VariantInterpretationEngine

Clinical variant interpretation pipeline applying ACMG criteria for pathogenicity classification and VUS resolution.

Features

• ACMG/AMP criteria-based variant classification
• Pathogenic/likely pathogenic/VUS stratification
• Missense variant functional impact scoring
• VUS resolution rate estimation
• Clinical genomics reporting automation

Results

500 variants; Pathogenic=34, LP=67, VUS=310 (62%); Resolvable VUS=56.1%

Usage

pip install numpy scipy matplotlib
python variant_interpretation_engine.py

Tags

variant-interpretation, pathogenic-variants, acmg-criteria, clinical-genomics, missense-variant