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Hi, I have used ANNOVAR to annotated the SNPs using gene-based annotation and hg38. Then I want to know whether the SNPs in my data are enriched in a specific region (for example exonic or intergenic…
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when i use convert2annovar.pl to transform a vcf file, which includes many samples,so i used '-allsample'.Then,there is a bug:
the code i use:
#perl ~/biosoftware/annovar/convert2annovar.pl -format …
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Hi,
I am trying to do fusion benchmark using different tools.
I came across error when demo data was applied.
`python /home/jjiang/work/fusion/SplitFusion/exec/SplitFusion.py --refGenome /bi…
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Hi, thanks for the great program!
It would be great if the database_names for annovar were read from the config.ini file instead of hard-coded into Intervar.py. This would allow use of the updated da…
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depending on your command line, if you use this 1000g file, then you need
to install ANNOVAR and then download this file from ANNOVAR.
On Fri, Dec 24, 2021 at 1:23 AM Nanditha-shetty ***@***.***>
…
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Hi there,
1. Does exomiser support only certain vcf file format and above?
2. Exomiser v14.0.0 is not recognizing unstructured key meta-information line with key as “##META” as a valid header line…
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hi, it's very nice to use annovar software.
when i annotated the mutation vcf file, i felt confused for some annotation infomation.
in annovar :
NM_004448.4 is the transcript of ERBB2 gene.
N…
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Hi there,
I found an issue which is similar to #54.
Specificlly, A insertion variant has different HGVS description(**position**) between Annovar and VEP.
Version: 2016-02-01
Comand:
```
p…
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thanks a lot, professor wang.
here is variant annotated by annovar, but no record in clinvar **online** . can you have a look?
chr5 112162803 112162803 - G 799389 not_specified MedGen:CN169374 crit…
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Hi, I used annovar to annoate my WES data sucessfully, but the output did not generate ENSG id, instead, it generated ENST id. How can I got ENSG id. Hope your response! Appreciate!