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update documentation
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apriltuesday committed Dec 11, 2023
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Expand Up @@ -73,6 +73,7 @@ nextflow run ${CODE_ROOT}/pipelines/annotation_pipeline.nf \
--mappings ${LATEST_MAPPINGS} \
-resume
```
You can use the `--include_transcripts` flag to also include transcript annotations with the functional consequences.

By default, the pipeline will download and annotate the latest ClinVar XML dump from [FTP](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/). If you want to run it on an existing XML file, you can pass it via the `--clinvar` flag.

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Expand Up @@ -249,7 +249,7 @@ def main(clinvar_xml, include_transcripts, output_consequences=None, output_data
Args:
clinvar_xml: filepath to the ClinVar XML file.
include_transcripts:
include_transcripts: whether to include transcript IDs along with consequence terms.
output_consequences: filepath to the output file with variant consequences. The file uses a 6-column format
compatible with the VEP mapping pipeline (see /consequence_prediction/README.md).
output_dataframe: filepath to the output file with the full dataframe used in the analysis. This will contain
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