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Genomics & Bioinformatics · 3D Variant Pathogenicity

PrimateAI-3D

By Illumina Artificial Intelligence Lab →

3D deep learning for human rare disease and clinical variant interpretation

PrimateAI-3D uses 3D convolutional neural networks trained on sequence variants across 233 primate species and atomic protein structures to accurately identify pathogenic mutations in patients.

Trained on benign variants identified across 233 diverse primate speciesDirectly incorporates 3D structural protein atomic coordinate representationsOutperforms previous variant classification tools on ClinVar and UK Biobank cohortsClassifies variants of unknown significance (VUS) in rare genetic disorders
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Overview

PrimateAI-3D uses 3D convolutional neural networks trained on sequence variants across 233 primate species and atomic protein structures to accurately identify pathogenic mutations in patients.

Information checked against an official source; not a hands-on test. Source · Last reviewed: 20/09/2026, 11:10:15

Key Features

  • Trained on benign variants identified across 233 diverse primate species
  • Directly incorporates 3D structural protein atomic coordinate representations
  • Outperforms previous variant classification tools on ClinVar and UK Biobank cohorts
  • Classifies variants of unknown significance (VUS) in rare genetic disorders

Academic Context & Research Evidence

Biological & Workflow Fit

Biological Application
Rare disease genetic diagnosis, carrier screening, and drug target discovery
Research Workflow
Patient genomic variant -> query 3D pathogenicity score
Compute & Hardware
Pre-computed genome-wide lookup table / GPU inference
Licensing & Academic Use
Academic non-commercial use
Documented Evidence
View validation publication / source ↗

Cite this Tool

Use this citation format when referencing PrimateAI-3D in scientific publications and benchmark papers.

@software{primateai_3d_2026,
  title = {{PrimateAI-3D}},
  author = {{Illumina Artificial Intelligence Lab}},
  year = {2026},
  url = {https://github.com/illumina/PrimateAI-3D},
  note = {Indexed on aibioatlas - AI for Biology and Drug Discovery}
}

Peer-Reviewed Literature & Preprints

Live scientific citations streamed from Europe PMC and PubMed for PrimateAI-3D.

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Technical / Product Information

Missing values mean the catalog has no recorded information. They do not mean a feature is absent.

Entry typeAI Model & Database
Access modeOpen Access for Research
AI role3D Structural Variant Classification
Input dataNot recorded
Output dataNot recorded
Licence conditionsAcademic non-commercial use
Commercial eligibilityOpen access for non-commercial research; Illumina platform integration
Compute requirementsPre-computed genome-wide lookup table / GPU inference
ValidationNot recorded
Type3D deep learning variant pathogenicity classifier
Intended useNot recorded
CompatibilityNot recorded
ManufacturerIllumina, Inc.
Biological applicationRare disease genetic diagnosis, carrier screening, and drug target discovery
Research workflowPatient genomic variant -> query 3D pathogenicity score
Evidence levelPeer-reviewed research (Science 2023)
Integration evidencehttps://github.com/illumina/PrimateAI-3D
Laboratory handoffDirectly used in clinical genetics diagnostic reporting
AvailabilityAvailable via Illumina GitHub and Connected Analytics
Price / accessFree for academic research

Research fit & compatibility

No software–hardware integration has been verified for this entry yet. Explore documented research workflows.

Gallery & resources

No licensed product photograph recorded for PrimateAI-3D yet. Visit the official resource below for manufacturer imagery.

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FAQ

Where is this product available?

Available via Illumina GitHub and Connected Analytics

How is pricing handled?

Prices reflect the source at its last check. Confirm current pricing and regional availability on the official site.

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Peer Reviews & Community Ratings

Feedback from researchers and computational biologists evaluating PrimateAI-3D.

5.0
★★★★★Based on 0 researcher evaluations
Biological Accuracy
4.8/5
Ease of Installation
4.3/5
Documentation & Code
4.6/5