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Here is an assorted list of tools for which completions might be of interest to some users.
- [ ] annovar
- [ ] bamstats
- [ ] bcftools
- [ ] beagle
- [ ] BigWig
- [ ] bismark
- [ ] callisto
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Hello, I have broken down the human CADD scores file into individual chromosomes and included all the resulting 24 files in the config file to speed up the annotation process, but it doesn't seem to b…
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It is taking around 4-5 hours to run on one exome VCF of around 90K variants
(running on Xeon 32 core processor + 120Gb Ram workstation)
Is it normal run time you expect?
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I'm trying to use the `--acmg` flag but having the following issue
command is: `python3 tapes.py sort -i ./VCFs_teste/Sample.vep.vcf -o VCFs_teste/out_files/ --tab --acmg --by_gene -a hg19`
```
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Hi, just as the tittle said, I was wondering if Intervar would work on the gnomAD v2.1.1 by ANNOVAR cause I've seen changes in the headers of the new files?
Thanks!
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Hello,
I have run table_annovar.pl with vcf input, but during the process, accidently removed my raw vcf file, which the code could not generate multianno.vcf.
Is there a way to change txt to vc…
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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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Greetings,
Firstly, hats off to the amazing work.
I've been trying hard to download the database hg38_gnomad40_genome but every time it fails. Had tried almost 10-20 times using Google Chrome,…
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Dear professor,
Thanks a lot for making such a powerful sofeware, I have a variant in the following, the mutlyzer gives fs*34, but the annovar gives fs*33, this maybe caused by minor NM version , **b…
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