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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
The text was updated successfully, but these errors were encountered:
Since BreakpointHomology truncates flanking sequence to the length of the event, short tandem duplications sometimes incorrectly report homology.
hg19 example
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
The text was updated successfully, but these errors were encountered: