Data portals & clinical interpretation
3 important questions on Data portals & clinical interpretation
Two main categories of data portals
- Access gateway to all data
- Sharing (clinically) annotated variants (cBioPortal)
Most important aspect of routine diagnostics
Robustness
- Contamination
- Sample swaps
- Coverage
5-class system of pathogenicity
1. Pathogenic (5P)
2. Likely pathogenic (4LP)
3. Variant of uncertain significance (3VOUS)
4. Likely benign (2LB)
5. Benign (1B)
2. Likely pathogenic (4LP)
3. Variant of uncertain significance (3VOUS)
4. Likely benign (2LB)
5. Benign (1B)
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