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Added SVCLAIM field #517

Merged
merged 7 commits into from
Apr 19, 2021
Merged

Added SVCLAIM field #517

merged 7 commits into from
Apr 19, 2021

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d-cameron
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Would like to add examples of how a CNV and SV caller would report transposition events (both replicative and conservative), as well some more complicated ones such as CN-neutral chromothripsis.

Waiting on #491 for actual files.

Should we be putting more examples directly into the VCF document itself? I'm of the opinion that the specs themselves should be clean, but come with a relatively extensive set of example stand and edge case VCFs.

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@d-cameron That's great! I like this explicit specification of a claim type very much. I added a comment and a suggestion about expanding the description of this somewhat. Also, there's a merge conflict with master branch now.

How do you think this PR should relate to #465? Will you update that one to reflect this change in approach?

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tskir commented Jul 23, 2020

I also wanted to comment on this:

Would like to add examples of how a CNV and SV caller would report transposition events (both replicative and conservative), as well some more complicated ones such as CN-neutral chromothripsis.

Waiting on #491 for actual files.

I think that, once the comments are addressed, we can go ahead and merge this PR, and the example files can be added in a later PR. It helps to try to reduce the number of PRs opened simultaneoulsy.

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d-cameron commented Jul 30, 2020

  • Needs Type=A for consistency with Allow multiple SVs per record #468
  • Further expand on @tskir's suggestion, with DUP example giving multiple biological interpretations of a simple CN and SV DUP claim could be.
  • Abundance and adjacency are nice as they're clear and not overloaded. ADJ is obvious. Abundance not so much. AB, ABD, ABU? Would quantity/QTY` work or is that going too far towards a nice acronyn for the wrong word?
    • What about 1 letter abbreviations for 'J' for adjacency (aka break Junction), and abundance 'A' (or would C/copies work better)?

Co-authored-by: jmmut <jomutlo@gmail.com>
Co-authored-by: Kirill Tsukanov <tskir@users.noreply.github.com>
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Changed PDFs as of a465ed8: VCFv4.4 (diff).

Reformatted to one sentence per line
Added paragraph on the the multiple interpretations of duplication calls
Changed to Number=A. Made interpretation explicit of missing values explicit
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Changed PDFs as of 7e385c7: VCFv4.4 (diff).

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That's great! I really like where we're headed with this. Probably just one more iteration of edits will do it.

BTW, it's still showing a merge conflict. Not sure where it's coming from though, since the change only affects this one isolated section. Could you please verify manually that there are no conflicts?

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@tskir tskir added this to the VCF v4.4 milestone Feb 22, 2021
@tskir tskir self-requested a review February 24, 2021 13:22
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I already reviewed this in the past, so only minor changes remaining from my point of view.

And also could you please address three comments by @ctsa?

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Changed PDFs as of fb7cb12: VCFv4.4.draft (diff).

@tskir tskir self-requested a review April 19, 2021 13:36
@tskir tskir changed the base branch from master to CSIv2 April 19, 2021 13:37
@tskir tskir changed the base branch from CSIv2 to master April 19, 2021 13:37
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Changed PDFs as of 093e4ee: VCFv4.4.draft (diff).

@tskir tskir merged commit 9d0bd86 into samtools:master Apr 19, 2021
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Changed PDFs as of 21cf1fa: VCFv4.4.draft (diff).

@d-cameron d-cameron deleted the svclaim branch August 16, 2022 05:59
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