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IHOMLEN sometimes incorrect for small duplications #174

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d-cameron opened this issue Sep 17, 2018 · 0 comments
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IHOMLEN sometimes incorrect for small duplications #174

d-cameron opened this issue Sep 17, 2018 · 0 comments
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@d-cameron
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Since BreakpointHomology truncates flanking sequence to the length of the event, short tandem duplications sometimes incorrectly report homology.
hg19 example

4	63534532	gridss25_35352o	T	]4:63534640]T
4	63534640	gridss25_35352h	A	A[4:63534532[	

Reports an inexact homology of 109bp since the remote flanking sequence aligns to the duplication instead of the anchor.

Defensive programming: don't report IHOMLEN if less than X% of anchor sequence isn't mapped in the alignment

Fix:

  • extend the anchoring sequence to always be longer than the alignment

  • Retest small DEL, DUP, both INV orientations, and INS events with and without homology to ensure correct behaviour for all simple events

  • Test DEL and DUP with untemplated inserted sequence

@d-cameron d-cameron added the bug label Sep 17, 2018
d-cameron added a commit that referenced this issue Sep 17, 2018
…g sequence is detected

No longer reporting negative inexact homology when untemplated inserted sequence is present
d-cameron added a commit to hartwigmedical/scripts that referenced this issue Sep 18, 2018
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