ACMG Pathogenicity Calculator
Project description
acmg-calculator
A minimal Python package for classifying genetic variants according to the ACMG/AMP 2015 standards.
Installation
pip install acmg-calculator
Usage
Calculate Pathogenicity
from acmg_calculator import calculate_pathogenicity
# Example: 1 Very Strong + 1 Strong
evidence = ['PVS1', 'PS1']
result = calculate_pathogenicity(evidence)
print(result) # Output: Pathogenic
Access Metadata
from acmg_calculator import metadata
# Get a dictionary of all evidence codes and their descriptions
data = metadata()
print(data['PVS1'])
# Output: Null variant in a gene where LOF is a known mechanism of disease
Classification Rules
This package implements the consensus rules from Richards et al. (2015), including:
- Pathogenic
- Likely Pathogenic
- Benign
- Likely Benign
- Uncertain Significance (VUS)
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