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Need to support complex rearrangements in SV (VCF) #1423

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yfarjoun opened this issue Oct 7, 2019 · 5 comments
Open

Need to support complex rearrangements in SV (VCF) #1423

yfarjoun opened this issue Oct 7, 2019 · 5 comments

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@yfarjoun
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yfarjoun commented Oct 7, 2019

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

Need to prioritize and fix.

@cwhelan
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cwhelan commented Oct 7, 2019

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:

#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 #18

@jrobinso
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@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)?

@vruano
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vruano commented Feb 2, 2023

@cwhelan is there still and interest in this?

@cwhelan
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cwhelan commented Feb 3, 2023

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

@vruano
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vruano commented Feb 7, 2023

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?

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4 participants