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

Add support for VCF inputs for SV Matrix Generation #151

Open
mdbarnesUCSD opened this issue Aug 15, 2023 · 4 comments
Open

Add support for VCF inputs for SV Matrix Generation #151

mdbarnesUCSD opened this issue Aug 15, 2023 · 4 comments
Assignees
Labels
enhancement New feature or request

Comments

@mdbarnesUCSD
Copy link
Collaborator

  • Add support for VCF inputs for SV matrix generation
  • Update README
@mdbarnesUCSD mdbarnesUCSD added the enhancement New feature or request label Aug 15, 2023
@mdbarnesUCSD mdbarnesUCSD assigned MousumyCSE and SteeleCD and unassigned azhark2 Feb 2, 2024
@DarioS
Copy link

DarioS commented May 11, 2024

Particularly VCF version 4.4, which has enhancements for structural variant representation and deprecates the SVTYPE field.

@MousumyCSE
Copy link

Hi DarioS,

Thank you for letting us know!

If you could share any example files for the structural variant VCF 4.4 version with us, that would be amazing. That way, we could update our workflow as well.

Best,
Mousumy

@DarioS
Copy link

DarioS commented Jun 11, 2024

Yes, please see COLO829v003T.purple.sv.vcf example file and ignore ##fileformat=VCFv4.2 in the header section.

GRIDSS uses HTSJDK which writes VCF version 4.2. So, yes, that technically makes it non-compliant with version 4.4. That said, the content of the actual records are compliant with the version 4.4 specification.

Source: Daniel Cameron, GRIDSS creator.

@MousumyCSE
Copy link

Hi @DarioS,

Thank you for sharing! We will be working on this.

Best,
Mousumy

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

No branches or pull requests

5 participants