htsjdk icon indicating copy to clipboard operation
htsjdk copied to clipboard

Need to support complex rearrangements in SV (VCF)

Open yfarjoun opened this issue 5 years ago • 5 comments

The VCF parser is currently unable to parse VCFs with complex rearragnements and this is showing up as Picard issues: https://github.com/broadinstitute/picard/issues/1406

Need to prioritize and fix.

yfarjoun avatar Oct 07 '19 13:10 yfarjoun

Just wanted to alert whoever looks at this that @vruano started to work on this and ended up wanting to refactor the Allele class. A lot of that work is in this large PR:

https://github.com/samtools/htsjdk/pull/1370

There may be a shorter-term fix to prevent errors, but this was his attempt to restructure the allele class so that it could support https://github.com/samtools/htsjdk/issues/18

cwhelan avatar Oct 07 '19 13:10 cwhelan

@yfarjoun I also need to support this in IGV, I have no idea what it will do with a complex SV but probably nothing useful. I see this is still open here, when fixed could you provide me with your test cases (VCFs)?

jrobinso avatar Apr 17 '20 23:04 jrobinso

@cwhelan is there still and interest in this?

vruano avatar Feb 02 '23 06:02 vruano

This is definitely something we still need to implement at some point.

cwhelan avatar Feb 03 '23 17:02 cwhelan

In this case I can undust the old large PR code with respect SV allele support and put you as a reviewer, @cwhelan. Do you have some use cases in gatk or gatk-sv that have their own custom Java solutions?

vruano avatar Feb 07 '23 16:02 vruano