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make work in practice
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holtgrewe committed May 2, 2023
1 parent e6d3b10 commit db04420
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Showing 4 changed files with 4 additions and 13 deletions.
2 changes: 0 additions & 2 deletions snappy_pipeline/workflows/varfish_export/__init__.py
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Expand Up @@ -391,8 +391,6 @@ def _get_output_files_annotate_strucvars(self):
work_paths = {
"gts": f"{prefix}.gts.tsv.gz",
"gts_md5": f"{prefix}.gts.tsv.gz.md5",
"feature_effects": f"{prefix}.feature-effects.tsv.gz",
"feature_effects_md5": f"{prefix}.feature-effects.tsv.gz.md5",
"db_infos": f"{prefix}.db-infos.tsv.gz",
"db_infos_md5": f"{prefix}.db-infos.tsv.gz.md5",
}
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7 changes: 2 additions & 5 deletions snappy_wrappers/wrappers/mehari/annotate_seqvars/wrapper.py
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Expand Up @@ -75,19 +75,16 @@
ln -sr {snakemake.input.vcf}.tbi $TMPDIR/tmp.vcf.gz.tbi
fi
release=$(echo {export_config[release]} | tr '[:upper:]' '[:lower:]')
# Perform Mehari sequence variant annotation.
mehari \
annotate \
seqvars \
--release ${release} \
--path-db {export_config[path_mehari_db]} \
--path-input-ped {snakemake.input.ped} \
--path-input-vcf $TMPDIR/tmp.vcf.gz \
--path-output-tsv >(gzip -c > {snakemake.output.gts})
--path-output-tsv {snakemake.output.gts}
cat | gzip -c > {snakemake.output.db-infos} <<EOF
cat <<EOF | gzip -c > {snakemake.output.db_infos}
genomebuild db_name release
GRCh37 clinvar 20210728
GRCh37 gnomad_exomes r2.1.1
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Expand Up @@ -103,20 +103,16 @@
done) \
--path-output-tsv >(gzip -c > {snakemake.output.gts})
cat | gzip -c > {snakemake.output.db-infos} <<EOF
cat <<EOF | gzip -c > {snakemake.output.db_infos}
genomebuild db_name release
GRCh37 clinvar 20210728
GRCh37 gnomad_exomes r2.1.1
GRCh37 gnomad_genomes r2.1.1
EOF
# Copy out PED file to output
cp -H {snakemake.input.ped} {snakemake.output.ped}
# Compute MD5 sums on output files
compute-md5 {snakemake.output.db_infos} {snakemake.output.db_infos_md5}
compute-md5 {snakemake.output.gts} {snakemake.output.gts_md5}
compute-md5 {snakemake.output.feature_effects} {snakemake.output.feature_effects_md5}
# Create output links -----------------------------------------------------------------------------
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2 changes: 1 addition & 1 deletion snappy_wrappers/wrappers/mehari/environment.yaml
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Expand Up @@ -5,7 +5,7 @@ dependencies:
- bcftools >=1.9
- htslib >=1.9
- samtools >=1.9
- mehari ==0.2.0
- mehari ==0.2.1
- jq
- vcfpy
- pysam

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