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Duplications normalization problem #68

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mihailefter opened this issue Nov 1, 2022 · 0 comments
Closed

Duplications normalization problem #68

mihailefter opened this issue Nov 1, 2022 · 0 comments

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@mihailefter
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It seems that normalizing duplications on the reverse strand is not performed correctly:

  • NC_000001.11(NM_032833.5):c.65_66insGGCTTCCGGTTCTGGCC is wrongly normalized to NC_000001.11(NM_032833.5):c.66_82dup. On the transcript reference it seems fine: NM_032833.5:c.65_66insGGCTTCCGGTTCTGGCC is normalized to NM_032833.5:c.49_65dup.
  • NC_000009.11:g.21974758_21974759insC should be normalized to NC_000009.11(NM_000077.5):c.68dup and not to NC_000009.11(NM_000077.5):c.69dup. Next, when NC_000009.11(NM_000077.5):c.69dup is used as in put it is wrongly normalized to NC_000009.11(NM_000077.4):c.70dup. It seems like there is a shifting problem.
  • NG_012337.1(NM_012459.2):c.5_6dup is wrongly normalized to NG_012337.1(NM_012459.2):c.7_8dup.
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