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Remove redundant symbolic alt to so term hash #1075

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@nakib103 nakib103 commented Mar 21, 2024

Reported in Ensembl/VEP_plugins#710
Related Ensembl/ensembl-vep#1643

We have hash to convert from symbolic alternative allele from VCF to SO term in several places. It is best have it in one place to avoid errors.

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Hi @nakib103, thanks for your PR! I put some concerns regarding your changes in the following comments.

Please tell me if you want to discuss how to best approach my suggestions. Thanks!

modules/Bio/EnsEMBL/Variation/Utils/Config.pm Show resolved Hide resolved
modules/Bio/EnsEMBL/Variation/Utils/VEP.pm Outdated Show resolved Hide resolved
modules/Bio/EnsEMBL/Variation/Utils/VEP.pm Outdated Show resolved Hide resolved
modules/Bio/EnsEMBL/Variation/Utils/VEP.pm Outdated Show resolved Hide resolved
@nakib103 nakib103 changed the base branch from postreleasefix/112 to main May 1, 2024 09:46
@nakib103 nakib103 marked this pull request as draft May 1, 2024 09:46
@nakib103 nakib103 added the e113 label May 1, 2024
@nakib103 nakib103 added e114 and removed e113 labels Aug 20, 2024
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@nuno-agostinho,
The unit test on one before the last take accounts the change in ensembl-variation and passed. You can ignore the unit test failure in the last commit.

@nakib103 nakib103 marked this pull request as ready for review August 21, 2024 13:26
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Thanks for your PR, @nakib103! It's working as intended when testing StructuralVariantOverlap with same_type=1.

I am going to approve it, but I am concerned about moving some functions to ensembl-vep, as it makes ensembl-variation require VEP to properly test and may break other repos (web? REST?) that did not consider this requirement before.

Please check with the team if this if fine. If so, the PR is ready to be merged (after you check my small suggestions).

modules/Bio/EnsEMBL/Variation/Utils/VEP.pm Outdated Show resolved Hide resolved

$abbrev = "DUP:TANDEM" if $abbrev eq "TDUP";
$abbrev = "CNV:TR" if $abbrev eq "TREP";
$abbrev =~ s/_/:/ if $abbrev =~ /^(INS|DEL)_ME$/;
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This is correct as of now, but is not future-proof in case other INS/DEL subtypes are supported in the future. Maybe we could change the INS/DEL to contain the ME, such as INS_ME_ALU instead of INS_ALU to be more precise.

This is a bit nitpick-y so maybe just ignore this comment. 😛

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Noted! but I think that requires a bigger change and not within the scope/objective of this PR.

Co-authored-by: Nuno Agostinho <nunodanielagostinho@gmail.com>
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