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annotate translocations with svtyper #113

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jazberna1 opened this issue Apr 7, 2020 · 2 comments
Open

annotate translocations with svtyper #113

jazberna1 opened this issue Apr 7, 2020 · 2 comments

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@jazberna1
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Hello,

I was wondering wether it is possible to annotate translocations with svtyper. In the header of the svtyper vcf output I see these types of SVs

##ALT=<ID=DEL,Description="Deletion">
##ALT=<ID=DUP,Description="Duplication">
##ALT=<ID=INV,Description="Inversion">
##ALT=<ID=DUP:TANDEM,Description="Tandem duplication">
##ALT=<ID=INS,Description="Insertion of novel sequence">
##ALT=<ID=CNV,Description="Copy number variable region">

Is there a way to include translocations?

Many thanks
Jorge

@Huanle
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Huanle commented Sep 15, 2023

Hi Svtyper developer(s),

I'd also love to know the possibility of designating translocation from SV callers.

Thanks in advance!

@pingxinxing
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Hello, have you solved the genotyping problem of translocation?

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