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modified: README.md
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	modified:   cre.orphanet.sh
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naumenko-sa committed Nov 6, 2018
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3 changes: 1 addition & 2 deletions README.md
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Expand Up @@ -28,8 +28,7 @@ Excel variant report generator and scripts to process WES data (cram/bam/fastq -
5. (Optional) Install/update Orphanet.
```
cd ~/cre/data
wget http://www.orphadata.org/data/xml/en_product6.xml
cre.orphanet.sh
~/cre/cre.orphanet.sh
```
Orphanet provides descriptions for ~3600 genes:. By default CRE uses [orphanet.txt](../master/data/orphanet.txt)

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2 changes: 0 additions & 2 deletions cre.orphanet.sh
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Expand Up @@ -25,6 +25,4 @@ cat en_product6.xml.final | awk '{if($0 ~ "ENSG") {print $0"\t"dis}else{dis=$0}}
cat orphanet.tmp | sort -k1,1 > orphanet.sorted.txt
cat orphanet.sorted.txt | awk -F "\t" 'BEGIN{prev_gene="Ensembl_gene_id\tOrphanet";buf=""}{if(prev_gene != $1){print prev_gene"\t"buf;buf=$2;prev_gene=$1}else{buf=buf","$2;}}END{print prev_gene","buf'} > orphanet.txt

cp orphanet.txt ~/cre

rm en_product6.* orphanet.tmp orphanet.sorted.txt

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