4ef2450efd0812268ae30457f8c5d2494821e5a3 max Thu Dec 5 04:56:51 2024 -0800 HGMD 2024 update, refs #34903 diff --git src/hg/makeDb/doc/hg38/ncbiRefSeq.txt src/hg/makeDb/doc/hg38/ncbiRefSeq.txt index 2589a94..601a838 100644 --- src/hg/makeDb/doc/hg38/ncbiRefSeq.txt +++ src/hg/makeDb/doc/hg38/ncbiRefSeq.txt @@ -209,40 +209,42 @@ # checked: 5682 failed: 0 ########## early experiment, not used later # # and the bigPsl file: # mkdir -p /gbdb/hg38/bbi/ncbiRefSeq # ln -s `pwd`/${asmName}.hg38.bigPsl.bb /gbdb/hg38/bbi/ncbiRefSeqBigPsl.bb # hgBbiDbLink hg38 ncbiRefSeqBigPsl /gbdb/hg38/bbi/ncbiRefSeqBigPsl.bb ########## early experiment, not used later ############################################################################# # addition of HGMD-restricted subset, Max, Jan 29 2019 # updated Dec 2019 # updated Dec 2020 # updated Aug 2023 # updated May 2024 -year=2023 +# updated Dec 2024 +year=2024 cd /hive/data/genomes/hg38/bed/ncbiRefSeq.p14.2023-11-23/ # change in 2019: ignore the version numbers, otherwise only 1815 transcripts left, big update by HGMD in 2019? # adding "." so NM_123 doesn't match NM_123123 cat /hive/data/outside/hgmd/$year.4-hgmd-public_hg38.tsv | cut -f7 | cut -d. -f1 | sort -u | awk '{print $1"."}' > hgmdTranscripts.txt zcat process/hg38.curated.gp.gz | fgrep -f hgmdTranscripts.txt - > hgmd.curated.gp hgLoadGenePred -genePredExt hg38 ncbiRefSeqHgmd hgmd.curated.gp # wc -l says: 10772 hgmd.curated.gp for the 2021 version 12602 hgmd.curated.gp for the 2023 version +15167 hgmd.curated.gp for the 2024 version ############################################################################# # ncbiRefSeq.p13 update (DONE - 2019-12-06 - Hiram) # current version information cat /gbdb/hg38/ncbiRefSeq/ncbiRefSeqVersion.txt # NCBI Homo sapiens Annotation Release 109 (2018-03-29) # Version information from the file: # /hive/data/outside/ncbi/genomes/refseq/vertebrate_mammalian/Homo_sapiens/ # all_assembly_versions/GCF_000001405.39_GRCh38.p13/ # GCF_000001405.39_GRCh38.p13_genomic.gff.gz #!annotation-date 09/05/2019 #!annotation-source NCBI Homo sapiens Updated Annotation Release 109.20190905