a85f07414441c0ad4d8310620fe5c40a33f2f5fd chmalee Tue Apr 21 11:12:07 2020 -0700 Changing lovd and clinvar otto scripts, structural variant cutoff is now >= 50bp, which brings gnomad, dbVar, clinvar, and lovd into harmony diff --git src/hg/utils/otto/lovd/checkAndLoad.sh src/hg/utils/otto/lovd/checkAndLoad.sh index cc32491..5d971ee 100755 --- src/hg/utils/otto/lovd/checkAndLoad.sh +++ src/hg/utils/otto/lovd/checkAndLoad.sh @@ -1,58 +1,58 @@ #!/bin/sh -e # Do not modify this script, modify the source tree copy: # src/utils/otto/lovd/check.sh # This script is used via a cron job umask 002 WORKDIR="/hive/data/outside/otto/lovd" TAWK=/cluster/bin/scripts/tawk KENTBIN=/cluster/bin/x86_64/ if [ ! -d "${WORKDIR}" ]; then echo "ERROR in lovd release, Can not find the directory: ${WORKDIR}" exit 255 fi cd "${WORKDIR}" today=`date +%F` cd $today # count columns and make sure new files have 6 columns new19Cc=`cat lovd.hg19.bed | $TAWK '(NF!=6)' | wc -l` #new18Cc=`cat lovd.hg18.bed | $TAWK '(NF!=6)' | wc -l` if [ "$new19Cc" -ne "0" ]; then echo LVOD hg19 $today: found rows with not six columns, quitting exit 255 fi #if [ "$new18Cc" -ne "0" ]; then # echo LVOD hg18 $today: found rows with not six columns, quitting # exit 255 #fi # compare old and new line counts and abort if no increase $KENTBIN/bedClip lovd.hg19.bed /cluster/data/hg19/chrom.sizes stdout | sed -e 's/^chrM/chrMT/g' > lovd.hg19.clipped.bed echo -cat lovd.hg19.clipped.bed | awk '(($3-$2)<=100)' > lovd.hg19.short.bed +cat lovd.hg19.clipped.bed | awk '(($3-$2)<50)' > lovd.hg19.short.bed echo -e 'chrM\t0\t16571\tCheck chrMT\tPlease look at chrMT, not chrM, for LOVD annotations.\t' >> lovd.hg19.short.bed -cat lovd.hg19.clipped.bed | awk '(($3-$2)>100)' > lovd.hg19.long.bed +cat lovd.hg19.clipped.bed | awk '(($3-$2)>=50)' > lovd.hg19.long.bed echo -e 'chrM\t0\t16571\tCheck chrMT\tPlease look at chrMT, not chrM, for LOVD annotations.\t' >> lovd.hg19.long.bed old19ShortLc=`$KENTBIN/hgsql hg19 -e "SELECT COUNT(*) from lovdShort" -NB` old19LongLc=`$KENTBIN/hgsql hg19 -e "SELECT COUNT(*) from lovdLong" -NB` new19ShortLc=`wc -l lovd.hg19.short.bed | cut -d' ' -f1 ` new19LongLc=`wc -l lovd.hg19.long.bed | cut -d' ' -f1 ` echo hg19 short rowcount: old $old19ShortLc new: $new19ShortLc echo hg19 long rowcount: old $old19LongLc new: $new19LongLc echo $old19ShortLc $new19ShortLc | awk '{if (($2-$1)/$1 > 0.1) {printf "validate on hg19 LOVD short failed: old count: %d, new count: %d\n", $1,$2; exit 1;}}' echo $old19LongLc $new19LongLc | awk '{if (($2-$1)/$1 > 0.1) {printf "validate on hg19 LOVD long failed: old count: %d, new count: %d\n", $1,$2; exit 1;}}' # bedDetail4.sql was generated like this: # egrep -v 'score|strand|thick|reserved|block|chromStarts' /cluster/home/max/kent/src/hg/lib/bedDetail.sql > bedDetail4.sql # need to use bedClip as current files include invalid coords which LOVD won't fix. #$KENTBIN/bedClip lovd.hg19.bed /cluster/data/hg19/chrom.sizes lovd.hg19.clipped.bed cat lovd.hg19.short.bed | $KENTBIN/hgLoadBed hg19 lovdShort stdin -tab -sqlTable=../bedDetail4.sql -renameSqlTable -noBin cat lovd.hg19.long.bed | $KENTBIN/hgLoadBed hg19 lovdLong stdin -tab -sqlTable=../bedDetail4.sql -renameSqlTable -noBin #$KENTBIN/bedClip lovd.hg18.bed /cluster/data/hg18/chrom.sizes stdout | $KENTBIN/hgLoadBed hg18 lovd stdin -tab -sqlTable=../bedDetail4.sql -renameSqlTable -noBin echo LOVD update: OK