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Makefile_HPO
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34 lines (21 loc) · 1.38 KB
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get-phenotype-data:
#get gene_to_phenotype from http://compbio.charite.de/jenkins/job/hpo.annotations/lastBuild/
#wget http://compbio.charite.de/jenkins/job/hpo.annotations/lastBuild/artifact/util/annotation/genes_to_phenotype.txt
wget http://compbio.charite.de/jenkins/job/hpo.annotations/lastSuccessfulBuild/artifact/util/annotation/genes_to_phenotype.txt
#extract data to get right format
awk -F "\t" '{print $2"\t"$9}' genes_to_phenotype.txt | sort | uniq > gene_to_disease.build1273.txt
#get hpoa from
wget http://compbio.charite.de/jenkins/job/hpo.annotations.current/lastSuccessfulBuild/artifact/current/phenotype.hpoa
# extract and format
awk -F "\t" '$1!~/#/{print $4"\t"$1}' phenotype.hpoa |sort -u > disease_to_pheno.hpoa.txt
#merge to get final
cat gene_to_disease.build1273.txt > gene_to_disease.hpoa_build1273.txt
cat disease_to_pheno.hpoa.txt >> gene_to_disease.hpoa_build1273.txt
sort -u gene_to_disease.hpoa_build1273.txt > gene_to_disease.hpoa_build1273_uniq.txt
get-hp.obo-to-create-hpo-dag:
#download
wget https://github.com/obophenotype/human-phenotype-ontology/blob/master/hp.obo
# create hpo dag
awk -F ": | !" 'BEGIN{ID="";ISA=""}{if($1=="id"){ID=$2}else if($1=="is_a"){print ID"\t"$2} }' hp.obo > hpodag_2020-08-11.txt
get-omim-genelist:
awk -F "\t" '$9!="" && $1!~/#/{print $9}' ~/DATABASES/OMIM/2020/genemap2.txt |sort -u > genemap2_genelist.txt