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[FEATURE] Output sequence alleles in VCF #114

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eldariont opened this issue Apr 29, 2021 · 0 comments
Open

[FEATURE] Output sequence alleles in VCF #114

eldariont opened this issue Apr 29, 2021 · 0 comments

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@eldariont
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eldariont commented Apr 29, 2021

At some point, we should output sequence alleles instead of symbolic alleles in the VCF.

Then, a deletion would no longer look like this:
chr1 57 . N <DEL> 60 PASS END=70;SVLEN=-13;SVTYPE=DEL

Instead, it would contain the complete sequence:
chr1 57 . ACAGATAGATACAG A 60 PASS END=70;SVLEN=-13;SVTYPE=DEL

For this feature, we need the genome file as input. For insertions, we would need to construct a consensus sequence or simply choose one sequence randomly.

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