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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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