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Fix chromosome synonyms for breakends and custom annotation #1589

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nuno-agostinho
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@nuno-agostinho nuno-agostinho commented Jan 22, 2024

Fixes:

Requires Ensembl/ensembl-variation#1064

Motivation

When using chromosome synonyms (such as chr12 and NC_000012.12) with custom annotation or breakends, the comparison fails because it doesn't take synonyms into account.

Changelog

Testing

Test if VEP cache dump works with the changes.

Run VEP with:

  • a custom annotation containing chromosome synonyms (examples: GFF and VCF)
  • an input containing breakend variants, for instance (this example has the same two variants using different chromosome synonyms):
#CHROM  POS     ID      REF     ALT     QUAL    FILTER  INFO    FORMAT
2	29225144        bnd     G	G]2:42267610]   .	.	SVTYPE=BND
2	42267610        bnd     A	A]2:29225144]   .	.	SVTYPE=BND
chr2    29225144        bnd     G	G]chr2:42267610]        .	.       SVTYPE=BND
chr2    42267610        bnd     A	A]chr2:29225144]        .	.       SVTYPE=BND
NC_000002.12    29225144        bnd     G G]NC_000002.12:42267610]        . .       SVTYPE=BND
NC_000002.12    42267610        bnd     A A]NC_000002.12:29225144]        . .       SVTYPE=BND
CM000664.2    29225144        bnd     G G]CM000664.2:42267610]        . .       SVTYPE=BND
CM000664.2    42267610        bnd     A A]CM000664.2:29225144]        . .       SVTYPE=BND

@nuno-agostinho nuno-agostinho changed the title Fix chromosome comparison in custom annotation and breakends Fix chromosome comparison for breakends and custom annotation Jan 22, 2024
@nuno-agostinho nuno-agostinho marked this pull request as ready for review January 25, 2024 18:21
@nuno-agostinho nuno-agostinho changed the title Fix chromosome comparison for breakends and custom annotation Fix chromosome synonyms for breakends and custom annotation Jan 26, 2024
@nakib103 nakib103 self-requested a review January 29, 2024 09:34
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LGTM!~ thanks @nuno-agostinho!

@nakib103 nakib103 merged commit 6673679 into Ensembl:postreleasefix/112 Feb 6, 2024
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nakib103 commented Feb 6, 2024

merged to main and release/112

@nuno-agostinho nuno-agostinho deleted the fix/standard_chr_name branch February 6, 2024 16:36
@nuno-agostinho nuno-agostinho restored the fix/standard_chr_name branch March 6, 2024 10:08
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2 participants