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Support for Octopus VCF files #235

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DiDeoxy opened this issue Sep 11, 2020 · 5 comments
Open

Support for Octopus VCF files #235

DiDeoxy opened this issue Sep 11, 2020 · 5 comments

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@DiDeoxy
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DiDeoxy commented Sep 11, 2020

Octopus has a unique way of reporting alleles when the start at the same position on the reference but end at different positions. They indicate this with a * character. You can read more about it here: https://github.com/luntergroup/octopus/wiki/VCF-format

Would it be possible to support this?

@DiDeoxy
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DiDeoxy commented Sep 11, 2020

This is the correct way according to the VCF 4.3 spec.

Edit: Ignore this, I am wrong.

@mlin
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mlin commented Sep 11, 2020

The star allele is a "hot topic" right now, at least as these things go. In fact we do have a medium-term plan to use it more. Further info: #210 samtools/hts-specs#437 samtools/hts-specs#464

@DiDeoxy
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DiDeoxy commented Sep 14, 2020

Is there a workaround currently? If I wanted to re-format the vcf to comply with current GLnexus spec how would I do that?

@mlin
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mlin commented Sep 15, 2020

I'm not aware of any real attempts to adapt/validate GLnexus for merging Octopus [g]VCF, sorry. There are always a lot of details to get right; even some of the current configurations built into GLnexus are incomplete in various ways. I'd like it to happen for sure but it's a challenge to prioritize without a driver from the project's sponsors. I wonder if @dancooke has any thoughts or alternative plans wrt big cohort calling with Octopus. Maybe we'll get to work together on it one day.

BTW I realized the YAML indentation problem you hit was actually copied from our own configuration wiki page, which I fixed. Thanks for that.

@DiDeoxy
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DiDeoxy commented Sep 16, 2020

Hey, I managed to reformat the Octopus gvcfs using pysam using a script by @dancooke. I was then able to call using my current configuration file #234 .

What would be some details I need to investigate to make sure GLnexus is calling correctly?

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