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missing insertion #46

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Danisov opened this issue Feb 18, 2022 · 4 comments
Open

missing insertion #46

Danisov opened this issue Feb 18, 2022 · 4 comments

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@Danisov
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Danisov commented Feb 18, 2022

Hi @brentp
I have a question about missing insertion variants.
I used sample HG002 for variant calling with smoove using the command below. But it seems strange to me that I can't find the variants of Insertions? Do you have any idea why? does it have a notation instead of INS? Thank you in advance for your answer.
Note: I also used a WGS of my samples and I still haven't found the Insertions.

$ singularity run smoove.sif smoove call \
-x \
--name my_project \
--exclude ${BED} \
--fasta ${hg38} \
-p 1 \
--genotype \
 ${input} 
@brentp
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brentp commented Feb 18, 2022

what does this mean:

I can't find the variants of Insertions

?
Do you mean duphold isn't annotating your insertions?
Can you show a variant VCF line output from duphold that doesn't show what you expect?

@Danisov
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Danisov commented Feb 18, 2022

My apologies I wanted to write this issue in smoove not on duphold.
Do you want me to delete it and re-write it in the smoove issues?

@brentp
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brentp commented Feb 18, 2022

Here is fine, I just don't have enough information to help you.

@Danisov
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Danisov commented Feb 23, 2022

I just noticed that the insertions generated with smoove or lumpy are in BND format. Thanks @brentp

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