3d9187d264d00ee8e681521bc2c942ee2527d4f1 max Wed May 13 07:33:38 2026 -0700 varFreqs: add WBBC (Westlake BioBank for Chinese) subtrack from the Phase I v20210103 release: 4,480 WGS samples, 78.6M variants, per-region frequencies for the 4 Han Chinese geographic subgroups (North/Central/South/Lingnan). databases.tsv + populations.tsv updated for the next varFreqsAll rebuild. refs #36642 Co-Authored-By: Claude Opus 4.7 (1M context) <noreply@anthropic.com> diff --git src/hg/makeDb/doc/hg38/varFreqs.txt src/hg/makeDb/doc/hg38/varFreqs.txt index 9fc3d9b5834..39cd22e14e6 100644 --- src/hg/makeDb/doc/hg38/varFreqs.txt +++ src/hg/makeDb/doc/hg38/varFreqs.txt @@ -548,15 +548,57 @@ ' ukbb.hg38.unsorted.vcf > header.vcf awk -F'\t' 'BEGIN{OFS="\t"} !/^#/ && $1 ~ /^chr([1-9]|1[0-9]|2[0-2]|X|Y|M)$/ {print}' \ ukbb.hg38.unsorted.vcf > body.vcf cat header.vcf body.vcf > ukbb.hg38.canon.vcf # 13,743,085 variants survive (1,834 of the lifted variants landed on # alt/random/Un/fix contigs and were dropped). # Step 4: sort, bgzip, tabix. bcftools sort ukbb.hg38.canon.vcf -Oz -m 16G -T /data/tmp/ -o ukbb.vcf.gz tabix -p vcf ukbb.vcf.gz rm -f ukbb.hg19.vcf ukbb.hg38.unsorted.vcf ukbb.hg38.unsorted.vcf.unmap \ ukbb.hg38.canon.vcf header.vcf body.vcf # Final: 551 MB bgzip + 1.7 MB tabix index, 13,743,085 variants. # 48,382 of the 13,791,467 source rows (0.35%) are not represented in # hg38: 39,659 had AC=0 (panel-only), 6,889 failed CrossMap, 1,834 # lifted to non-canonical contigs. + +########## +# 2026-05-13 Claude max +# Westlake BioBank for Chinese (WBBC) WGS allele frequencies, refs #36642. +# +# 4,480 WGS samples sequenced to ~13.9x at Westlake University. The pilot +# project has been folded into the larger China Precision BioBank (CPBB); +# the variant file we host is unchanged from the WBBC Phase I v20210103 +# release. Paper: Cong et al. 2022 Nat Commun, PMID 35618720. +# +# Source: 22 per-chromosome sites-only VCFs already on GRCh38 with +# chr-prefixed chromosomes (autosomes only - no chrX/Y in the download). +# INFO fields ship cohort AC/AF/AN/NS plus per-region AC/AN for the four +# Han Chinese geographic subgroups (North, Central, South, Lingnan) plus +# per-genotype RR|RA|AA counts, total DP and the GATK VQSLOD score. +cd /hive/data/genomes/hg38/bed/varFreqs/westlakeChina/download +for i in $(seq 1 22); do wget -nv https://wbbc.westlake.edu.cn/data/WBBC.chr$i.GRCh38.vcf.gz; done +# bcftools concat needs tabix indices when the per-chrom VCFs lack +# ##contig header lines (they do here). +parallel -j 8 tabix -p vcf {} ::: WBBC.chr{1..22}.GRCh38.vcf.gz +cd /hive/data/genomes/hg38/bed/varFreqs/westlakeChina +bcftools concat --threads 8 -Oz -o wbbc.allChrom.vcf.gz \ + download/WBBC.chr{1..22}.GRCh38.vcf.gz +# Stream re-header + filter AC=0. The Python helper inserts proper +# ##contig (with lengths) and ##INFO lines, drops the dangling +# SHAPEIT FORMAT line, and skips any row whose INFO starts AC=0;. +zcat wbbc.allChrom.vcf.gz \ + | python3 ~/kent/src/hg/makeDb/scripts/varFreqs/wbbcFix.py \ + | bgzip -@ 8 -c > wbbc.vcf.gz +tabix -p vcf wbbc.vcf.gz +rm -f wbbc.allChrom.vcf.gz +# Final: 2.2 GB bgzip + 2.2 MB tabix index, 78,594,274 variants. +# 1,495,967 rows (~1.86%) with AC=0 were dropped. +# Symlinks placed under /gbdb/hg38/varFreqs/wbbc/ for the wbbc stanza +# in trackDb/human/varFreqs.ra. +# +# databases.tsv and populations.tsv now list WBBC + the four Han +# regional groups, so the next varFreqsAll rebuild will pick the cohort +# up. The trackDb filter UI (filterByRange.WBBCAF etc.) was deliberately +# NOT added yet - those will be added together with the next rebuild +# of varFreqsAll, otherwise the filters would appear in the UI before +# the underlying bigBed has the columns.