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Possible mis-assembly in mGorGor1 chr2_mat_hsa3:3,667,975-3,671,830 #3

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arangrhie opened this issue Jan 23, 2025 · 2 comments
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@arangrhie
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A possible mis-assembly in the pCHT, with HiFi and ONT support. Read alignment indicates a ~1.6k region should be removed.

Reported by Peter Kerpedijiev. View on Resgen

@arangrhie
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Confirmed this region was not reported in Flagger or NucFreq either.

@pkerpedjiev
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One more similar looking region at chr1_mat_hsa1:244,638,779-244,642,831:

https://resgen.io/paper-data/Yoo%202024%20-%20All/views/Hnu43h_jQp2fGdfbEPAJtg

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IGV:

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