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Add support for VCF inputs for SV Matrix Generation

Open mdbarnesUCSD opened this issue 1 year ago • 5 comments

  • Add support for VCF inputs for SV matrix generation
  • Update README

mdbarnesUCSD avatar Aug 15 '23 21:08 mdbarnesUCSD

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

DarioS avatar May 11 '24 03:05 DarioS

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

MousumyCSE avatar Jun 03 '24 18:06 MousumyCSE

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.

DarioS avatar Jun 11 '24 07:06 DarioS

Hi @DarioS,

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

Best, Mousumy

MousumyCSE avatar Jun 11 '24 17:06 MousumyCSE

Is it ready to run yet?

DarioS avatar Jun 28 '24 21:06 DarioS

We moved forward with support for inputs for SV VCFs versions 4.1, 4.2, and 4.3. In a future release we hope to add support for VCF versions 4.4 and 4.5.

mdbarnesUCSD avatar Aug 07 '24 17:08 mdbarnesUCSD