Built for the
specialist's bottleneck
Rare disease care is bottlenecked by interpretation. The U.S. specialist gap is severe: 1,965 clinical geneticists and 6,985 genetic counselors.
GeneGenius automates variant interpretation so specialists can handle more cases without reducing quality.
Input
Upload variant files. We quickly filter millions of variants to prioritize likely clinical relevance.Genomic variant files are uploaded. Millions of variants are filtered so priority is placed on those most likely to be clinically relevant.
Annotation
Prioritized variants are annotated with gene, frequency, clinical, and inheritance context.Relevant variants are annotated with gene information, population frequencies, known clinical associations, and inheritance patterns to establish biological and clinical context.
Interpretation
We combine clinical evidence, literature, and datasets to classify coding and non-coding variants.Each variant is interpreted by integrating evidence from clinical knowledge, scientific literature, and biological datasets. Non-coding variant classification is explicitly included alongside protein-coding analysis.
Review
Results are delivered in three report tiers for clinicians, counselors, and research teams.Findings are delivered in three report tiers: a 3-page clinician summary, a genetic counselor mid-tier report, and a full 60-100 page research report. Pedigree and family analysis workflows are coming soon.
Input
Upload variant files. We quickly filter millions of variants to prioritize likely clinical relevance.Genomic variant files are uploaded. Millions of variants are filtered so priority is placed on those most likely to be clinically relevant.
Annotation
Prioritized variants are annotated with gene, frequency, clinical, and inheritance context.Relevant variants are annotated with gene information, population frequencies, known clinical associations, and inheritance patterns to establish biological and clinical context.
Interpretation
We combine clinical evidence, literature, and datasets to classify coding and non-coding variants.Each variant is interpreted by integrating evidence from clinical knowledge, scientific literature, and biological datasets. Non-coding variant classification is explicitly included alongside protein-coding analysis.
Review
Results are delivered in three report tiers for clinicians, counselors, and research teams.Findings are delivered in three report tiers: a 3-page clinician summary, a genetic counselor mid-tier report, and a full 60-100 page research report. Pedigree and family analysis workflows are coming soon.
Why this bottleneck is accelerating
Transparent interpretation
at every step
Every conclusion is traceable. Every source is cited. Every decision pathway is open for clinical review.
Evidence Synthesis
Designed to synthesize evidence from public variant databases, established interpretation standards, and peer reviewed literature to support clinician review.
Gold Standard ValidationTransparency
Every interpretation includes confidence scores, attention maps, and complete citation trails, making it clear which evidence influenced each conclusion. Decision pathways are captured in real time, with immutable, timestamped evidence trails available instantly for clinical review, audit, or verification.
Clinical Alignment
Interpretations align with ACMG/AMP guidelines and established clinical frameworks, and are designed for traceability, auditability, and clinician oversight, with benchmarking against public reference datasets as validation progresses.
ACMG/AMP GuidelinesLive evidence,
fully auditable
See how variant evidence is structured, scored, and presented for clinical review in real time.
Summary
This variant demonstrates sufficient evidence for pathogenic classification based on convergence of population data, functional impact predictions, and established clinical associations documented in peer-reviewed literature.
This is a demonstration only. GeneGenius is a clinical decision support platform. Final diagnostic and treatment decisions always remain with qualified clinicians. This demo illustrates evidence synthesis methodology, not diagnostic capability.
Human-in-Control Review
GeneGenius generates structured evidence summaries and ACMG-aligned variant classifications. These outputs are designed to support expert review by clinical geneticists and laboratory professionals, who retain full authority over final interpretation and reporting.
Healthcare-Ready
Infrastructure
GeneGenius is designed with enterprise security architecture suitable for healthcare environments.
Role-Based Access Control
Granular permissions ensure only authorized personnel access sensitive genomic data and analysis tools.
Encrypted Storage & Transmission
All data is encrypted at rest and in transit, meeting enterprise-grade security standards.
Audit Logging
Every analysis workflow is logged with immutable, timestamped records for compliance and review.
BAA Support
Support for Business Associate Agreements with partner institutions for regulatory compliance.
Clinical Research
Collaborations
GeneGenius works with research institutions and clinical laboratories to evaluate genomic interpretation workflows using retrospective and de-identified datasets.
Variant Concordance
Evaluating consistency of variant classification across review workflows.
Workflow Acceleration
Measuring time-to-result improvements via AI-assisted interpretation.
LIS Integration
Seamless data exchange with existing laboratory information systems.