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feat: allow providing clinvar version (#17)
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holtgrewe committed Jun 21, 2023
1 parent 6e7ac01 commit dd80f2d
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Showing 2 changed files with 8 additions and 13 deletions.
20 changes: 7 additions & 13 deletions clinvar_tsv/Snakefile
@@ -1,5 +1,9 @@
import os
import os.path

#: ClinVar version to download.
CLINVAR_VERSION = os.environ.get("CLINVAR_VERSION")

#: Path to b37/b38 FASTA file
REF = {
'b37': config.get('b37_path', '/dev/null'),
Expand All @@ -18,27 +22,17 @@ rule default:


rule download_xml:
output: "downloads/ClinVarFullRelease_00-latest.xml.gz"
shell:
r"""
wget -c -N -O {output} ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/ClinVarFullRelease_00-latest.xml.gz \
2> {output}.log
"""


rule download_txt:
output: "downloads/variant_summary.txt.gz"
output: "downloads/ClinVarFullRelease_{clinvar_version}.xml.gz"
shell:
r"""
wget -c -N -O {output} ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/variant_summary.txt.gz \
wget -c -N -O {output} https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/weekly_release/ClinVarFullRelease_{wildcards.clinvar_version}.xml.gz \
2> {output}.log
"""


rule parse_clinvar:
input:
release_xml="downloads/ClinVarFullRelease_00-latest.xml.gz",
summary="downloads/variant_summary.txt.gz",
release_xml=f"downloads/ClinVarFullRelease_{CLINVAR_VERSION}.xml.gz"
output:
b37_small="parsed/clinvar_table_raw.b37.tsv",
b37_sv="parsed/clinvar_sv.b37.tsv",
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1 change: 1 addition & 0 deletions clinvar_tsv/__main__.py
Expand Up @@ -182,6 +182,7 @@ def main(argv=None):
parser_merge_tsvs.set_defaults(func=run_merge_tsvs)

args = parser.parse_args(argv)
os.environ["CLINVAR_VERSION"] = args.clinvar_version
return run(args)


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