From variants to understanding
AI-Powered Genetic Variant Analysis
Built for Clinical Genetics Laboratories
Transform your variant analysis operation with AI-powered infrastructure that scales with demand
Operational Efficiency
- Reduce analysis time from 5-10 days to 30-60 minutes
- Process more cases with existing staff
- Eliminate manual literature searches
Quality & Compliance
- Standardized, reproducible interpretation
- Complete audit trails for regulatory compliance
- Continuous updates from clinical guidelines
Cost Structure
- Freemium pricing for small laboratories
- Pay-per-analysis model that scales
- ROI positive within first year
Strategic Benefits
- Enable precision medicine at scale
- Reduce time to diagnosis for patients
- Future-proof AI architecture
Validated by Clinical Partners
Helena is built in partnership with leading clinical genetics laboratories that validate the platform in real diagnostic practice.
Founding Clinical Partner ยท Sofia, Bulgaria
The first clinical laboratory to validate Helena in real diagnostic practice. CellGenetics covers the full spectrum of clinical genetics, from rare disease and oncology to cardiology, neurology, reproductive health, and pharmacogenomics.
Learn more about CellGeneticsAI-Powered Analysis Pipeline
Seven integrated modules that transform raw genomic data into actionable clinical insights
Variant Analysis & Classification
VCF processing with Ensembl VEP annotation and rule-based ACMG/AMP classification across all 28 evidence criteria.
Phenotype Matching
HPO-based phenotype-to-gene matching with semantic similarity scoring and tiered clinical relevance ranking.
Literature Evidence
Local PubMed database with pre-extracted gene and variant mentions. Sub-second clinical queries with full PMID and DOI traceability.
Clinical Screening
Age and context-aware variant prioritization. Tier 1 and Tier 2 shortlists with screening modes for neonatal, pediatric, adult diagnostic, and carrier testing.
Family & Trio Analysis
Trio-aware genomic analysis with de novo variant detection, compound heterozygous candidate identification, and segregation testing.
Mitochondrial DNA Analysis
Dedicated mtDNA pipeline with the MMDWG 2020 classification framework, heteroplasmy assessment, and haplogroup-aware interpretation.
Cohort Analysis
Cohort-level research analysis across multiple cases. Cross-sample variant aggregation and population-level genomic insights.
How It Works
From upload to clinical report in three simple steps
Upload VCF File
Upload your genomic data file securely. Supports standard VCF format from any sequencing platform.
AI Analysis
Automated processing pipeline analyzes variants, phenotypes, and literature in under 15 minutes.
Clinical Report
Download comprehensive interpretation with ACMG classification, evidence, and recommendations.
Powered by Established Clinical Databases
Helena integrates with authoritative genomic and clinical databases to provide comprehensive, evidence-based variant analysis.
Security & Compliance
Genomic data demands the highest level of protection. Our infrastructure and processes are designed for clinical-grade security from the ground up.
EU Data Residency
All genomic data is processed and stored exclusively on dedicated servers in Helsinki, Finland. Your data never leaves the European Union.
Encryption
TLS 1.3 encryption in transit and AES-256 encryption at rest. All data is encrypted end-to-end from upload to storage.
Access Control & Audit Trails
Role-based access control with complete audit logging. Every access, modification, and analysis is tracked and auditable.
GDPR Article 9 Compliance
Genetic data is classified as special category data under GDPR. We maintain full compliance with Data Protection Impact Assessments and Records of Processing Activities.
Data Processing Agreements
Standard DPA provided for every laboratory partnership, clearly defining data controller and processor responsibilities, retention periods, and breach notification procedures.
Data Minimization & Retention
We process only the genomic data necessary for analysis. Configurable retention policies with automatic deletion. Your data, your control.
Compliance Documentation
Full transparency. All compliance documents are available for review.
Ready to Transform Your Variant Analysis?
Join laboratories worldwide reducing analysis time from days to minutes with AI-powered genomic interpretation.
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