Clinical Genomics Platform
GenePortal
Whole genomes, exomes, targeted panels, microbiome and RNA-seq — from raw data to actionable clinical report. Over 5,000 polygenic risk models, pharmacogenomics, clinical AI and integrated multi-omics in a single platform.
Complete pipeline: from FASTQ to report
GenePortal orchestrates the full bioinformatics pipeline for genomes, exomes and targeted panels. No external tools, no manual steps.
Whole Genome (WGS)
BWA-MEM2 + GATK HaplotypeCaller + snpEff + ClinVar. 30x, PE150, GRCh38. Variants, CNVs (gCNV 1kb), STRs (ExpansionHunter), SMA, HLA.
Whole Exome (WES)
Same GATK Best Practices pipeline adapted to coding regions. >20,000 genes, 100x+ coverage. Automatic ACMG classification.
Targeted Panels
31 predefined panels across 14 specialties (cardiology, oncology, neurology, etc.) + custom panels. >500x coverage.
Annotation & Classification
snpEff + VEP + ClinVar + gnomAD v4. Automated ACMG/AMP classification (Richards 2015 Table 5 strict). Compound het with gnomAD phasing.
Advanced genomic analysis
Every variant classified according to international guidelines. Every result actionable.
Variant explorer
Interactive browsing of SNVs, indels and CNVs with automatic ACMG classification. Filters by gene, consequence, gnomAD frequency, clinical significance and quality. 31 gene panels predefined across 14 clinical specialties. AI interpretation of each individual variant.
Polygenic risk (PRS)
5,296 PRS models from the PGS Catalog, computed on the whole genome (not imputed from array). GVCF densification + PLINK2 with normalization against 2,500 reference genomes. Integrated risk combining PRS + clinical history + family history. NLP recommender, semantic search, absolute risk estimation and ancestry verification.
Pharmacogenomics
30 genes analyzed (CYP2D6, CYP2C19, CYP2C9, CYP3A4/5, DPYD, TPMT, VKORC1, SLCO1B1 and more). Diplotypes, activity scores, phenotype classification. Drug-gene alerts with CPIC and DPWG recommendations. Database of 600+ interactions + Open Targets API.
Clinical screening (Tier 2)
33 variants across 17 categories: APOE (Alzheimer), thrombophilias (F2/F5), MODY, celiac disease, hemochromatosis, alpha-1 antitrypsin, malignant hyperthermia, familial hypercholesterolemia and more. ExpansionHunter v5 (38 STR loci: HTT, FMR1, C9ORF72…), SMA by SMN copy number, and HLA typing.
Trio analysis
Detection of de novo variants, compound heterozygosity, homozygous recessive and X-linked variants. Proband/father/mother genotype comparison with statistical phasing (WhatsHap + SHAPEIT4) and gnomAD co-occurrence confirmation.
Nutrigenetics and traits
66 nutrigenetic variants across 5 categories (macronutrients, vitamins, minerals, substances, behavior). 134 recreational traits across 12 categories (physical, athletic, sensory, sleep, aging, cognitive, curiosities…) — all with PMID citations.
Beyond the genome
GenePortal integrates multiple omic layers in a single interface.
Microbiome
Multi-species support (human, dog, cat, horse, bovine). 16S analysis (QIIME2/DADA2) and shotgun (Kraken2). Alpha/beta diversity, taxonomy, AI interpretation, downloadable reports.
RNA-seq
21 differential expression analysis tabs: DEBrowser, enrichment, heatmaps, correlation, WGCNA, PPI networks, KEGG maps, single-cell, cell trajectories, intercellular communication, ceRNA, ncRNA.
Multi-omics
Integrated metabolomics, proteomics and methylation modules. Cross-omic correlation matrix to identify convergent patterns across data layers.
Reports for every audience
One genome, multiple reports tailored to whoever needs them.
Patient report
Interactive HTML with 8 sections: ancestry, traits, nutrigenetics, polygenic risk, pharmacogenomics, clinical findings, lifestyle recommendations and GenePortal access. Downloadable 40+ page PDF.
Clinical report (physician)
P/LP variants with detailed ACMG classification, compound het with gnomAD co-occurrence, pharmacogenomics, Tier 1/2 screening, PRS with percentiles, VUS of interest, and methodology. ODT, PDF and JSON formats.
AI clinical assistant
Conversational chat with full patient context (variants, PRS, PGx, microbiome). Answers clinical questions, suggests additional studies, generates narratives and translates reports into multiple languages.
What no other platform does
The market is split: clinical platforms (Franklin, VarSome, SOPHiA) that don’t do PRS or patient reports, and consumer portals (23andMe, Dante, Nebula) that lack real clinical analysis. GenePortal is the only platform that operates in both worlds.
5,296 PRS models from real genome
Computes any model from the PGS Catalog directly on your WGS. GVCF densification + PLINK2 without chip imputation. Neither Dante nor Nebula offer access to the full catalog; 23andMe works on just 0.1% of the genome.
Clinical + consumer in one
ACMG classification, trios, compound het with gnomAD phasing, CNVs, STRs — everything Franklin or VarSome do. But also PRS, PGx, ancestry, nutrigenetics and 134 traits — everything Dante or Nebula do. In a single platform.
True integrated multi-omics
Genomics + microbiome (QIIME2) + RNA-seq + metabolomics + proteomics in the same dashboard. Dante sells RNA-seq as a separate product; SOPHiA combines genomics with radiomics, not microbiome. None integrates all layers.
Self-hosted + lifetime updates
Your data on your server, no third-party cloud. GDPR-native. And when ClinVar reclassifies a variant or a new PRS model is published, data is automatically reanalyzed. No consumer portal offers on-premise deployment.
Clinical AI that knows the patient
Not a generic chatbot: the AI assistant ingests variants, PRS, PGx and microbiome from the specific patient. Dante offers AI chat only in its premium tier and without integrated genomic context.
Integrated clinical risk
Combines PRS with validated clinical scores: SCORE2 for cardiovascular, Tyrer-Cuzick for breast, FINDRISC for diabetes. Clinical history + family history + genomics in a single risk calculation. No other platform does this.
Who is GenePortal for?
Genetics laboratories
Offer your clients international-grade reports under your own brand. End-to-end validated pipeline with regression of 1,156 assertions.
Clinical geneticists
Variant explorer with ACMG classification, Tier 2 screening, actionable pharmacogenomics and an AI assistant that knows your patient.
Research centers
Integrated multi-omics (genomics + RNA-seq + microbiome + metabolomics) in a single interface. 21 RNA-seq tabs for full differential expression analysis.
Try GenePortal with real data
Demo access for professionals: variants, PRS, pharmacogenomics, AI chat and more.
No commitment. No installation. 48 hours of full access.