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Bioinformatics(생정보학)

VEP, variant effect predictor cache download

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https://www.ensembl.org/info/docs/tools/vep/script/vep_cache.html

downloading cache

cd $HOME/.vep

curl -O ftp://ftp.ensembl.org/pub/release-90/variation/VEP/homo_sapiens_vep_90_GRCh38.tar.gz

tar xzf homo_sapiens_vep_90_GRCh38.tar.gz

mkdir homo_sapiens

mv 90_GRCh38/ homo_sapiens/


perl /mnt/tools/vep/ensembl-tools-release-75/scripts/variant_effect_predictor/variant_effect_predictor.pl \
-i IRCR_BT15_929_T03.indel_unfiltered.vcf \
-o tmp \
--cache \
--symbol \
--biotype \
--protein \
--canonical \
--sift b \
--polyphen b \
--no_stats \
--fasta /home/sjoh/hg38/ref_genome/chroms \
--dir_cache /root/.vep/homo_sapiens/GRCh38/ \
--cache_version 90


다른 버전의 cache를 사용할 때는, reference genome과 cache등을 맞춰줄 것

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