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TRA variants #34

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Akazhiel opened this issue Apr 7, 2022 · 5 comments
Closed

TRA variants #34

Akazhiel opened this issue Apr 7, 2022 · 5 comments
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enhancement New feature or request

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@Akazhiel
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Akazhiel commented Apr 7, 2022

Hello,

Is there any option to output the Translocations according to the VCF specifications? Meaning 2 entries per translocation and the alternate allele in this fashion ]chr18:53456042]N ?

Best regards,
Jonatan

@kcleal
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kcleal commented Apr 7, 2022

Hi @Akazhiel,
There is no option for this currently, although I think this should be simple to add. I will get this added

@kcleal kcleal added the enhancement New feature or request label Apr 7, 2022
@kcleal
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kcleal commented Apr 7, 2022

I have uploaded a script that converts target svtype(s) to BND format (see scripts folder). It can be used as follows:

python3 convert2bnd.py -t TRA reference.fa input.vcf > output.vcf

@kcleal
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kcleal commented Apr 18, 2022

Closing this for now

@kcleal kcleal closed this as completed Apr 18, 2022
@wenyuhaokikika
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wenyuhaokikika commented Aug 15, 2023

I have uploaded a script that converts target svtype(s) to BND format (see scripts folder). It can be used as follows:

python3 convert2bnd.py -t TRA reference.fa input.vcf > output.vcf

hello, where is the convert2bnd.py script please ? thank you ~~~

@kcleal
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kcleal commented Aug 15, 2023

My apologies, that folder seems to have gone missing. Ive added it back on the dysgu_dev branch. I will get it merged wihth the main repo in a few days:

https://github.com/kcleal/dysgu/tree/dysgu_dev

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