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Add intronic APC events to Yaeger et al, 2018 #1773

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merged 2 commits into from
Feb 23, 2023

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@inodb inodb commented Feb 22, 2023

Fix genome-nexus/genome-nexus#666. The intronic/splice APC have been reannotated using genome nexus' reVUE integration updating these to p.G279Ffs*10 Frame_Shift_Ins. See also figure from paper:

Screen Shot 2023-02-22 at 4 06 36 PM

Cancer studies updated in this pull request:

APC mutations go from:

Screen Shot 2023-02-22 at 3 59 34 PM

to:

Screen Shot 2023-02-22 at 4 00 13 PM

Example mutations diagram:

Screen Shot 2023-02-22 at 4 01 21 PM

Review

  • We noticed that this section of the manuscript mentions:

    Notably, we identified 35 MSS cases harboring a recurrent intronic single-nucleotide variant eight nucleotides upstream of APC exon 9 (chr5:112151184A>G; NM_000038)

    We found an additional sample P-0004865-T01-IM5 with that event (i.e. 36 MSS cases instead of 35). To be consistent with the paper we removed that event

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These have been reannotated using genome nexus' reVUE integration
updating these to p.G279Ffs*10 Frame_Shift_Ins
@inodb inodb requested a review from rmadupuri February 22, 2023 21:08
This is not mentioned in the paper, so for consistency we remove it
@rmadupuri rmadupuri merged commit b0e01ed into master Feb 23, 2023
@rmadupuri rmadupuri deleted the add-nonsignedout-apc-events branch February 23, 2023 14:11
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Reannotate crc_msk_2017 with reVUE
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