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If we have a mix of ploidies in a `.vcz` file, we create sample nodes for the maximum ploidy size for each individual, that just attach to the root (because they have no data). I.e. we make a huge pol…
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## Describe the issue
Hi, this is not a specific problem with VEP tool but more understanding issue.
I have a variant in PTEN with HGVSc: NM_000314.8:c.634+5G>C which annotated via VEP command line …
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### Describe the bug
I also have a lot of 404 errors. I think it's related to the lost avatar of my contact
CrowdSec banned me because of this
### Steps to reproduce
1. Go to Contacts App
2. Scro…
EVOTk updated
3 weeks ago
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It would be good to have the complete VCF files available for all the sample sets which would be beneficial. This allows that truth set does not rely on couple of interest sites, but allows for comple…
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Hi!
As a test run, I have successfully run SpliceAI-10k calc on the example files using both reference genomes 19 and 38, as well as on a subset of my variants. However, now that I am trying to ru…
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Could you please tell me how Alzheimer's disease GWAS data file ieu-b-2.vcf.gz results in maf and beta, or can I get these reproduced input data?
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vCard was generated from MacOS Contacts app. It should instead be generated from data in the JSON file.
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While running the wf-human-variation pipeline, ont-spectre produced an error implying that either the vcf file and reference files were empty or that the script did not load them correctly. I have at…
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### Operating System
Other Linux (please specify below)
### Other Linux
Red Hat Enterprise Linux 9.4
### Workflow Version
2.2.3
### Workflow Execution
Command line (Local)
### Other workflow e…
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I re-aligned the [HG002 30x PCR-free WGS BAM from Baid et al](https://console.cloud.google.com/storage/browser/brain-genomics-public/research/sequencing/grch38/bam/novaseq/wgs_pcr_free/30x) against hs…