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From genomic variantsto clear clinical decisions.

GeneGenius turns the raw output of a genomic test into a clinician-ready report in minutes instead of weeks.

GPU-accelerated infrastructure for clinical genomics
NVIDIA Inception ProgramAWS

From raw variants
to clinical clarity

Four steps. One platform. Minutes instead of weeks.

Step 1
VCF Upload
Upload raw genomic variant files directly from sequencing pipelines.
Step 2
AI Variant Analysis
Multi-source evidence synthesis across databases and literature.
Step 3
ACMG Classification
Automated pathogenicity scoring aligned with ACMG/AMP guidelines.
Step 4
Clinician-Ready Report
Structured, auditable reports ready for clinical review.

Who is this for?

GeneGenius is designed for teams who need faster, more reliable genomic interpretation.

Clinical Genomics Labs

CLIA-certified and research laboratories seeking faster, more consistent variant interpretation workflows.

Hospital Genomics Programs

Health systems building or scaling clinical genomics services with limited bioinformatics staff.

Oncology Diagnostics Teams

Molecular tumor boards and precision oncology teams interpreting somatic and germline variants.

Rare Disease Research Groups

Academic and clinical researchers analyzing whole-exome and whole-genome sequencing for rare disease diagnosis.

Meet Reina and her family.

Reina spent her childhood without a diagnosis. The symptoms were present, the clinical findings were documented, and the genomic data was available, yet genetic testing repeatedly returned the same result: "Variant of Uncertain Significance." What was missing was interpretation, the synthesis of clinical context and evidence needed to understand what the data truly meant. After 13 years, Reina's family finally received a diagnosis: X-linked Houge-type syndromic intellectual developmental disorder. For them, the diagnostic odyssey ended. For many others, it continues.

25-30M
Americans with rare diseases
NIH GARD
4-5 Yrs
Average diagnostic delay
Phillips et al.
~40%
Variants uncertain
Rehder et al.

Interpretation,
not just annotation

From variant input to actionable insight, powered by AI, grounded in evidence, and aligned with clinical guidelines.

STEP 01

Input

Genomic variant files are uploaded. Millions of variants are filtered so priority is placed on those most likely to be clinically relevant.

STEP 02

Annotation

Relevant variants are annotated with gene information, population frequencies, known clinical associations, and inheritance patterns to establish biological and clinical context.

STEP 03

Interpretation

Each variant is interpreted by integrating evidence from clinical knowledge, scientific literature, and biological datasets. For protein-coding variants, 3D protein structure is shown, highlighting the exact variant location.

STEP 04

Review

All findings are presented as transparent interpretation summaries, showing what evidence was used, how conclusions were reached, and where uncertainty remains, allowing clinician review rather than automated decisions.

Built for GPU Genomics

GeneGenius is designed to integrate with GPU-accelerated genomics pipelines, enabling rapid variant calling and interpretation at scale. Our architecture is built to leverage the parallel processing capabilities of modern GPU infrastructure for clinical-grade throughput.

NVIDIA Inception ProgramAWS

Where genomic interpretation
drives decisions

From rare disease diagnostics to precision oncology, structured AI‑driven interpretation supports confident clinical action.

Diagnostic Clarity
01
Rare Disease Diagnostics

Diagnostic Clarity

Accelerate the interpretation of variants in rare disease cases. Reduce uncertainty by synthesizing evidence from literature, functional studies, and clinical databases to support diagnostic decisions.

Therapy Relevance
02
Precision Oncology

Therapy Relevance

Identify actionable variants linked to targeted therapies, clinical trials, and treatment guidelines. Connect tumor genomics to evidence based therapeutic options.

Treatment Response
03
Pharmacogenomics

Treatment Response

Interpret pharmacogenomic variants that affect drug metabolism and efficacy. Align findings with CPIC guidelines to support medication selection and dosing decisions.

PharmGKB

Transparent interpretation
at every step

Every conclusion is traceable. Every source is cited. Every decision pathway is open for clinical review.

Data Integration

Evidence Synthesis

Designed to synthesize evidence from public variant databases, established interpretation standards, and peer reviewed literature to support clinician review.

Gold Standard Validation
Auditability

Transparency

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.

Standards

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 Guidelines

Live evidence,
fully auditable

See how variant evidence is structured, scored, and presented for clinical review in real time.

BRCA2c.5946delT
PathogenicACMG/AMP Classification
ClinVar
Pathogenic
Strong
47
ACMG/AMP
PVS1, PM2
Strong
5 criteria
gnomAD
Absent
Supporting
0 / 251k
Literature
Confirmed
Strong
23 papers

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.

View the full auditable trail

Human-in-the-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.

Scientific rigor,
built into our foundation

Our work is guided by domain experts who bridge the gap between genomic science, clinical practice, and AI validation.

Amina Kurbidaeva, PhD

Amina Kurbidaeva, PhD

Founding Scientific Advisor

Genomics & Validation • NYU (Postdoctoral Associate) • Former Princeton University

Key Contributions
  • Guiding clinical validation of variant interpretation pipeline
  • Strengthening ACMG-aligned classification and evidence traceability
  • Advising on real-world genomics workflows and NGS pipeline review

People who
understand your work

A team with deep expertise in genomics, healthcare IT, and scalable infrastructure.

Zuhra Maksudi

Zuhra Maksudi

CEO & Co Founder
Mohd Sarfaraz Faiyaz

Mohd Sarfaraz Faiyaz

COO & Co Founder
Joseph X. Ng

Joseph X. Ng

CSO
Nishant Jaiswal

Nishant Jaiswal

CTO

Pilot
With Us

Be among the first to use GeneGenius. We partner with research institutions, clinical laboratories, and healthcare organizations committed to advancing genomic interpretation.

Engagements typically begin with a technical assessment to understand your requirements, data landscape, and integration needs.

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