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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.