Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

vt normalize fails to report on reference inconsistency #124

Open
ankjel opened this issue Dec 6, 2024 · 1 comment
Open

vt normalize fails to report on reference inconsistency #124

ankjel opened this issue Dec 6, 2024 · 1 comment

Comments

@ankjel
Copy link

ankjel commented Dec 6, 2024

I have been running vt normalize on vcfs containing at least one variant where REF does not correspond to the reference, without encountering any errors.
Based on the wiki and options, I would expect an error and I am now wondering if I misunderstood the documentation or if there is an issue with the version I am running.

Command:
vt normalize -r human_g1k_v37.fasta myfile.vcf -o myfile.normalized.vcf

Running in container heuermh/vt:latest

 vt --version
vt v0.5772-60f436c3
The MIT license
Copyright (c) 2013 Adrian Tan <atks@umich.edu>

Output:

options:     input VCF file                                  myfile.vcf
         [o] output VCF file                                 myfile.normalized.vcf
         [w] sorting window size                             10000
         [m] no fail on masked reference inconsistency       false
         [n] no fail on reference inconsistency              false
         [q] quiet                                           false
         [d] debug                                           false
         [r] reference FASTA file                            human_g1k_v37.fasta


stats: biallelic
          no. left trimmed                      : 0
          no. right trimmed                     : 0
          no. left and right trimmed            : 0
          no. right trimmed and left aligned    : 0
          no. left aligned                      : 0

       total no. biallelic normalized           : 0

       multiallelic
          no. left trimmed                      : 0
          no. right trimmed                     : 0
          no. left and right trimmed            : 0
          no. right trimmed and left aligned    : 0
          no. left aligned                      : 0

       total no. multiallelic normalized        : 0

       total no. variants normalized            : 0
       total no. variants observed              : 2
       total no. reference observed             : 0

The 0 count of "total no. reference observed" made me question if reference inconsistency is checked only for variants that are normalized, but I couldn't find this described anywhere.

Thanks for any input.

@ankjel
Copy link
Author

ankjel commented Jan 13, 2025

It looks to me like vt normalized only checks reference alleles on variants that are being nomalized. I don't think this behaviour is described clearly in the documentstion (https://genome.sph.umich.edu/wiki/Vt#Normalization).

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant