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feat: Added support for scarHRD #429

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merged 4 commits into from
Aug 22, 2023

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ericblanc20
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@ericblanc20 ericblanc20 requested a review from mbenary August 22, 2023 08:14
@ericblanc20 ericblanc20 linked an issue Aug 22, 2023 that may be closed by this pull request
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  • Please format your Python code with black: make black
  • Please format your Snakemake code with snakefmt: make snakefmt
  • Please organize your imports isorts: make isort
  • Please ensure that your code passes flake8: make flake8

You can trigger all lints locally by running make lint

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coveralls commented Aug 22, 2023

Coverage Status

coverage: 85.577% (+0.03%) from 85.546% when pulling 0d08a09 on 428-homologous-recombination-deficiency-score into 18217bc on main.

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Small inconsistencies, otherwise looks good.

or not sample_pair.normal_sample.dna_ngs_library
):
msg = (
"INFO: sample pair for cancer bio sample {} has is missing primary"
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typo "has is"

The score is a proxy for holomogous recombination deficiencies scores produced from SNP arrays.
The software is described in `Sztupinszki et al.<https://doi.org/10.1038/s41523-018-0066-6>`,
but it is not part of CRAN, Bioconductor or bioconda (currently).
The implementation also relies on obsolete version of `sequenza<https://github.com/oicr-gsi/sequenza/tree/master>` &
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Based on this documentation, sequenza is installed from github. The install/environment is using CRAN. Please adjust documentation or installing process.

chr_in_name = "TRUE" if snakemake.config["step_config"][step]["scarHRD"]["chr_prefix"] else "FALSE"
prefix = "chr" if snakemake.config["step_config"][step]["scarHRD"]["chr_prefix"] else ""
if genome_name == "grch37" or genome_name == "grch38":
chromosomes = " ".join([prefix + str(x) for x in list(range(1, 25)) + ["X"]])
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This puzzles me ... Shouldn't it be 23? Similar for mouse.

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Thanks for adjusting.

@ericblanc20 ericblanc20 merged commit c5f9dde into main Aug 22, 2023
@ericblanc20 ericblanc20 deleted the 428-homologous-recombination-deficiency-score branch August 22, 2023 11:50
@tedil tedil mentioned this pull request Jun 28, 2024
This was referenced Dec 9, 2024
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Homologous Recombination Deficiency score
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