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100s of chimeric mitochondrial genome contigs and same region duplicated in 2 contigs #68

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rb-commits opened this issue Jan 27, 2021 · 4 comments

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@rb-commits
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@rb-commits
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Oops, forget to add the dot plots for the duplicated region. Here it is.
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@rb-commits rb-commits changed the title 100s of chimeric mitochondrial genome contigs and same region duplicated 2 contigs 100s of chimeric mitochondrial genome contigs and same region duplicated in 2 contigs Jan 27, 2021
@lh3
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lh3 commented Jan 27, 2021

Hifiasm may produce different copies of mitochondria. That may be caused by heteroplasmy. However, in general, reference-based analysis may not be a good way to understand a new sample:

  • If you want to show the two mitochondria are misassembled, you need to confirm with reads.

  • Your sample is fairly diverged from the known reference. The "overlap" could just be segmental duplications. You need coverage plot and/or breaking reads to investigate.

  • BUSCO duplicates can be misleading. There are papers showing this.

Also a question: are you sure the input yeast samples come from nearly identical strains? Hifiasm is so sensitive that it will put tiny differences between strains into different contigs.

@rb-commits
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rb-commits commented Jan 27, 2021

Thanks for the quick response. This organism is dikaryotic (i.e. they have two separate nuclei), with a high level of heterozygosity between two haplotypes (0.84 SNP/Kb). I was wondering if those two contigs (in the left) are actually haplotypes (see the dot plots).
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There are not only 2 contigs of mitochondria but in 100s. By the way, the longer (95kb) mitochondrial contig is also from the same Hifiasm assembly, not the reference. I haven't checked the read depth for those mitochondrial contigs. I will check it and will let you know.

@HenrivdGeest
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HenrivdGeest commented Jan 27, 2021 via email

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