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Likely incorrect ONT-based resolution

Open skoren opened this issue 1 year ago • 0 comments

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.

skoren avatar Sep 12 '23 15:09 skoren