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Project to genotype SNV, INDEL and SV.

Project description

genotype_variants

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Project to genotype SNV, INDELS and SV.

Features

Currently this module only supports genotyping and merging small variants (SNV and INDELS).

For this we have the following command line submodule called small_variants.

Which have the following sub-commands:

  • generate: To run GetBaseCountMultiSample on given BAM files

  • merge: To merge MAF format files w.r.t counts generated from the generate command.

  • all: This will run both of the sub-commands above generate and merge togather.

  • multiple-patient: This will run sub-commands all for multiple patients in the provided metadata file

Please read the USAGE (https://genotype-variants.readthedocs.io/en/latest/usage.html) section of the documentation for more information

To Do

  • Tagging genotyped files for thresholds

  • Genotyping normal buffy coats

  • Genotype structural variants calls

Credits

This package was created with Cookiecutter and the audreyr/cookiecutter-pypackage project template.

History

0.2.1 (2020-04-09)

  • Release bug fixes, where simplex numbers are listed as duplex and vice versa, during running all command.

0.2.0 (2020-04-08)

  • Release with multiple-patient command.

0.1.0 (2020-01-30)

  • First release on PyPI.

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