGS → imputation → PCA-adjusted PRS
  • Disease-specific panels (CAD, BC, PC)
  • Validation metrics & references

Ultra-Rapid Gender ID Test

Genetic sex identification in <24 hours using a single blood spot. Focus on NICU use-cases, XY/XX detection pipelines, and workflow optimization for clinical urgency.

  • NICU & emergency use cases
  • Bioinformatics pipeline for XY/XX detection
  • Turnaround optimization & validation studies
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NovoBiome — Gut Microbiome Intelligence

Gut microbiome profiling for personalized lifestyle, nutrition, and immunity. Using 16S & shotgun metagenomics, host-microbiome interactions, and AI-generated recommendations.

  • Microbial diversity mapping
  • Host-microbiome interaction studies
  • AI-driven personalized recommendations
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Pharmacogenomics (PGx)

Personalizing medications based on genetic variants that influence drug response. Building PGx panels (CYP2D6, CYP2C19...) and integrating CDS for genotype-guided dosing.

  • PGx panels and validation
  • Clinical decision support integration
  • Education and Saudi-specific PGx findings
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Whole Exome Sequencing (WES)

High-coverage clinical-grade exome sequencing for rare disease diagnostics. Optimized pipelines, AI-assisted interpretation and collaborative reanalysis.

  • 100X+ coverage
  • AI-based variant prioritization (HPO)
  • Service development for pediatrics and neurology
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OncoMaster AI — Colorectal Cancer

AI-driven predictive model for chemotherapy response (FOLFOX). Multi-omics integration and Saudi cohort validation to support precision oncology decisions.

  • AI model training & validation (OCM-001)
  • Clinical deployment in oncology centers
  • Expandable to other cancer types
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