Hi,
I have trouble making Annovar’s gene annotation tool work well.
I am working on a virus, so had to build the reference by myself following Annovar’s website indications. I so build the refGene file, the refLink one, and through Annovar’s retrieve_seq_from_fasta.pl, the fasta file. I then run a vcf file, already passed through the convert2annovar.pl script in order to prepare it correctly for the input, and had as a result every variant listed as “intergenic”.
I am working on a Mac OSX 10.6.8, but if needed have access to a new Linux environment.
I tried with both the old version of Annovar and the recently released one (few days ago).
The script has been called like this:
/path/.../annotate_variation.pl --geneanno --outfile sample --dbtype refGene --buildver NC_XXXXX sample.annovar /path/.../NC_XXXXX/
File samples (I’ll just show one line. Notice that the variant I show is exonic):
refGene.txt file (Reference):
94 U11 gene NC_XXXXX - 18924 21578 18965 21578 1 18924 21578 . U11 gene unk unk 2
refMrna.fa file (Reference):
>U11 gene Comment: this sequence (leftmost exon at NC_XXXXX:18924) is generated by ANNOVAR on Fri Jun 28 12:06:03 2013, based on regions speficied in /Users/Marco/Desktop/NC_XXXXXdb/NC_XXXXX_refGene.txt and sequence files stored at /Users/Marco/Desktop/NC_XXXXXdb.
ATGGATCTGCAAAGACATCCGATTCCGTTTGCGTGGCTAGATCGAGACAAAGTTGAGCGTCTTACAGATTTTCTCAGCAATTTGGAAAGACTGGATAATGTAGATTTGCGAGAGCATCCCCATGTGACTAA....
sample.annovar file (input):
NC_XXXXX 20309 20309 A G hom . 5
sample.variant_function (OUTPUT):
intergenic NONE(dist=NONE),NONE(dist=NONE) NC_XXXXX 20309 20309 A G hom . 5
sample.exonic_variant_function (OUTPUT):
This file was empty.
Thanks in advance for the help. If more info are needed, please do not hesitate asking me.
I have trouble making Annovar’s gene annotation tool work well.
I am working on a virus, so had to build the reference by myself following Annovar’s website indications. I so build the refGene file, the refLink one, and through Annovar’s retrieve_seq_from_fasta.pl, the fasta file. I then run a vcf file, already passed through the convert2annovar.pl script in order to prepare it correctly for the input, and had as a result every variant listed as “intergenic”.
I am working on a Mac OSX 10.6.8, but if needed have access to a new Linux environment.
I tried with both the old version of Annovar and the recently released one (few days ago).
The script has been called like this:
/path/.../annotate_variation.pl --geneanno --outfile sample --dbtype refGene --buildver NC_XXXXX sample.annovar /path/.../NC_XXXXX/
File samples (I’ll just show one line. Notice that the variant I show is exonic):
refGene.txt file (Reference):
94 U11 gene NC_XXXXX - 18924 21578 18965 21578 1 18924 21578 . U11 gene unk unk 2
refMrna.fa file (Reference):
>U11 gene Comment: this sequence (leftmost exon at NC_XXXXX:18924) is generated by ANNOVAR on Fri Jun 28 12:06:03 2013, based on regions speficied in /Users/Marco/Desktop/NC_XXXXXdb/NC_XXXXX_refGene.txt and sequence files stored at /Users/Marco/Desktop/NC_XXXXXdb.
ATGGATCTGCAAAGACATCCGATTCCGTTTGCGTGGCTAGATCGAGACAAAGTTGAGCGTCTTACAGATTTTCTCAGCAATTTGGAAAGACTGGATAATGTAGATTTGCGAGAGCATCCCCATGTGACTAA....
sample.annovar file (input):
NC_XXXXX 20309 20309 A G hom . 5
sample.variant_function (OUTPUT):
intergenic NONE(dist=NONE),NONE(dist=NONE) NC_XXXXX 20309 20309 A G hom . 5
sample.exonic_variant_function (OUTPUT):
This file was empty.
Thanks in advance for the help. If more info are needed, please do not hesitate asking me.
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