File size: 886 Bytes
8fbda8a
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
# 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.