Created
February 9, 2011 23:53
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install annovar and use it to annotate a vcf with hg19
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wget http://www.openbioinformatics.org/annovar/download/annovar.latest.tar.gz.mirror | |
tar xzvf annovar.tar.gz | |
cd annovar | |
# download databases (goes to UCSC) | |
./annotate_variation.pl -buildver hg19 -downdb 1000g2010nov humandb | |
./annotate_variation.pl -buildver hg19 -downdb avsift humandb | |
./annotate_variation.pl -buildver hg19 -downdb refGene humandb | |
./annotate_variation.pl -buildver hg19 -downdb mce46way humandb/ | |
./annotate_variation.pl -buildver hg19 -downdb snp131 humandb/ | |
./annotate_variation.pl -buildver hg19 -downdb segdup humandb/ | |
# more extensive gene db. see: | |
# http://www.openbioinformatics.org/annovar/annovar_gene.html | |
# (Switching to UCSC Known Gene annotation or Ensembl Gene annotation) | |
./annotate_variation.pl --buildver hg19 --downdb knowngene humandb | |
./annotate_variation.pl --buildver hg19 --downdb ensgene humandb | |
# known variation | |
./annotate_variation.pl --buildver hg19 --downdb dgv humandb/ | |
./annotate_variation.pl --buildver hg19 --downdb gwascatalog humandb/ | |
# not available yet: | |
# perl ./annotate_variation.pl -buildver hg19 -downdb tfbs humandb/ | |
./convert2annovar.pl -format vcf4 $IN > ${IN}.annovar | |
# see: http://www.openbioinformatics.org/annovar/annovar_faq.html#1000g_hg19 | |
./annotate_variation.pl --filter --buildver hg19 --dbtype 1000g2010nov_all ${IN}.annovar humandb/ | |
# iterative filtering the suffix hg19_ALL.sites... gets added. _filtered are the ones | |
# that were not in the 1000genomes snps. | |
./annotate_variation.pl --filter --buildver hg19 --dbtype snp131 ${IN}.annovar.hg19_ALL.sites.2010_11_filtered humandb/ | |
# now ${IN}.annovar.hg19_ALL.sites.2010_11_filtered.hg19_snp131_filtered | |
# contains the stuff not in dbsnp131 or in 1000 genomes. | |
# http://www.openbioinformatics.org/annovar/annovar_faq.html#vcf | |
# maybe can use this: http://biostar.stackexchange.com/questions/3432/1000g-and-dbsnp-build-132-in-ucsc-genome-browser/3436#3436 | |
# for dbsnp 132 | |
# TODO: http://www.openbioinformatics.org/annovar/annovar_faq.html#iupac | |
# IUPAC calls are excluded as bad input. convert these first | |
FILTERED=${IN}.annovar.hg19_ALL.sites.2010_11_filtered.hg19_snp131_filtered | |
# annotate remaining snps by proximity to gene. | |
./annotate_variation.pl --buildver hg19 --geneanno $FILTERED humandb/ | |
# now ${FILTERED}.exonic_variant_function lists snps in genes | |
# and ${FILTERED}.variant_function annotates up/down stream genes and distances and if in UTR/intron | |
# generate a big spreadsheet of the annotations. | |
./auto_annovar.pl --buildver hg19 --ver1000g 1000g2010nov --verdbsnp 131 --genetype knowngene --outfile lung_auto LTRC_274462_lung_unique.annovar humandb |
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Hi,can you send me annovar.tar.gz.
Thanks