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VcfCalculatePRS.md

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VcfCalculatePRS tool help

VcfCalculatePRS (2022_12-82-g025eb99e)

Calculates the Polgenic Risk Score(s) for a sample.

The PRS VCF files have to contain a WEIGHT entry in the INFO column.
Additionally some information about the PRS score is required in the VCF header.
An example VCF file can be found at https://github.com/imgag/ngs-bits/blob/master/src/tools-TEST/data_in/VcfCalculatePRS_prs2.vcf

Mandatory parameters:
  -in <file>      Tabix indexed VCF.GZ file of a sample.
  -prs <filelist> List of PRS VCFs.
  -bam <file>     BAM file corresponding to the VCF.
  -out <file>     Output TSV file containing Scores and PRS details

Optional parameters:
  -ref <file>     Reference genome FASTA file. If unset, 'reference_genome' from the 'settings.ini' file is used.
                  Default value: ''

Special parameters:
  --help          Shows this help and exits.
  --version       Prints version and exits.
  --changelog     Prints changeloge and exits.
  --tdx           Writes a Tool Definition Xml file. The file name is the application name with the suffix '.tdx'.

VcfCalculatePRS changelog

VcfCalculatePRS 2022_12-82-g025eb99e

2022-12-15 Added BAM depth check and population AF.
2020-07-22 Initial version of this tool.

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