fc0444e2770896dfa3e5d4c60b3ef4d506036183 gperez2 Thu Jan 29 11:41:50 2026 -0800 Updating the makedoc about the change in the script, which automatically detects and uses the most recent ncbiRefSeq patch version available, refs #36779 diff --git src/hg/makeDb/doc/hg38/hgmd.txt src/hg/makeDb/doc/hg38/hgmd.txt index 4f110d0df28..02e8092528f 100644 --- src/hg/makeDb/doc/hg38/hgmd.txt +++ src/hg/makeDb/doc/hg38/hgmd.txt @@ -1,57 +1,59 @@ # got hgmd 2017 from Frank Schacherer Frank.Schacherer@qiagen.com and Rupert Yip Rupert.Yip@qiagen.com # update 2019 Max # update 2020 Max # update 2021 Max # update 2023 Max # update 2024 Max cd /hive/data/genomes/hg38/bed/hgmd year=2024 cat /hive/data/outside/hgmd/$year.4-hgmd-public_hg38.tsv | grep -v \# | tawk '{if ($5=="I") {start=$4-1; end=$4+1; col="100,100,100"} else if ($5=="D") {start=$4-1; end=$4; col="170,170,170"} else {start=$4-1; end=$4; col="0,0,0"}; print "chr"$3,start,end,$2":"$1,0,".",start,end,col,$2,$1,$5}' | sed -e 's/M$/substitution/' | sed -e 's/I$/insertion (between the two basepairs, sequence not provided by HGMD)/' | sed -e 's/D$/deletion (endpoint not provided by HGMD)/' | sed -e 's/X$/insertion-deletion (endpoint not provided by HGMD)/' | sed -e 's/R$/regulatory variant/' | sed -e 's/S$/splicing variant/' | sort -k1,1 -k2,2n > hgmd.bed # wc -l says: # for 2021: 210260 hgmd.bed # 2023: 261922 hgmd.bed # 2024: 301458 hgmd.bed bedToBigBed hgmd.bed /hive/data/genomes/hg38/chrom.sizes hgmd.bb -type=bed9+ -as=hgmd.as -tab ln -s /hive/data/genomes/hg38/bed/hgmd/hgmd.bb /gbdb/hg38/bbi/hgmd.bb hgBbiDbLink hg38 hgmd /gbdb/hg38/bbi/hgmd.bb # also update: the hg19/hg38 RefSeq HGMD subtracks # also update: hgmd on hg19, hgBeacon, the hgmd file for GBIB, see hg19.txt # for this, jump now to hg38/ncbiRefSeq.txt and hg19.txt # HGMD 2025.4 release files from Elias.Hage@qiagen.com (updated 01/17/25 Gerardo) # Made a script using claude.ai that automates HGMD data processing for hg38 and hg19. # Location: ~/kent/src/hg/makeDb/scripts/hgmd/process_hgmd.py # What the script does: # 1. Creates BED files from HGMD TSV data with variant classifications # 2. Converts BED to BigBed format # 3. Creates symlinks in /gbdb/{db}/bbi/ # 4. Registers BigBed files with hgBbiDbLink # 5. Extracts transcript IDs from hg38 HGMD file (column 7) # 6. Filters ncbiRefSeq gene predictions to HGMD transcripts only # 7. Loads filtered gene predictions into ncbiRefSeqHgmd table # # Key features: # - Always uses hg38 file for transcript extraction (hg19 file lacks column 7) -# - Auto-detects ncbiRefSeq version: p13 for hg19, p14 for hg38 +# - Auto-detects and selects latest ncbiRefSeq patch version (p15, p14, p13, etc.) # - Falls back to previous years if specified year's ncbiRefSeq not found +# - Uses regex pattern matching to extract version and date from directory names +# Example: "ncbiRefSeq.p14.2025-08-13" -> extracts "p14" and "2025-08-13" # wc -l: # 332094 /hive/data/genomes/hg38/bed/hgmd/hgmd.bed # wc -l: # 15691 /hive/data/genomes/hg38/bed/hgmd/ncbiRefSeq.p14.2025-08-13/hgmd.curated.gp # Usage: python3 ~/kent/src/hg/makeDb/scripts/hgmd/process_hgmd.py --year 2025 --db hg38 # Sample output: # hg38 BigBed completed successfully! # Output files: /hive/data/genomes/hg38/bed/hgmd/hgmd.bed, /hive/data/genomes/hg38/bed/hgmd/hgmd.bb # Symlink created: /gbdb/hg38/bbi/hgmd.bb # hgBbiDbLink run: hgBbiDbLink hg38 hgmd /gbdb/hg38/bbi/hgmd.bb # hg38 transcript processing completed! # Output files: /hive/data/genomes/hg38/bed/hgmd/ncbiRefSeq.p14.2025-08-13/hgmdTranscripts.txt, /hive/data/genomes/hg38/bed/hgmd/ncbiRefSeq.p14.2025-08-13/hgmd.curated.gp # hgLoadGenePred run: hgLoadGenePred -genePredExt hg38 ncbiRefSeqHgmd hgmd.curated.gp #############################################################################