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Problem with DUP naming. SVLEN is not present in INV calls. #60

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mldmort opened this issue Dec 21, 2021 · 0 comments
Open

Problem with DUP naming. SVLEN is not present in INV calls. #60

mldmort opened this issue Dec 21, 2021 · 0 comments

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@mldmort
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mldmort commented Dec 21, 2021

Hi,

I encountered problems with SV naming of DUPs (DUP:INT and DUP:TANDEM) when I wanted to merge output VCF files from SVIM with a merging software (Jasmine).
Having a semi column in the SV name is very dangerous especially when some other software puts them in a format field. I faced bcftools errors saying the number of format fields are not correct due to the presence of the semi column. I suggest the authors change them to DUP_TANDEM and DUP_INT instead.

Another problem I faced is that the INV calls don't have SVLEN in their info fields. This makes them inconsistent with other SV types. I suggest you include that in the VCF files for INV calls as well.

Thanks a lot,
Milad

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