Sample Missingness Module

The usage of the standalone module is shown below:

$ pyGenClean_sample_missingness --help
usage: pyGenClean_sample_missingness [-h] [-v] --ifile FILE [--is-bfile]
                                     [--mind FLOAT] [--out FILE]

Computes sample missingness using Plink.

optional arguments:
  -h, --help     show this help message and exit
  -v, --version  show program's version number and exit

Input File:
  --ifile FILE   The input file prefix (by default, this input file must be a
                 tfile. If options --is-bfile is used, the input file must be
                 a bfile).

  --is-bfile     The input file (--ifile) is a bfile instead of a tfile.
  --mind FLOAT   The missingness threshold (remove samples with more than x
                 percent missing genotypes). [Default: 0.100]

Output File:
  --out FILE     The prefix of the output files (wich will be a Plink binary
                 file). [default: clean_mind]

Input Files

This module uses either PLINK’s binary file format (bed, bim and fam files) or the transposed pedfile format separated by tabulations (tped and tfam) for the source data set (the data of interest).


Here are the steps performed by the module:

  1. Uses Plink to remove samples with a high missing rate (above a user defined threshold).

Output Files

The output files of each of the steps described above are as follow (note that the output prefix shown is the one by default [i.e. clean_geno]):

  1. One set of PLINK’s output and result files:
    • clean_mind: the new dataset with samples having a high missing rate removed (above a user defined threshold). The file clean_mind.irem contains a list of samples that were removed.

The Algorithm

For more information about the actual algorithms and source codes, refer to the following page.