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Valider 5948438b rédigé par Pierre Lindenbaum's avatar Pierre Lindenbaum
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workflow downloading rare disease resources , but in the end it's just too much work

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/**
workflow downloading rare disease resources , but in the end it's just too much work
do not use for now
*/
workflow {
......@@ -15,10 +22,18 @@ workflow {
ch5 = DOWNLOAD_VARIANT_CATALOG()
ch6 = PAR_BED()
ch7 = GENMOD()
ch8 = SVDB()
ch9 = HGNC()
ch10 = TARGET_WGS()
MERGE_CONFIGS(ch3.output.
mix(ch5.output).
mix(ch6.output).
mix(ch7.output).
mix(ch8.output).
mix(ch9.output).
mix(ch10.output).
mix(ch1bis.output).
collect())
}
......@@ -167,6 +182,76 @@ touch par.flag
"""
}
process GENMOD {
executor "local"
output:
path("genmod.flag"),emit:output
script:
"""
mkdir -p "${params.outdir}/GENMOD"
wget -O "${params.outdir}/GENMOD/rank_model_snv.ini" "https://raw.githubusercontent.com/nf-core/test-datasets/refs/heads/raredisease/reference/rank_model_snv.ini"
touch genmod.flag
"""
}
process HGNC {
label "process_quick"
output:
path("hgnc.flag"),emit:output
script:
"""
set -o pipefail
mkdir -p "${params.outdir}/HGNC"
wget -qO - "https://storage.googleapis.com/public-download-files/hgnc/archive/archive/monthly/tsv/hgnc_complete_set_2025-05-06.txt" |\
cut -f 1 | cut -f 2 -d ':' | tail -n +2 | sort | uniq > ${params.outdir}/HGNC/hgnc.txt
touch hgnc.flag
"""
}
process SVDB {
executor "local"
output:
path("svdb.flag"),emit:output
script:
"""
mkdir -p "${params.outdir}/SVDB"
cat << EOF > "${params.outdir}/SVDB/svdb.cfg"
filename,in_freq_info_key,in_allele_count_info_key,out_freq_info_key,out_allele_count_info_key,use_in_freq_filter
${params.outdir}/SVDB/gnomad.v4.1.sv.sites.vcf.gz,AF,AC,gnomad_svAF,gnomad_svAC,1
EOF
wget -O ${params.outdir}/SVDB/gnomad.v4.1.sv.sites.vcf.gz "https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/genome_sv/gnomad.v4.1.sv.sites.vcf.gz"
touch svdb.flag
"""
}
process TARGET_WGS {
executor "local"
output:
path("target.wgs.flag"),emit:output
script:
def base="/LAB-DATA/GLiCID/projects/BiRD_resources/species/human/GRCh38/Homo_sapiens_assembly38"
"""
mkdir -p "${params.outdir}/TARGETS"
cat "${base}.dict" > ${params.outdir}/TARGETS/target_wgs.intervals_list
awk -F '\t' '(\$1 ~ /^(chr)?[0-9XY]\$/) {printf("%s\t1\t%s\t+\t.\\n",\$1,\$2);}' "${base}.fasta.fai" > ${params.outdir}/TARGETS/target_wgs.intervals_list
cat "${base}.dict" > ${params.outdir}/TARGETS/target_y.intervals_list
awk -F '\t' '(\$1 ~ /^(chr)?[Y]\$/) {printf("%s\t1\t%s\t+\t.\\n",\$1,\$2);}' "${base}.fasta.fai" > ${params.outdir}/TARGETS/target_y.intervals_list
touch target.wgs.flag
"""
}
process MERGE_CONFIGS {
executor "local"
input:
......@@ -184,6 +269,11 @@ params {
variant_catalog = "${params.outdir}/XHUNTER/variant_catalog_grch38.json"
par_bed = "${params.outdir}/PAR/par.bed"
vep_cache = "/LAB-DATA/GLiCID/projects/BiRD_resources/apps/vep"
score_config_snv = "${params.outdir}/GENMOD/rank_model_snv.ini"
svdb_query_dbs = "${params.outdir}/SVDB/svdb.cfg"
vep_filters = "${params.outdir}/HGNC/hgnc.txt"
intervals_wgs = "${params.outdir}/TARGETS/target_wgs.intervals_list"
intervals_y = "${params.outdir}/TARGETS/target_y.intervals_list"
}
EOF
"""
......
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