odelaneau / shapeit5

Segmented HAPlotype Estimation and Imputation Tool
https://odelaneau.github.io/shapeit5/
MIT License
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about merging multiallelics #104

Open vicbp1 opened 3 weeks ago

vicbp1 commented 3 weeks ago

Hi, Thank you for developing this amazing tool. I understand that splitting multiallelic is needed before phasing. However, I observed a weird pattern after phasing: I have unphased variants with two alternative alleles.

Unphased chr21 5292305 G A 1/0 chr21 5292305 G T 0/1

Phased

chr21 5292305 . G A 1|0 chr21 5292305 . G T 1|0

I observed this for several multiallelics, and when I collapse into one variant, this genotype becomes unphased because of the incompatibility of phases: 1/2

How do you think I should avoid this problem?

Thanks

Vic