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Poor consensus due to low HiFi coverage at chr1_MATERNAL:836,790-893,824 #675

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nhansen opened this issue Mar 5, 2024 · 1 comment
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large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly

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@nhansen
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nhansen commented Mar 5, 2024

Have you confirmed that this issue hasn't already been reported?

  • I have confirmed in the UCSC browser hub that this is a new issue (required)

Issue location in assembly (use format chromosome:start-end, e.g., chr13_MATERNAL:3740148-9625296)

chr1_MATERNAL:836790-893824

Description of the issue

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@nhansen nhansen added v1.0 This is an issue/error in the hg002v1.0 assembly large_error This issue describes a poor quality or misassembled region in the assembly labels Mar 5, 2024
@jzook
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jzook commented Jul 22, 2024

Hi @nhansen - I was looking at the calls from Yu Kang's lab, and a few were in this region, which looks like in addition to the small corrections from their vcf, it probably still has a structural error in v1.1 based on the clipped reads. Related to the discussion on the HPRC call today, this is a region that I'd guess might be much better in the newer ONT assembly, unless you found otherwise?
Screenshot 2024-07-22 at 2 09 22 PM

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Labels
large_error This issue describes a poor quality or misassembled region in the assembly v1.0 This is an issue/error in the hg002v1.0 assembly
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