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Likely incorrect ONT-based resolution #190

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skoren opened this issue Sep 12, 2023 · 0 comments
Open

Likely incorrect ONT-based resolution #190

skoren opened this issue Sep 12, 2023 · 0 comments
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@skoren
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skoren commented Sep 12, 2023

In a primate sample (siamang) using verkko v1.4, we end up with a bubble structure
Screen Shot 2023-06-20 at 8 32 16 PM
where there are two alternate 100kb nodes in a single haplotype. Both nodes have normal coverage so they don't appear to be somatic variation. The region in the HiFi-only graph
Screen Shot 2023-06-20 at 8 31 52 PM
seems to indicate this is due to a duplication and there is no evidence of somatic variation. The assembly is in globus under gibbon_bad_resolution.

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