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From genomic variantsto clear clinical decisions.

Sequencing is no longer the bottleneck. Interpretation is.

GeneGenius delivers clear, evidence-based interpretation of genomic variants by unifying population data, clinical knowledge, literature insight, and biological context into a single view. Every interpretation is fully transparent, showing what evidence was used, which criteria were applied, and why, so clinicians can verify results.

See How It Works

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.
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

Input

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

02

Annotation

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

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.

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.

Clinical Applications

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

Evidence Synthesis

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

Gold Standard Validation

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.

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 Trail

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
Scientific Advisory

Scientific Rigor,
Built Into Our Foundation

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
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

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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