From a raw VCF or FASTQ to an interpretable, evidence-linked report — in minutes.
We start where sequencing ends. GeneGenius is the interpretation layer in the middle — not the lab, not the clinician — built for the teams turning genomic data into research-ready evidence.
Built for the people who read genomes
Our primary end users are clinicians, diagnostic and sequencing labs, and researchers. We also support genetic counselors, pharmacogenomics specialists, biopharma and translational R&D teams, rare-disease research groups, bioinformatics core facilities, and academic genomics programs.
For Clinicians
Automated variant interpretation with evidence-linked, citation-backed research reports and a readable summary view.
Learn moreFor Labs
A high-throughput VCF- or FASTQ-to-report pipeline with reproducible, ACMG/AMP-aligned classification.
Learn moreFor Researchers
Deep multi-omics annotation, pathogenicity prediction, and literature-grounded evidence at cohort scale.
Learn moreHow we interpret genomic data
Nine signals we combine when interpreting a variant. Not every dimension is independently validated or live yet — treat this as the analysis surface we are building toward, and see the research-use note below.
ACMG/AMP-aligned classification
Variant classification led by core signals (e.g. PVS1, PS1, PM2) rather than a fixed criteria checklist.
Structural & binding impact
Model-predicted binding delta from protein-structure models — a computational signal, not experimental binding energy.
Splicing impact
SpliceAI-based scoring of potential splice disruption around each variant.
Expression outlier
Outlier expression relative to normal tissue, using GTEx baselines for context.
Phenotype-to-gene
Prioritization from synthetic clinical notes and HPO terms. Real-world EHR validation is in progress.
Therapeutic context
Therapeutic research context from CIViC, ClinicalTrials.gov, PharmGKB, and OpenFDA labels — informational, not treatment guidance.
Metabolomic overlay
Pathway-level context layered on findings via KEGG.
Functional rectification
Correcting annotation miscalls to reduce noise carried into interpretation.
Variant-to-mechanism
After the report, mechanism links grounded in the published literature.
Research Use Only
GeneGenius is for research use only (RUO) and is not intended for use in diagnostic procedures or clinical decision-making. Analytical capabilities are under ongoing validation.
See GeneGenius on your own data.
From a raw VCF or FASTQ to an interpretable, evidence-linked research report — in minutes.
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