4517be681f866a76adedd0aee1203b1028ff7511 hiram Thu Feb 6 15:12:46 2020 -0800 begin documentation for doseSensitivity track refs #24818 diff --git src/hg/makeDb/doc/hg19.txt src/hg/makeDb/doc/hg19.txt index b64bdcc..ce9eec7 100644 --- src/hg/makeDb/doc/hg19.txt +++ src/hg/makeDb/doc/hg19.txt @@ -34005,16 +34005,89 @@ # commit all ############################################################################## 2020-01-21: manually update GENCODE V19 to include chrMT (markd) cd /hive/data/genomes/hg19/bed/gencodeV19/chrMT # convert chrM annotation in gff3 to chrMT zcat ../data/release_19/gencode.v19.annotation.gff3.gz | tawk 'NR==1{print;next} $1=="chrM"{$1="chrMT"; print}' >chrMT.gff3 # comprensive and basic are the same on chrM and there are no pseudogenes, so this is # easy cat ../tables/wgEncodeGencodeCompV19.gp chrMT.gp >wgEncodeGencodeCompV19.gp cat ../tables/wgEncodeGencodeBasicV19.gp chrMT.gp >wgEncodeGencodeBasicV19.gp hgLoadGenePred -genePredExt hg19 wgEncodeGencodeCompV19 wgEncodeGencodeCompV19.gp hgLoadGenePred -genePredExt hg19 wgEncodeGencodeBasicV19 wgEncodeGencodeBasicV19.gp + +############################################################################## +# doseSensitivity (WORKING - 2020-02-06) + + mkdir /hive/data/genomes/hg19/bed/doseSensitivity + cd /hive/data/genomes/hg19/bed/doseSensitivity + + ftp original files from ClinGen +-rw-rw-rw- 1 202784 Jan 28 16:21 ClinGen_gene_curation_list_GRCh37.tsv +-rw-rw-rw- 1 45142 Jan 28 16:21 ClinGen_haploinsufficiency_gene_GRCh37.bed +-rw-rw-rw- 1 48750 Jan 28 16:22 ClinGen_triplosensitivity_gene_GRCh37.bed + + # convert the original 'bed 5' data to bed 9+2 with perl script: + + ./toUcsc.pl ClinGen_haploinsufficiency_gene_GRCh37.bed \ + | sort -k1,1 -k2,2n > haploInsufficiency.bed + ./toUcsc.pl ClinGen_triplosensitivity_gene_GRCh37.bed \ + | sort -k1,1 -k2,2n > triploSensitivity.bed + + # convert bed to bigBed: + + bedToBigBed -tab -type=bed9+2 -as=doseSensitivity.as \ + haploInsufficiency.bed ../../chrom.sizes haploInsufficiency.bb + bedToBigBed -tab -type=bed9+2 -as=doseSensitivity.as \ + triploSensitivity.bed ../../chrom.sizes triploSensitivity.bb + + # measure data in bigBed files: + bigBedInfo haploInsufficiency.bb | sed -e 's/^/# /;' +# version: 4 +# fieldCount: 11 +# hasHeaderExtension: yes +# isCompressed: yes +# isSwapped: 0 +# extraIndexCount: 0 +# itemCount: 1,396 +# primaryDataSize: 42,693 +# primaryIndexSize: 6,388 +# zoomLevels: 6 +# chromCount: 24 +# basesCovered: 160,842,763 +# meanDepth (of bases covered): 1.001796 +# minDepth: 1.000000 +# maxDepth: 2.000000 +# std of depth: 0.042340 + + bigBedInfo triploSensitivity.bb | sed -e 's/^/# /;' +# version: 4 +# fieldCount: 11 +# hasHeaderExtension: yes +# isCompressed: yes +# isSwapped: 0 +# extraIndexCount: 0 +# itemCount: 1,396 +# primaryDataSize: 39,932 +# primaryIndexSize: 6,388 +# zoomLevels: 6 +# chromCount: 24 +# basesCovered: 160,842,763 +# meanDepth (of bases covered): 1.001796 +# minDepth: 1.000000 +# maxDepth: 2.000000 +# std of depth: 0.042340 + + + # symlinks to /gbdb/hg19: + + ln -s `pwd`/haploInsufficiency.bb \ + /gbdb/hg19/doseSensitivity/clinGenHaploInsufficiency.bb + ln -s `pwd`/triploSensitivity.bb \ + /data/hg19/doseSensitivity/clinGenTriploSensitivity.bb + + # trackDb composite perhaps in ClinVar CNVs composite + ##############################################################################