- Clone the repository
git clone https://github.com/Belval/AlphaMissenseCheck.git
- Download the AlphaMissense_hg19.tsv.gz file
- Download your genome data from 23andme
- Un-gzip both and rename your genome file as "genome.txt"
- Install dependencies
pip install -r requirements.txt
- Run
python check.py
The script will print all your mutations with their classification and then print a small summary. Here is mine for reference:
Report:
% Mutated genes: 1.97%
% Mutated genes with at least 1 allele classified as benign: 93.98%
% Mutated genes with at least 1 allele classified as ambiguous: 3.94%
% Mutated genes with at least 1 allele classified as pathogenic: 2.08%
% Mutated genes with 2 alleles classified as benign: 31.11%
% Mutated genes with 2 alleles classified as ambiguous: 0.88%
% Mutated genes with 2 alleles classified as pathogenic: 0.33%