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pEA_Matrix_Generation

Generating pEA/sumEA matrix for any ML algorithm

Installation

  1. git clone https://github.com/maryamsamiei/pEA_Matrix_Generation.git
  2. conda env create -f ./BigPipeline/environment.yml
  3. conda activate pyBigPipeline

Usage

Required arguments:

Argument Descripion
--VCF Path to annotated VCF file
--samples Path to two-column CSV file with sample IDs in the first column and patient labels (cases=1, controls=0) in the second column. There should be no header row in the csv
--savepath Path for output files
--cores number of cpus to use

Optional arguments:

Argument Descripion
--maxaf sets maximum allele frequency threshold for ML pipelines (default: 0.01)
--minaf sets minimum allele frequency threshold for ML pipelines (default: 0)
--method pEA or sumEA matrix calculation. (options: pEA, sumEA)
--chrX Whether to include (1) or exclude (0) sex chromosomes in analysis (options: 1, 0 / default: 1 )

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Generating pEA matrix for any ML algorithm

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