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| # Project Limitations | |
| Variant Risk Explainer is an AI/ML research demonstration only. | |
| Key limitations: | |
| - The model is trained on DNA sequence patterns only. | |
| - The prediction does not include full clinical evidence. | |
| - The prediction does not include family history. | |
| - The prediction does not include population frequency. | |
| - The prediction does not include functional studies. | |
| - ClinVar labels can be incomplete, conflicting, biased, or updated over time. | |
| - Model performance is limited, with AUC ROC around `0.5928`. | |
| - The model may not generalize to variants outside the training distribution. | |
| - The system is not for diagnosis or treatment decisions. | |
| - The project is intended only for AI/ML research demonstration and education. | |
| Any real genetic or medical decision requires validated clinical testing, clinical databases, and review by qualified clinical genetics professionals. | |