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Variant Interpretation for Clinical Genomics

From genomic variantsto clinical clarity

Sequencing is no longer the bottleneck. Interpretation is.GeneGenius is a clinical decision support platform that synthesizes evidence from ClinVar, ACMG guidelines, and peer reviewed literature to help clinicians move from variant data to actionable insight.

Every interpretation shows exactly how it was reached: which sources were consulted, which criteria were applied, and why. Clinicians can verify. Institutions can stand behind it.

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Why This Matters

13 years searching
for answers.

Reina spent her childhood without a diagnosis. Genetic tests returned results. But the results came back the same way, again and again: "Variant of Uncertain Significance."

The variant was there. The clinical picture was there. What was missing was the interpretation, the synthesis of evidence that could help clinicians understand what the data might mean.

After 13 years, Reina's family received a diagnosis. For them, the odyssey ended. For many others, it continues.

"It took 13 years. We finally have the answer."

Reina's father

This is the diagnostic odyssey. Sequencing has become fast and accessible. Interpretation has not kept pace.

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

Interpretation at Scale

  • •Variants identified, significance unclear
  • •Evidence scattered across databases
  • •Interpretation capacity lags sequencing
  • •Clinicians need synthesis, not more data
Approach

Organized Evidence

  • •Synthesize sources into summaries
  • •Show reasoning transparently
  • •Support clinician review, not replace it
  • •Cite every source, explain every step

Reina's story reflects a systemic challenge. GeneGenius exists to help organize the evidence, not to promise outcomes, but to support the clinicians who make them possible.

GeneGenius is a clinical decision support tool, currently in validation. It does not diagnose, treat, or replace clinical judgment. Final decisions remain with qualified clinicians and their patients.

Who We Serve

Built for people who
move science forward

Whether you're analyzing sequences, managing a lab, or leading research initiatives, GeneGenius adapts to how you work.

Research Scientists

Spend less time on data infrastructure and more time on discovery. Focus on the science, not the systems.

Bioinformaticians

Standardized pipelines that scale. Stop reinventing the wheel for every new project.

Lab Directors

Unified data management across your entire team. Visibility and control without the complexity.

How It Works

Interpretation,
not just annotation

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

01

Ingest

Input genomic variants from VCF files, sequencing reports, or clinical lab outputs.

02

Interpret

Apply AI models trained on literature, ClinVar, and functional evidence to assess variant significance.

03

Align

Cross reference findings with ACMG guidelines, PharmGKB, and clinical databases for evidence grounding.

04

Act

Generate explainable, clinician ready reports with actionability recommendations and evidence trails.

4
Steps
Ingest
Interpret
Align
Act
Clinical Applications

Variant interpretation
that informs decisions

From rare disease diagnostics to precision oncology, turn variant data into clinically actionable insights grounded in evidence.

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.

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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.

Learn more
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.

PharmGKBLearn more
Why GeneGenius

Interpretation built for
clinical confidence

Explainable, evidence grounded variant interpretation designed for clinicians who need clarity, not complexity.

Explainable Reports

Every interpretation includes evidence trails, confidence scores, and literature citations, designed for clinical review.

Evidence Grounded

Interpretations draw from ClinVar, ACMG guidelines, PharmGKB, and peer reviewed literature. No black box predictions.

ClinVarACMGPharmGKB

Faster Turnaround

Designed to reduce interpretation time significantly. Help accelerate the path from sequencing to clinical decision.

Guideline Alignment

Interpretations are cross referenced with ACMG/AMP criteria and clinical practice guidelines for consistency.

ACMG/AMP

Clinician in the Loop

Designed as decision support, not replacement. Final clinical judgment always remains with qualified professionals.

Designed to Evolve

Built to incorporate new evidence as it emerges, helping interpretations stay aligned with advancing research.

AI Powered Trust Layer

Explainable AI.
Verifiable Results.

Our deep learning models don't just predict, they explain. Every interpretation includes evidence trails, confidence scores, and full auditability.

Deep Learning Architecture

Neural Evidence Synthesis

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

Gold Standard Validation
Full Transparency Layer

Explainable AI

Every prediction includes attention maps, confidence scores, and citation trails. See exactly which evidence influenced each decision node.

ACMG/AMP Framework

Clinical Grade Validation

Built to align with ACMG/AMP variant interpretation standards. Designed for traceability, auditability, and clinician oversight.

ACMG/AMP Guidelines
Live Evidence Trail

See the reasoning behind every interpretation

Our neural networks show their work. Trace any prediction back through the evidence graph to understand exactly how conclusions were reached.

Example Variant
BRCA2c.5946delT
Pathogenic

Interpretation 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.

Supporting Evidence

2 of 4 sources
ClinVar Database
Strong

Classified as Pathogenic in ClinVar with multiple independent submissions from clinical testing laboratories and expert panels.

ClinVar: VCV000009325
ACMG/AMP Guidelines
Strong

Meets multiple ACMG/AMP criteria including null variant in gene where loss-of-function is established mechanism of disease.

4 criteria applied to support classification

Example based on publicly available ClinVar data.

Explore Evidence Trail
Enterprise Compliance

Built for Institutional Trust

Clinical laboratories operate under scrutiny. Every interpretation may be reviewed by clinicians, by institutions, by oversight bodies.

GeneGenius is engineered for that reality.

Seamless Data Flow Across All Systems

Not Reconstructed

Reasoning is Recorded

Our AI captures decision pathways in realtime. Evidence trails are immutable and timestamped, available instantly for any audit or review.

Not Asserted

Sources are Visible

Every classification links directly to ClinVar, ACMG guidelines, PubMed citations, and peer reviewed databases. Full transparency at every node.

ClinVar
Industry Standard

Methodology is Recognized

Interpretations align with ACMG/AMP guidelines and established clinical frameworks. Designed to be benchmarked against public reference datasets as validation progresses.

ACMG/AMP
Partnership

Work with
GeneGenius

We partner with research institutions, pharmaceutical companies, and healthcare organizations that are committed to advancing genomic science and precision medicine.

Our engagements typically begin with a technical assessment to understand your specific requirements, data landscape, and integration needs. We believe the right partnership starts with the right conversation.

Ideal partners include

  • Academic medical centers and research hospitals
  • Pharmaceutical and biotechnology companies
  • Diagnostic laboratory networks
  • Healthcare systems with genomics programs
  • Life sciences research institutions
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The Team

People who
understand your work

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

Zuhra Maksudi

Zuhra Maksudi

CEO & Founder

Mohd Sarfaraz Faiyaz

Mohd Sarfaraz Faiyaz

Co Founder

Joseph X. Ng

Joseph X. Ng

CSO

Nishant Jaiswal

Nishant Jaiswal

CTO