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CAPICE annotation missing for <DEL> allelles #247

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dennishendriksen opened this issue Jun 21, 2022 · 0 comments
Open

CAPICE annotation missing for <DEL> allelles #247

dennishendriksen opened this issue Jun 21, 2022 · 0 comments
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@dennishendriksen
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Describe the bug
A clear and concise description of what the bug is.

To Reproduce

  1. Run test suite and inspect test_sv results
    output: sv.vcf.gz
    capice annotation output: sv_chunk0_capice_output.tsv.gz

Expected behavior
Output sv.vcf.gz contains CAPICE scores

Additional context
CAPICE VEP plugin uses the value in the CSQ-column, e.g.
17 14093499 . T <DEL> 0 . CSQ=deletion
and compares this with the CAPICE output:
17 14093499 T <DEL> PMP22 5376 EntrezGene NM_000304.4 Transcript 0.08634275 VUS
for a <DEL> allele and probably also other situations this does not match.

Instead the ALLELE_NUM containing an allele index should be used to match on ALT allele. This requires changes to CAPICE?

Other plugins might suffer from the same issue?

@dennishendriksen dennishendriksen added the bug Something isn't working label Jun 21, 2022
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