f350ebff8f2cc1e0772032e59e926b5e45b374cd lrnassar Tue May 5 16:18:28 2026 -0700 Adding ClinPred missense pathogenicity score track on hg19 and hg38. refs #37510 ClinPred (Alirezaie et al, AJHG 2018) joins the predictionScoresSuper supertrack as a composite of four bigWigs, one per alternate base, with a per-position color overlay (red for score >= 0.5 likely pathogenic, blue for < 0.5 likely benign). Adds clinPredToWig.py to convert the upstream score table to wig, a clinPred branch in makeWigColorByRevelCadd.py for the color overlay step, and reciprocal relatedTracks entries to REVEL, CADD, PrimateAI-3D, and AlphaMissense. Also adds Display Conventions and Credits entries in predictionScoresSuper.html for ClinPred, PrimateAI-3D, and PromoterAI. diff --git src/hg/makeDb/doc/hg19.txt src/hg/makeDb/doc/hg19.txt index 063dad39988..0c38157241a 100644 --- src/hg/makeDb/doc/hg19.txt +++ src/hg/makeDb/doc/hg19.txt @@ -36012,15 +36012,47 @@ # gnomad MPC 2025-10-17 max cd /hive/data/genomes/hg19/bed/gnomad/mpc wget https://storage.googleapis.com/gcp-public-data--gnomad/release/2.1.1/regional_missense_constraint/gnomAD_v2.1.1_transcripts_with_rmc.tsv cat gnomAD_v2.1.1_transcripts_with_rmc.tsv | python ~/kent/src/hg/makeDb/gnomad/gnomadMpcToBed.py | sort -k1,2n > mpc.bed bedToBigBed mpc.bed ../../../chrom.sizes mpc.bb -as=~/kent/src/hg/makeDb/gnomad/mpc.as -type=bed9+ -tab ############################################################################# # variant frequencies, 2025-11-07, Max cd /hive/data/genomes/hg19/bed/varFreqs/mexbb/ # got files as-is from Carmina cd /hive/data/genomes/hg19/bed/varFreqs/sgdp/ https://sharehost.hms.harvard.edu/genetics/reich_lab/sgdp/vcf_variants/vcfs.variants.public_samples.279samples.tar tar xvfz *.tar ls *.vcf.gz > vcf.list bcftools merge -l vcf.list -O z -o SGDP.nh2.vcf.gz --threads 20 tabix -p vcf SGDP.nh2.vcf.gz + +############################################################################# +# ClinPred missense pathogenicity scores, RM #37510, 2026-05-05, Lou + +mkdir -p /hive/data/genomes/hg19/bed/clinPred +cd /hive/data/genomes/hg19/bed/clinPred + +# Downloaded from https://sites.google.com/site/clinpred/ on May 5, 2026. +# The ClinPred site links to a Google Drive file; bypass the virus-scan +# interstitial with confirm=t to fetch directly: +curl -L -o ClinPred.txt \ + "https://drive.usercontent.google.com/download?id=1Rh696VtfU4BBI33EltsW5BltOCDqc8Q4&export=download&confirm=t" + +# Input is tab-separated: Chr Start Ref Alt ClinPred_Score (1-based positions, +# no chr prefix, three rows per scored exome position). +time python3 ~/kent/src/hg/makeDb/clinPred/clinPredToWig.py \ + /hive/data/genomes/hg19/chrom.sizes ClinPred.txt + +wigToBigWig a.wig /hive/data/genomes/hg19/chrom.sizes a.bw & +wigToBigWig c.wig /hive/data/genomes/hg19/chrom.sizes c.bw & +wigToBigWig g.wig /hive/data/genomes/hg19/chrom.sizes g.bw & +wigToBigWig t.wig /hive/data/genomes/hg19/chrom.sizes t.bw & +wait +rm -f *.wig + +# Color overlays generated with: +~/kent/src/hg/makeDb/scripts/wigColorByColors/makeWigColorByRevelCadd.py + +# Install to /gbdb: +mkdir -p /gbdb/hg19/clinPred +ln -s /hive/data/genomes/hg19/bed/clinPred/{a,c,g,t}.bw /gbdb/hg19/clinPred/ +ln -s /hive/data/genomes/hg19/bed/clinPred/{a,c,g,t}.color.bb /gbdb/hg19/clinPred/