Biomarker Discovery & Validation
AI-driven genomic analysis, companion diagnostics co-development and multi-omics integration - from variant calling to regulatory-grade clinical validation in one continuous pipeline.
Three Disciplines. One Integrated Pipeline.
Deep learning models for variant calling, pathogenicity prediction and predictive pharmacogenomics. High-accuracy WGS/WES pipelines built on cloud-native infrastructure for petabyte-scale sequencing data with full automated QC.
End-to-end companion diagnostics development from initial biomarker selection through FDA PMA/510(k) approval and EU IVDR CE marking - synchronized with clinical trial phases for simultaneous market entry. Multi-omics integration via MOFA+ and network analysis unifies genomics, transcriptomics, proteomics and metabolomics into actionable systems-level insights.
What Sets IQA Biomarkers Apart
Genomics · CDx · Multi-Omics - One Platform
Every analytical dimension - from variant calling to regulatory submission - managed and validated.
Precision Variant Calling
- DeepVariant deep learning for SNV/Indel detection
- GATK HaplotypeCaller integration
- High-accuracy WGS/WES pipelines
- Full automated QC at petabyte scale
Pathogenicity Prediction
- ACMG/AMP-aligned AI-enhanced scoring
- ClinVar & COSMIC annotation
- TMB/MSI status determination
- Clinical-grade variant interpretation
Predictive Pharmacogenomics
- Drug-gene interaction modeling
- PGx-guided dosing recommendations
- Molecular profile-based drug sensitivity
- Population pharmacogenomic analysis
CDx Assay Development
- Analytical qualification & CTA development
- Full GxP/QSR validation
- NGS, Digital PCR, IHC, FISH/ISH platforms
- Liquid biopsy cfDNA & CTC analysis
Regulatory & Dual Submission
- FDA PMA / 510(k) and De Novo pathways
- EU IVDR CE-Marking strategy
- Drug NDA/BLA + Diagnostic PMA simultaneous filing
- LDT to IVD transition roadmaps
Multi-Omics Factor Analysis
- MOFA+ latent factor modeling
- Cross-platform data harmonization
- Pathway enrichment & topology integration
- UMAP / t-SNE / PCA visualization
Spatial & Single-Cell Analysis
- 10x Genomics / Visium / MERFISH
- Trajectory inference & pseudotime modeling
- Cell type annotation & niche analysis
- Cell-to-cell communication networks
Cloud-Native Pipelines
- Nextflow/WDL on AWS/GCP Life Sciences
- Docker/Singularity containerization
- Version-controlled reproducible workflows
- Automated QC and provenance tracking
Clinical Reporting & Delivery
- PDF / HL7 FHIR / JSON report generation
- Clinical-grade variant reports
- Biomarker panel result summaries
- EHR-ready structured data output
From FASTQ to Clinical Report
Every stage automated, version-controlled and audit-ready.
Raw Input
FASTQ · WGS / WES / Targeted Panels
QC & Alignment
FastQC · BWA-MEM2 · Trimmomatic
Variant Calling
DeepVariant · GATK HaplotypeCaller
Annotation
ACMG/AMP · ClinVar · COSMIC · TMB/MSI
Integration
MOFA+ · Multi-omics factor analysis
Clinical Report
PDF / HL7 FHIR / JSON delivery
Purpose-Built Platforms for Biomarker Science
Cloud-native, version-controlled and reproducible - every pipeline built for petabyte-scale genomics and multi-omics integration.
A Biomarker Partner Built Differently
AI-First, Not AI-Bolted-On
DeepVariant, transformer architectures and ML-driven pharmacogenomics are embedded into every pipeline - not optional add-ons.
CDx Co-Development from Day 1
We synchronize companion diagnostic timelines with clinical trial phases - assay concept to dual NDA/PMA submission in one integrated program.
True Multi-Omics, Not Multi-Assay
MOFA+ factor analysis integrates genomics, transcriptomics, proteomics and metabolomics into unified molecular profiles - not parallel single-omics reports.
Reproducible by Design
Every pipeline runs in Docker/Singularity with Nextflow/WDL orchestration - full version control, provenance tracking and audit trails.
Global Regulatory Fluency
FDA PMA/510(k), EU IVDR CE-Marking and LDT-to-IVD transitions - regulatory expertise across all major markets.
From Discovery to Clinical Validation
We don't stop at candidate biomarkers. Analytical validation, clinical validation and regulatory-grade evidence packages - one accountable partner.
Accelerate Your Biomarker Program
From AI-driven genomics to CDx regulatory approval. Talk to our team - we respond within 1 business day.