7094f49ccc894883750c839779223e4039e0bd16 max Thu Jan 29 14:58:17 2026 -0800 adding gnomad coverage track, refs #37036 diff --git src/hg/makeDb/doc/hg38/gnomad.txt src/hg/makeDb/doc/hg38/gnomad.txt index b7b0aab8073..4a46431a568 100644 --- src/hg/makeDb/doc/hg38/gnomad.txt +++ src/hg/makeDb/doc/hg38/gnomad.txt @@ -690,71 +690,48 @@ # Remade the bed9Plus using the updated awk file gnomadSvToUcsc_mod.FILTER.awk to add the FILTER field and update the mouseOver: for f in gnomad.v4.1.sv.non_neuro_controls.sites.bed4Plus_FILTER; do out=${f/.bed4Plus_FILTER/}; bedClip -truncate $f /hive/data/genomes/hg38/chrom.sizes stdout | ./gnomadSvToUcsc_mod.FILTER.awk | sort -k1,1 -k2,2n > $out.bed9Plus_FILTER; done # Added the FILTER field to the as file and named it gnomadSvMod_FILTER.as # Changed the name of the previous bigBed and Remade the bigBed with the FILTER: mv gnomad.v4.1.sv.non_neuro_controls.sites.bb gnomad.v4.1.sv.non_neuro_controls.sites_old_Aug_1_2024_.bb for f in gnomad.v4.1.sv.non_neuro_controls.sites.bed9Plus_FILTER; do out=${f/.bed9Plus_FILTER/}; bedToBigBed -tab -type=bed9+30 -as=gnomadSvMod_FILTER.as -extraIndex=name $f /hive/data/genomes/hg38/chrom.sizes $out.bb; done # Added the filter trackDb setting to the gnomadStructuralVariants stanza in human/hg38/gnomad.ra: filterValues.FILTER PASS,HIGH_NCR,IGH_MHC_OVERLAP,UNRESOLVED,REFERENCE_ARTIFACT filterValuesDefault.FILTER PASS filterType.FILTER multipleListAnd ############################################################################## -# gnomAD Coverage v3.0.1 - Jan 28, 2025 - max +# gnomAD Coverage v3.0.1 - Jan 28, 2026 - max ############################################################################## # Coverage data from gnomAD genomes v3.0.1 # Source: https://gnomad.broadinstitute.org/downloads#v3-coverage -cd /hive/data/genomes/hg38/bed/gnomad/coverage +cd /hive/data/genomes/hg38/bed/gnomad/coverage/v3-genome # Download coverage summary file wget https://storage.googleapis.com/gcp-public-data--gnomad/release/3.0.1/coverage/genomes/gnomad.genomes.r3.0.1.coverage.summary.tsv.bgz -# Create chromosome sizes file (gnomAD uses only main chromosomes) -cat > gnomad.chrom.sizes << 'EOF' -chr1 248956422 -chr2 242193529 -chr3 198295559 -chr4 190214555 -chr5 181538259 -chr6 170805979 -chr7 159345973 -chr8 145138636 -chr9 138394717 -chr10 133797422 -chr11 135086622 -chr12 133275309 -chr13 114364328 -chr14 107043718 -chr15 101991189 -chr16 90338345 -chr17 83257441 -chr18 80373285 -chr19 58617616 -chr20 64444167 -chr21 46709983 -chr22 50818468 -chrX 156040895 -EOF - # Convert TSV to bigWig files using Python script -python3 ~/kent/src/hg/makeDb/scripts/gnomadCovToBw.py -# Creates 11 bigWig files: -# gnomad.coverage.mean.bw - Mean coverage -# gnomad.coverage.median.bw - Median coverage -# gnomad.coverage.over_1.bw - Fraction of samples with >= 1X coverage -# gnomad.coverage.over_5.bw - Fraction of samples with >= 5X coverage -# gnomad.coverage.over_10.bw - Fraction of samples with >= 10X coverage -# gnomad.coverage.over_15.bw - Fraction of samples with >= 15X coverage -# gnomad.coverage.over_20.bw - Fraction of samples with >= 20X coverage -# gnomad.coverage.over_25.bw - Fraction of samples with >= 25X coverage -# gnomad.coverage.over_30.bw - Fraction of samples with >= 30X coverage -# gnomad.coverage.over_50.bw - Fraction of samples with >= 50X coverage -# gnomad.coverage.over_100.bw - Fraction of samples with >= 100X coverage +python3 ~/kent/src/hg/makeDb/scripts/gnomadCovToBw.py gnomad.genomes.r3.0.1.coverage.summary.tsv.bgz +# Creates 11 bigWig files # Create symlinks in /gbdb -mkdir -p /gbdb/hg38/gnomAD/coverage +mkdir -p /gbdb/hg38/gnomAD/coverage/v3-genome/ cd /gbdb/hg38/gnomAD/coverage for f in /hive/data/genomes/hg38/bed/gnomad/coverage/*.bw; do ln -sf "$f" .; done + +############################################################################## +# gnomAD Exome Coverage v4 - Jan 29, 2026 - max +############################################################################## +# Coverage data from gnomAD exomes v4 +# Source: https://gnomad.broadinstitute.org/downloads#v4-coverage + +cd /hive/data/genomes/hg38/bed/gnomad/coverage/v4-exome/ + +# Download coverage summary file +aria2c -x10 https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/coverage/exomes/gnomad.exomes.v4.0.coverage.summary.tsv.bgz + +# Convert TSV to bigWig files using Python script +python3 ~/kent/src/hg/makeDb/scripts/gnomadCovToBw.py gnomad.exomes.v4.0.coverage.summary.tsv.bgz +# Creates 11 bigWig files