How can I get allele count, hom_alt count, from Truvari collapsed output? #152
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Hello, I'm looking to create a database of SVs which I can use for annotation of rare disease samples. What I have so far:
This gives me:
And Truvari non-collapsed:
So the question now, is how can I arrive at something that looks like:
Thanks for any input! -Phil |
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Replies: 1 comment
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Hello, I generally use And just to make sure it's clear because I feel like the names may be confusing: What you're calling 'collapsed' are variants which had their genotypes consolidated into a variant inside the output. So, output isn't so much 'non-collapsed' as the 'kept' representation. But I think you know that. Have a great day, |
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Hello,
I generally use
bcftools +fill-tags
to populate AF information (link). You may also be interested intruvari anno gtcnt
and possiblytruvari anno grpaf
(link).And just to make sure it's clear because I feel like the names may be confusing: What you're calling 'collapsed' are variants which had their genotypes consolidated into a variant inside the output. So, output isn't so much 'non-collapsed' as the 'kept' representation. But I think you know that.
Have a great day,
~/Adam English