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Prevent annotating start_lost if start codon is retained in case of indels #1062

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merged 3 commits into from
May 22, 2024

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@nakib103 nakib103 commented Jan 12, 2024

ENSVAR-5777

Test

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Update on unit test

  1. atg -> atGCAg - we still retain the start codon, hence we should return start_retained beside inframe_insertion
  2. CATG -> CAT - there is another G after the deleted G (see here) , so we should have start_retained beside 5_prime_UTR_variant

@nakib103 nakib103 marked this pull request as draft January 12, 2024 17:01
@nuno-agostinho nuno-agostinho self-assigned this Feb 12, 2024
@nakib103 nakib103 marked this pull request as ready for review February 19, 2024 13:35
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Hi @nakib103, I tested this PR with ClinVar VCF file, but it returns this error:

Can't call method "seq" on an undefined value at /hps/software/users/ensembl/repositories/nuno/ensembl-variation/modules/Bio/EnsEMBL/Variation/Utils/VariationEffect.pm line 1050.

You can reproduce the issue with the command:

perl vep --id "5 14664825 1462152 CA C" --database --db_version 111

It seems the issue may be related with $utr being undefined.

modules/Bio/EnsEMBL/Variation/Utils/VariationEffect.pm Outdated Show resolved Hide resolved
@nakib103 nakib103 changed the base branch from postreleasefix/112 to main May 1, 2024 09:48
@nakib103 nakib103 marked this pull request as draft May 1, 2024 09:48
@nakib103 nakib103 added the e113 label May 1, 2024
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Hi @nakib103, I tested this PR with ClinVar VCF file, but it returns this error:

Can't call method "seq" on an undefined value at /hps/software/users/ensembl/repositories/nuno/ensembl-variation/modules/Bio/EnsEMBL/Variation/Utils/VariationEffect.pm line 1050.

You can reproduce the issue with the command:

perl vep --id "5 14664825 1462152 CA C" --database --db_version 111

It seems the issue may be related with $utr being undefined.

Hi @nuno-agostinho , thanks , fixed it!

@nakib103 nakib103 changed the base branch from main to postreleasefix/113 May 22, 2024 10:50
@nakib103 nakib103 marked this pull request as ready for review May 22, 2024 10:50
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Thanks @nakib103, looks good to me!

I will wait for the unit tests to finish before merging.

@nuno-agostinho nuno-agostinho merged commit e0bb1bf into Ensembl:postreleasefix/113 May 22, 2024
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Merged to main and release/113.

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