e9a2b5a28cb4e3970977c76d84649bdd339a8423 lrnassar Thu Jul 30 17:00:51 2026 -0700 Address popEVE code-review feedback (v502). refs #37950 refs #37791 - popEve.ra dataVersion now names the score source (March per-transcript release) and the July VCF as the coordinate/strand source, rather than only the VCF date. - vcfToPopEveHeatmap.py: when the CSV wildtype disagrees with the genomic wildtype, skip the position and keep the correct sparse data instead of attaching CSV scores computed for a different residue; skip CSV rows with a nan/empty popEVE; add a posSparse counter for positions with genomic coordinates but no CSV row. All three are 0 on the current data, so the bigBed output is unchanged (verified byte-identical), but they make the converter fail safe for future per-transcript releases. - Add the build drivers runBuild.sh and runBuildDense.sh to the tree (the anchor computation previously lived only in the hive build directory), and add a makedoc forward-pointer so the intermediate sparse section is not mistaken for the final dense build. diff --git src/hg/makeDb/scripts/popEve/runBuildDense.sh src/hg/makeDb/scripts/popEve/runBuildDense.sh new file mode 100755 index 00000000000..da38ba26f2e --- /dev/null +++ src/hg/makeDb/scripts/popEve/runBuildDense.sh @@ -0,0 +1,44 @@ +#!/bin/bash +# popEVE hg38 DENSE build: full per-amino-acid matrix from the transcript CSVs, with +# genomic coordinates reused from the VCF-derived popEve_sorted.tsv. Proteins absent from +# the CSV fall back to the sparse (single-nucleotide-reachable) VCF scores. +set -e +export PATH=$PATH:$HOME/bin/x86_64 +cd /hive/data/genomes/hg38/bed/popEve +KS=$HOME/kent/src/hg/makeDb/scripts/popEve +CSVDIR=/hive/data/outside/popEve/popeve_csv/popEVE_ukbb_20250312 +CHROMSIZES=/hive/data/genomes/hg38/chrom.sizes + +echo "[$(date +%T)] 1. proteins not in the CSV (sparse fallback)" +ls "$CSVDIR" | sed 's/\.csv$//' | sort -u > csv_prots.txt +cut -f1 popEve_sorted.tsv | sort -u > all_prots.txt +comm -13 csv_prots.txt all_prots.txt > noncsv_prots.txt +echo " CSV proteins: $(wc -l < csv_prots.txt) non-CSV (sparse): $(wc -l < noncsv_prots.txt)" + +echo "[$(date +%T)] 2. color anchors over the full matrix" +find "$CSVDIR" -name '*.csv' -print0 | xargs -0 awk -F, 'FNR>1 && $3!="nan" && $3!="" {print $3}' > allscores.txt +awk -F'\t' 'NR==FNR{np[$1];next} ($1 in np) && $8!="nan" && $8!="" {print $8}' \ + noncsv_prots.txt popEve_sorted.tsv >> allscores.txt +echo " score values: $(wc -l < allscores.txt)" +sort -n -S 4G -T sorttmp allscores.txt > allscores_sorted.txt +N=$(wc -l < allscores_sorted.txt) +LOI=$(( (N-1)*5/1000 + 1 )) # p0.5 (1-based line) +HII=$(( (N-1)*995/1000 + 1 )) # p99.5 +MEDI=$(( (N-1)/2 + 1 )) +LO=$(awk -v i=$LOI 'NR==i{printf "%.3f",$1; exit}' allscores_sorted.txt) +HI=$(awk -v i=$HII 'NR==i{printf "%.3f",$1; exit}' allscores_sorted.txt) +MED=$(awk -v i=$MEDI 'NR==i{printf "%.3f",$1; exit}' allscores_sorted.txt) +echo "$LO $HI" > anchorsDense.txt +echo " n=$N p0.5=$LO median=$MED p99.5=$HI" + +echo "[$(date +%T)] 3. convert (dense)" +python3 $KS/vcfToPopEveHeatmap.py popEve_sorted.tsv np_strand.tsv popEve_dense_raw.bed \ + $LO $HI "$CSVDIR" 2> convert_dense.log +tail -1 convert_dense.log + +echo "[$(date +%T)] 4. bedSort + filter + bigBed" +bedSort popEve_dense_raw.bed popEve_dense_sorted.bed +awk 'NR==FNR{ok[$1]=1;next} $1 in ok' $CHROMSIZES popEve_dense_sorted.bed > popEve_dense_filtered.bed +bedToBigBed -type=bed12+ -tab -as=$KS/popEve_heatmap.as popEve_dense_filtered.bed \ + $CHROMSIZES popEve.bb 2>&1 | tail -1 +echo "[$(date +%T)] done; proteins=$(wc -l < popEve_dense_filtered.bed) size=$(stat -c %s popEve.bb)"