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Variant DEL-grch37-5-150175225-150181898 exonic, but overlaps 3'utr only #434

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xiamaz opened this issue Apr 11, 2024 · 2 comments
Open

Variant DEL-grch37-5-150175225-150181898 exonic, but overlaps 3'utr only #434

xiamaz opened this issue Apr 11, 2024 · 2 comments
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@xiamaz
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xiamaz commented Apr 11, 2024

Describe the bug
The Variant DEL-grch37-5-150175225-150181898 overlaps 3'utr instead of coding sequence. This should be clearly reflected in the consequence annotation.

To Reproduce
TBD

Expected behavior
@xiamaz xiamaz added the bug Something isn't working label Apr 11, 2024
@xiamaz xiamaz moved this to In review in Release Planning Apr 11, 2024
@xiamaz
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xiamaz commented Apr 11, 2024

In the best case coding and 3' should be separated, since these are relevant for CNV classification.

@holtgrewe
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Seqvars mehari has separation of UTR exonic/intronic, needs to be ported to SVs.

@holtgrewe holtgrewe moved this from In review to Ready in Release Planning Aug 7, 2024
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