4bd3913b145415c4d24d5c6b2fa9ee5b966257c5 chmalee Fri Jul 31 11:44:52 2020 -0700 More clinGen dosage changes after extrernal feedback, refs #24818 diff --git src/hg/utils/otto/clinGen/makeDosage.sh src/hg/utils/otto/clinGen/makeDosage.sh index 8704a59..2ab4e24 100755 --- src/hg/utils/otto/clinGen/makeDosage.sh +++ src/hg/utils/otto/clinGen/makeDosage.sh @@ -23,43 +23,45 @@ # connect and list a directory, result to file: ls.check ftp -n -v -i ftp.clinicalgenome.org 2>&1 < ftp.dosage.cmds &> ls.check grep "haplo\|triplo\|curation" ls.check | sort > release.list || echo "Error - no bed files found" # see if anything is changing, if so, notify, download, and build diff prev.release.list release.list > release.diff || true count=`wc -l release.diff | cut -d' ' -f1` if [ "${count}" -gt 1 ] then echo "New ClinGen Dosage update" today=`date +%F` mkdir -p ${today}/{download,output} cd ${today}/download for grc in GRCh37 GRCh38 do - wget -N -q "ftp://ftp.clinicalgenome.org/ClinGen_haploinsufficiency_gene_${grc}.bed" - wget -N -q "ftp://ftp.clinicalgenome.org/ClinGen_triplosensitivity_gene_${grc}.bed" wget -N -q "ftp://ftp.clinicalgenome.org/ClinGen_region_curation_list_${grc}.tsv" wget -N -q "ftp://ftp.clinicalgenome.org/ClinGen_gene_curation_list_${grc}.tsv" if [ ${grc} == "GRCh37" ] then echo $grc - ../../../processClinGenDosage.py ClinGen_haploinsufficiency_gene_${grc}.bed ClinGen_gene_curation_list_${grc}.tsv haplo | sort -k1,1 -k2,2n > ../output/hg19.clinGenHaplo.bed - ../../../processClinGenDosage.py ClinGen_triplosensitivity_gene_${grc}.bed ClinGen_gene_curation_list_${grc}.tsv triplo | sort -k1,1 -k2,2n > ../output/hg19.clinGenTriplo.bed - bedToBigBed -type=bed9+10 -as=../../clinGenDosageHaplo.as -tab ../output/hg19.clinGenHaplo.bed /hive/data/genomes/hg19/chrom.sizes ../output/hg19.clinGenHaplo.bb - bedToBigBed -type=bed9+10 -as=../../clinGenDosageTriplo.as -tab ../output/hg19.clinGenTriplo.bed /hive/data/genomes/hg19/chrom.sizes ../output/hg19.clinGenTriplo.bb + # the process script creates a haplo.bed and triplo.bed file: + ../../../processClinGenDosage.py ClinGen_region_curation_list_${grc}.tsv ClinGen_gene_curation_list_${grc}.tsv ../output/hg19 + sort -k1,1 -k2,2n ../output/hg19.haplo.bed > ../output/hg19.clinGenHaplo.bed + sort -k1,1 -k2,2n ../output/hg19.triplo.bed > ../output/hg19.clinGenTriplo.bed + bedToBigBed -type=bed9+13 -as=../../clinGenDosageHaplo.as -tab ../output/hg19.clinGenHaplo.bed /hive/data/genomes/hg19/chrom.sizes ../output/hg19.clinGenHaplo.bb + bedToBigBed -type=bed9+13 -as=../../clinGenDosageTriplo.as -tab ../output/hg19.clinGenTriplo.bed /hive/data/genomes/hg19/chrom.sizes ../output/hg19.clinGenTriplo.bb cp ../output/hg19.clinGenHaplo.bb ${WORKDIR}/release/hg19/clinGenHaplo.bb cp ../output/hg19.clinGenTriplo.bb ${WORKDIR}/release/hg19/clinGenTriplo.bb elif [ ${grc} == "GRCh38" ] then echo $grc - ../../../processClinGenDosage.py ClinGen_haploinsufficiency_gene_${grc}.bed ClinGen_gene_curation_list_${grc}.tsv haplo | sort -k1,1 -k2,2n > ../output/hg38.clinGenHaplo.bed - ../../../processClinGenDosage.py ClinGen_triplosensitivity_gene_${grc}.bed ClinGen_gene_curation_list_${grc}.tsv triplo | sort -k1,1 -k2,2n > ../output/hg38.clinGenTriplo.bed - bedToBigBed -type=bed9+10 -as=../../clinGenDosageHaplo.as -tab ../output/hg38.clinGenHaplo.bed /hive/data/genomes/hg38/chrom.sizes ../output/hg38.clinGenHaplo.bb - bedToBigBed -type=bed9+10 -as=../../clinGenDosageTriplo.as -tab ../output/hg38.clinGenTriplo.bed /hive/data/genomes/hg38/chrom.sizes ../output/hg38.clinGenTriplo.bb + # the process script creates a haplo.bed and triplo.bed file: + ../../../processClinGenDosage.py ClinGen_region_curation_list_${grc}.tsv ClinGen_gene_curation_list_${grc}.tsv ../output/hg38 + sort -k1,1 -k2,2n ../output/hg38.haplo.bed > ../output/hg38.clinGenHaplo.bed + sort -k1,1 -k2,2n ../output/hg38.triplo.bed > ../output/hg38.clinGenTriplo.bed + bedToBigBed -type=bed9+13 -as=../../clinGenDosageHaplo.as -tab ../output/hg38.clinGenHaplo.bed /hive/data/genomes/hg38/chrom.sizes ../output/hg38.clinGenHaplo.bb + bedToBigBed -type=bed9+13 -as=../../clinGenDosageTriplo.as -tab ../output/hg38.clinGenTriplo.bed /hive/data/genomes/hg38/chrom.sizes ../output/hg38.clinGenTriplo.bb cp ../output/hg38.clinGenHaplo.bb ${WORKDIR}/release/hg38/clinGenHaplo.bb cp ../output/hg38.clinGenTriplo.bb ${WORKDIR}/release/hg38/clinGenTriplo.bb fi done cd ../.. else echo "No ClinGen CNV update" fi