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re-add pathogenic VCF stubs
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MattWellie committed Jun 27, 2024
1 parent a825c1d commit c85ec6b
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2 changes: 2 additions & 0 deletions .bumpversion.cfg
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Expand Up @@ -4,3 +4,5 @@ commit = True
tag = False

[bumpversion:file:setup.py]

[bumpversion:file:Dockerfile]
2 changes: 1 addition & 1 deletion Dockerfile
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Expand Up @@ -15,4 +15,4 @@ RUN apt update && apt install -y \
rm -r /var/lib/apt/lists/* && \
rm -r /var/cache/apt/*

RUN pip install --no-cache-dir git+https://github.com/populationgenomics/automated-interpretation-pipeline.git@${RELEASE}
RUN pip install --no-cache-dir git+https://github.com/populationgenomics/ClinvArbitration.git@${RELEASE}
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8 changes: 4 additions & 4 deletions example_script.sh
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Expand Up @@ -3,7 +3,7 @@
set -ex

# create a docker image from this repository
docker build --platform linux/arm64/v8 -t hail_clinvar:example --platform linux/amd64 .
docker build --platform linux/arm64/v8 -t clinvarbitration:example --platform linux/amd64 .

# make local copies of the NCBI data files required as input using wget
# create a directory called data, if one doesn't already exist
Expand All @@ -14,7 +14,7 @@ fi
#wget -O data/submission_summary.txt.gz https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/submission_summary.txt.gz

# run the docker image to generate the summarised output
docker run -v "$(pwd)/data":/data hail_clinvar:example \
docker run -v "$(pwd)/data":/data clinvarbitration:example \
resummary -v "/data/variant_summary.txt.gz" -s "/data/submission_summary.txt.gz" -o "/data/clinvar_summary" --minimal

# upon completion, this will have generated files in the data directory:
Expand All @@ -26,8 +26,8 @@ docker run -v "$(pwd)/data":/data hail_clinvar:example \
## This is where you should run VEP on data/clinvar_summary.vcf.bgz, with protein consequence annotation per transcript
## Let's imagine you did that, and the result is in data/pathogenic_annotated.vcf.bgz
## I've enclosed a 10-variant example of this, as annotated by https://www.ensembl.org/Homo_sapiens/Tools/VEP
#docker run --platform linux/amd64 -v "$(pwd)/data":/data hail_clinvar:example \
# /bin/bash -c "python3 /clinvarbitration/clinvar_by_codon_from_vcf.py -i /data/pathogenic_annotated.vcf.bgz -o /data/pm5"
#docker run --platform linux/amd64 -v "$(pwd)/data":/data clinvarbitration:example \
# /bin/bash -c "python3 /clinvarbitration/clinvar_by_codon.py -i /data/pathogenic_annotated.vcf.bgz -o /data/pm5"

# upon completion, this will generate files in the data directory:
# - data/pm5.json - a JSON file containing the PM5 results, one JSON object per line
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