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Simplify configuration file for running deepRVAT #99

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merged 76 commits into from
Jun 25, 2024

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meyerkm
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@meyerkm meyerkm commented May 23, 2024

What

Allows users to interact with a deeprvat_input_config.yaml that is a more simplified configuration file with only those parameters most relevant to users. The main deeprvat_config.yaml used for the pipelines is then created automatically based on the input from deeprvat_input_config.yaml, when running a pipeline.

Testing

Testing this PR involved running the various deepRVAT pipelines using the respective deeprvat_input_config.yaml(see specific pipeline input configs in '/example/config/' ) . Subsequently, then testing all pipeline scripts requiring the generated deeprvat_config.yaml file.

Instructions

Run your desired training and/or association testing snakemake pipeline, i.e. training_association_testing.snakefile. The snakemake pipeline expects the generated deeprvat_config.yaml file. If deeprvat_config.yaml has not been previously generated or supplied via the snakemake --configfile argument, then the pipelines expects a 'deeprvat_input_config.yaml' file to be present in the working directory. Then the snakemake pipeline will automatically generate the necessary deeprvat_config.yaml into your working directory based on 'deeprvat_input_config.yaml'.

@meyerkm meyerkm requested review from bfclarke and HolEv May 23, 2024 14:24
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@bfclarke bfclarke left a comment

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Thanks, Kayla, this looks really great! I've left a few comments, please take a look.

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@bfclarke bfclarke left a comment

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Thanks for the changes, LGTM!

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@HolEv HolEv left a comment

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LGTM!

@meyerkm meyerkm marked this pull request as ready for review June 25, 2024 07:43
@bfclarke bfclarke merged commit 46bf983 into main Jun 25, 2024
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4 participants