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| Attribut | ＋ Werkzeug hinzufügen | |
|---|---|---|
| Category | Genomics & Sequence Modeling | — |
| Subcategory | 3D Variant Pathogenicity | — |
| Company | Illumina Artificial Intelligence Lab | — |
| Access mode | Open Access for Research | — |
| Licence conditions | Academic non-commercial use | — |
| Compute requirements | Pre-computed genome-wide lookup table / GPU inference | — |
| Biological application | Rare disease genetic diagnosis, carrier screening, and drug target discovery | — |
| Research workflow | Patient genomic variant -> query 3D pathogenicity score | — |
| Evidence level | Peer-reviewed research (Science 2023) | — |
| Commercial eligibility | Open access for non-commercial research; Illumina platform integration | — |
| Price | Free for academic research | — |
| Availability ⓘ | Available via Illumina GitHub and Connected Analytics | — |
| 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 | — |
| Entry type | AI Model & Database | — |
| AI role | 3D Structural Variant Classification | — |
| Input data | Nicht erfasst | — |
| Output data | Nicht erfasst | — |
| Validation | Nicht erfasst | — |
| Type | 3D deep learning variant pathogenicity classifier | — |
| Intended use | Nicht erfasst | — |
| Compatibility | Nicht erfasst | — |
| Manufacturer | Illumina, Inc. | — |
| Integration evidence | https://github.com/illumina/PrimateAI-3D | — |
| Laboratory handoff | Directly used in clinical genetics diagnostic reporting | — |