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Completion

Iterative SVD Completion method for ancestry-specific dimensionality reduction.

Usage

Run the method using the following command from command line.

python3 iterative_svd_method.py params.txt

params.txt is the parameters file that is passed as input to the method. The following parameters can be specified in the parameters file:

  • BEAGLE_OR_VCF (int): 1 if the genetic data file is a Beagle file, or 2 if it is a VCF file.
  • BEAGLE_FILE (str): path to the Beagle file if the genetic data file is a Beagle file.
  • VCF_FILE (str): path to the VCF file if the genetic data file is a VCF file.
  • IS_MASKED (bool): True if an ancestry file is passed for ancestry-specific masking, or False otherwise.
  • VIT_OR_FBK_OR_TSV (int): 1 if the ancestry file is a VIT file, 2 if it is an FBK file, or 3 if it is a TSV file.
  • VIT_FILE (str): path to the VIT file if the ancestry file is a VIT file.
  • FBK_FILE (str): path to the FBK file if the ancestry file is a FBK file.
  • FB_OR_MSP (int): 1 if the TSV ancestry file is an FB file, or 2 if it is an MSP file.
  • TSV_FILE (str): path to the TSV file if the ancestry file is a TSV file.
  • NUM_ANCESTRIES (int): the total number of ancestries in the ancestry file.
  • ANCESTRY (int): ancestry number of the ancestry for which dimensionality reduction is to be performed. Ancestry counter starts at 0 if the ancestry file is a TSV file, and starts at 1 if it is a VIT or an FBK file.
  • PROB_THRESH (float): minimum probability threshold for a SNP to belong to an ancestry, if the ancestry file is an FBK file or an FB TSV file.
  • AVERAGE_PARENTS (bool): True if the DNAs from the two parents are to be combined (averaged) for each individual, or False otherwise.
  • START_RANK (int): smallest rank among the range of ranks, from which the best rank is to be chosen for Iterative SVD using cross-validation.
  • END_RANK (int) = largest rank among the range of ranks, from which the best rank is to be chosen for Iterative SVD using cross-validation.
  • RANK (int): rank for Iterative SVD if no cross-validation is to be performed.
  • CHOOSE_BEST (bool): True if cross-validation is to be performed to choose the best rank for Iterative SVD, or False otherwise.
  • NUM_CORES (int): number of cores to use for performing cross-validation in parallel.
  • IS_WEIGHTED (bool): True if weights are provided in the labels file, or False otherwise.
  • LABELS_FILE (str): path to the labels file. It should be a TSV file where the first column has header indID and contains the individual IDs, and the second column has header label and contains the labels for all individuals. If IS_WEIGHTED is specified as True, then the file must have a third column that has header weight and contains the weights for all individuals. NOTE: Individuals with zero weight are removed. Negative weights are used to combine individuals and replace them with a single average individual. Provide a weight of -1 to the first set of individuals to be combined, -2 to the second set of individuals to be combined, and so on. Each set of individuals that is to be combined must have the same label.
  • OUTPUT_FILE (str): path to the output file, to which the output of the run is written. It is a TSV file with 3 columns. The first column contains the individual IDs, and the second and third column contain the ancestry-specific projections obtained after dimensionality reduction.
  • SCATTERPLOT_FILE (str): path to the scatter plot file with .html extension. The scatter plot of the individuals is saved in this file.
  • SAVE_MASKED_MATRIX (bool): True if the masked matrix is to be saved as a binary file, or False otherwise.
  • MASKED_MATRIX_FILE (str): path to the masked matrix file. The masked matrix is saved in this file.
  • SAVE_COMPLETED_MATRIX (bool): True if the completed matrix is to be saved as a binary file, or False otherwise.
  • COMPLETED_MATRIX_FILE (str): path to the completed matrix file. The completed matrix is saved in this file.

NOTE: The parameters file must have all the above parameters. Each line in the parameters file must have a parameter name followed by =, followed by the value for that parameter. The value for a parameter that is not useful for the run can be filled with any value compatible with the parameter type.

NOTE: There are 2 acceptable formats for SNP indices in the Beagle file:

  1. rsid: rs followed by the id (integer). For example, rs12345.
  2. position: chromosome number (integer) followed by _, followed by the position (integer). For example, 10_12345.

NOTICE: This software is available for use free of charge for academic research use only. Commercial users, for profit companies or consultants, and non-profit institutions not qualifying as "academic research" must contact the Stanford Office of Technology Licensing for a separate license. This applies to this repository directly and any other repository that includes source, executables, or git commands that pull/clone this repository as part of its function. Such repositories, whether ours or others, must include this notice. Academic users may fork this repository and modify and improve to suit their research needs, but also inherit these terms and must include a licensing notice to that effect.