variant-risk-explainer / docs /LIMITATIONS.md
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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.