This repository includes all scripts and links to rebuild the construction of paralog annotation used in the paper Lal, May, et al.. All necessary filed can be downloaded from the Zenodo repository Paralog variant classification and scoring.

bin

Script directory. Contains scripts for annotating exonic missense variants with the parazscore.

data

Contains input data to generate the parazscore for annotation that is used from the scripts in the bin directory.

example

Contains example input and output files for the variant annotation scripts in bin.

makeScores

Contains all scripts and files neccessary to run the paralog annotation workflow locally as used in used in the paper Lal, May, et al.. Necessary large data files can be downloaded from the Zenodo repository Paralog variant classification and scoring.