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Fix breakend consequences when using chr prefix #1036

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nuno-agostinho
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Fixes Ensembl/ensembl-vep#1479

Simply ignore the chr prefix of breakend mates when checking if a mate is contained within an Ensembl feature.

In a future PR, we will also look into chromosome synonyms (ENSVAR-5967), such as CM000664.2 and NC_000002.12.

Testing

Run VEP with the following pairs of variants, the results should be the same whether they regions have a chr prefix or not:

#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

@nuno-agostinho nuno-agostinho changed the title Fix breakpoint consequences when using chr prefix Fix breakend consequences when using chr prefix Sep 5, 2023
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@nakib103 nakib103 left a comment

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LOTM!~

@nakib103 nakib103 merged commit f4d91c8 into Ensembl:postreleasefix/111 Sep 7, 2023
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@nuno-agostinho nuno-agostinho deleted the fix/bnd-chr-prefix branch September 7, 2023 11:29
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