Skip to main content

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)

Project details


Download files

Download the file for your platform. If you're not sure which to choose, learn more about installing packages.

Source Distribution

acmg_calculator-0.2.1.tar.gz (4.0 kB view details)

Uploaded Source

Built Distribution

If you're not sure about the file name format, learn more about wheel file names.

acmg_calculator-0.2.1-py3-none-any.whl (3.5 kB view details)

Uploaded Python 3

File details

Details for the file acmg_calculator-0.2.1.tar.gz.

File metadata

  • Download URL: acmg_calculator-0.2.1.tar.gz
  • Upload date:
  • Size: 4.0 kB
  • Tags: Source
  • Uploaded using Trusted Publishing? No
  • Uploaded via: twine/6.2.0 CPython/3.12.12

File hashes

Hashes for acmg_calculator-0.2.1.tar.gz
Algorithm Hash digest
SHA256 78e5a8557d970d2a34deb45a1178bd9babf2570678fce5ea8e43dccc837ed81b
MD5 33c85cca2280250c3cbd35146e529a99
BLAKE2b-256 fc608f92125fc298b8bfa609d5488f8bf3296f03415c042a624b4c83043efe46

See more details on using hashes here.

File details

Details for the file acmg_calculator-0.2.1-py3-none-any.whl.

File metadata

File hashes

Hashes for acmg_calculator-0.2.1-py3-none-any.whl
Algorithm Hash digest
SHA256 8da00cbcc9c4e312ea3137cbf7f2e420bb6b01a869fbde54f24a6a5e9d31ec3e
MD5 9b6e26a33fb548c290b89a5a88d94fc2
BLAKE2b-256 3b34a911d2b0bd01fcfcc2fcd7751362d05d8c3a10f4460b456bce6474ed780a

See more details on using hashes here.

Supported by

AWS Cloud computing and Security Sponsor Datadog Monitoring Depot Continuous Integration Fastly CDN Google Download Analytics Pingdom Monitoring Sentry Error logging StatusPage Status page