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Report consequences for each breakend (e112) #1496

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merged 14 commits into from Sep 26, 2023

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@nuno-agostinho nuno-agostinho commented Sep 11, 2023

ENSVAR-5962: Report consequences for each breakend

Changelog

  • Parse multiple breakends like multiple alternative alleles
  • Move breakend parsing code to ensembl-variation: Report consequences for each breakend ensembl-variation#1040
  • Manta breakends (CHR2=8;END2=4654454) are now converted to VCF breakend format (such as [8:4654454[N) before being parsed in ensembl-variation

Fixes #1492

Testing

Run multiple types of variants, such as:

1       713044  DUP     C       <CN=2>  .       .       END=755966
1       7936271 .       N       N[12:58877476[,N[8:56445865[    .      .      .
1       7936271 .       N       <BND>    CHR2=8;END2= 4654454      .      .
2       227032111    BND00000186    A    [1:106864407[A   .   LowQual   IMPRECISE;SVTYPE=BND;SVMETHOD=EMBL.DELLYv0.7.8;CHR2=1;END=106864407;PE=2;MAPQ=60;CT=5to5;CIPOS=-231,231;CIEND=-231,231 GT:GL:GQ:FT:RCL:RC:RCR:CN:DR:DV:RR:RV    0/0:0,-19.006,-594:10000:PASS:8:5259:1:1169:101:2:0:0
20     17330   .         T      A       3    q10    NS=3;DP=11;AF=0.017               GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3   0/0:41:3

Check if everything looks fine in different output formats (default output, VCF, JSON, TSV).

@nuno-agostinho nuno-agostinho changed the base branch from postreleasefix/111 to main September 11, 2023 15:55
@nuno-agostinho nuno-agostinho changed the title Parse breakends in ensembl-variation Parse breakends in ensembl-variation (e112) Sep 11, 2023
@nuno-agostinho nuno-agostinho changed the title Parse breakends in ensembl-variation (e112) Report consequences for each breakend (e112) Sep 11, 2023
@nuno-agostinho nuno-agostinho marked this pull request as ready for review September 12, 2023 08:51
@likhitha-surapaneni likhitha-surapaneni self-assigned this Sep 13, 2023
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@likhitha-surapaneni likhitha-surapaneni left a comment

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Looks good to me. Thanks @nuno-agostinho

@likhitha-surapaneni likhitha-surapaneni merged commit d10423f into Ensembl:main Sep 26, 2023
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2 participants