Genetic data moves
faster than interpretation.
Labs generate long lists of genetic variants, but interpreting what each one means takes time and specialized expertise. GeneGenius analyzes VCF files and provides ACMG/AMP classifications for evaluated variants, documenting the evidence criteria met and those that could not be evaluated.
For research use only. Not for diagnosis, treatment, or clinical decision-making. A qualified person reviews the research result. GeneGenius does not make that decision.
Why this matters now
The meaning of a change is rarely in one place. Population data, published evidence, and a specialist's checklist have to be brought together by hand, after the sequence is already finished.
The cost of that wait is real. Rare disease diagnosis can take years, and the annual U.S. economic burden of rare disease is estimated to approach $1 trillion on 2019 data.
- $517K
- Upper bound of avoidable cost per patient from delayed diagnosis ($86K–$517K across seven rare diseases)
- EveryLife Delayed Diagnosis Study (2023)
From genomic data to research-ready evidence
GeneGenius helps research teams analyze genetic variants, connect findings to supporting evidence, and generate structured reports in one traceable workflow.
- 01VCF ingest
- 02Clinical parse
- 03Annotation
- 04ACMG/AMP interpretation
- 05Research report
See GeneGenius in action
A walkthrough of the product, with the judgment calls left to an expert.
What each result can include
Five parts of the analysis for each variant a run evaluates. Not every dimension is independently validated or live yet.
From a raw VCF to an interpretable, evidence-linked research report
We start where sequencing ends. Built for research teams, laboratory scientists, and clinicians working in a research setting.
For Clinicians
Evidence-linked variant review for research, with citation-backed reports.
Learn moreFor Labs
VCF to ACMG/AMP-aligned classification, using the same rules on every variant in that run.
Learn moreFor Researchers
Multi-omics annotation, pathogenicity prediction, and literature-grounded evidence for the variants a run evaluates.
Learn moreResearch Use Only · Not for diagnostic procedures
Built for more genomic capacity with the teams you have.
GeneGenius is designed to help laboratories and research programs complete more genomic work with existing teams, keep more analysis in-house, and expand the services they can offer.
Capacity
Built for throughput
Designed to help teams complete more genomic analyses without increasing specialist headcount at the same rate.
Retention
Keep work in-house
Designed to reduce dependence on outsourced interpretation and keep more genomic work within the organization.
Services
Room to expand services
Built to support reanalysis, cohort research, evidence reporting, and new genomic research programs.
For hospitals and academic medical centers, this can also support larger research cohorts, biobank programs, sponsored studies, and pharmaceutical partnerships.