KarchinLab / open-cravat

A modular annotation tool for genomic variants
MIT License
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failed to convert VCF from gridss output #138

Open lmanchon opened 1 year ago

lmanchon commented 1 year ago

--Hi,

i think Open-Cravat is not able to properly convert raw vcf ouput from Gridss caller to a standard VCF and then the analysis failed. Is there a patch for this ?

thank you --

kmoad commented 1 year ago

This is likely a vcf parsing issue. Can you share a sample of the vcf that failed? Just the headers and a few lines would be fine. If you'd prefer not to share here, you can email it to support@opencravat.org.

lmanchon commented 1 year ago

yes, see attachment.

SAD190005_S6_gridss.vcf.txt

kmoad commented 1 year ago

Thanks for sending the vcf. We don't currently annotate structural variants. But are recognizing that this is an important issue, we will be adding structural variant annotations this year.

We would really appreciate your input as to what kinds of annotations would be useful to you.

lmanchon commented 1 year ago

ACMG annotations are important, tools like Tapes (https://github.com/a-xavier/tapes) or AnnotSV (https://lbgi.fr/AnnotSV/) are able to provide this type of annotation. It would be valuable if Cravat was also able to render this kind of annotation.

kmoad commented 1 year ago

Thanks! I'm leaving this open as we work on structural.

Jeltje commented 1 year ago

@lmanchon I'm working on SV integration and I'm having some trouble generating gridss files. Would you be able to share one you generated? You can reach me at jeltje.van.baren@gmail.com