From 4bbc666acfcd6eeccdd91f4436983cb5d2df94d1 Mon Sep 17 00:00:00 2001 From: Yasemin Bridges Date: Wed, 20 Sep 2023 16:05:45 +0100 Subject: [PATCH] updating documentation --- README.md | 78 ++++++++++++++++++++++++++++++++++++++++++++++++------- 1 file changed, 69 insertions(+), 9 deletions(-) diff --git a/README.md b/README.md index 275e7ef..a65613f 100644 --- a/README.md +++ b/README.md @@ -1,22 +1,82 @@ # SvAnna Runner for PhEval -This is the Svanna plugin for PhEval. -## Developers +This is the SvAnna plugin for PhEval. With this plugin, you can leverage the structural variant prioritisation tool, SvAnna, to run the PhEval pipeline seamlessly. The setup process for running the full PhEval Makefile pipeline differs from setting up for a single run. The Makefile pipeline creates directory structures for corpora and configurations to handle multiple run configurations. Detailed instructions on setting up the appropriate directory layout, including the input directory and test data directory, can be found here. -An example skeleton `config.yaml` has been provided (`pheval.svanna/config.yaml`) which should be correctly filled and moved to the input-dir location. -To install the SvAnna plugin: +## Installation -``` +Clone the pheval.svanna repo and set up the poetry environment: + +```shell git clone https://github.com/yaseminbridges/pheval.svanna.git +cd pheval.svanna +poetry shell +poetry install +``` + +## Configuring a *single* run: + +### Setting up the input directory + +A `config.yaml` should be located in the input directory and formatted like so: + +```yaml +tool: svanna +tool_version: 1.0.3 +variant_analysis: True +gene_analysis: False +disease_analysis: False +tool_specific_configuration_options: + svanna_jar_executable: svanna-cli-1.0.3/svanna-cli-1.0.3.jar + post_process: + sort_order: descending +``` +The bare minimum fields are filled to give an idea on the requirements, as SvAnna is variant prioritisation tool, only variant_analysis should be set to True in the config. An example config has been provided pheval.svanna/config.yaml. + +The `svanna_jar_executable` points to the location of the Svanna jar executable in the input directory. + -cd pheval.svanna/ -poetry install ``` +### Setting up the testdata directory -To install PhEval: +The SvAnna plugin for PhEval accepts phenopackets and vcf files as an input. +The testdata directory should include subdirectories named `phenopackets` and `vcf`. + +e.g., + +```tree +├── testdata_dir +   ├── phenopackets +   └── vcf ``` -git clone https://github.com/monarch-initiative/pheval.git + +## Run command + +Once the testdata and input directories are correctly configured for the run, the `pheval run` command can be executed. + +```bash +pheval run --input-dir /path/to/input_dir \ +--testdata-dir /path/to/testdata_dir \ +--runner svannaphevalrunner \ +--output-dir /path/to/output_dir \ +--version 1.0.3 ``` + +## Common errors + +You may see an error that is related to the current `setuptools` being used: + +```shell +pkg_resources.extern.packaging.requirements.InvalidRequirement: Expected closing RIGHT_PARENTHESIS + requests (<3,>=2.12.*) ; extra == 'parse' + ~~~~~~~~~~^ +``` + +To fix the error, `setuptools` needs to be downgraded to version 66: + +```shell +pip uninstall setuptools +pip install -U setuptools=="66" +``` \ No newline at end of file