Opened 6 years ago

Last modified 6 years ago

#1018 closed enhancement

Updates to HaplotypeCaller step — at Version 3

Reported by: Nicklas Nordborg Owned by: Nicklas Nordborg
Priority: major Milestone: Reggie v4.15
Component: net.sf.basedb.reggie Keywords:
Cc:

Description (last modified by Nicklas Nordborg)

#1001 introduced the HaplotypeCaller step for genotyping. We should make some improvements to it:

  • A longer list with SNP:s to check (~200+) should give us better sensitivity for contamination (HET > 65%).
  • Instead of storing the HET count we should store the HET%
  • The auto-confirmation step should flag the RNA and stop the auto-confirmation if the HET% is high. This will allow an admin to use the "Flagged RNA" wizard to re-schedule a new library prep from the RNA for a second try.

Change History (3)

comment:1 by Nicklas Nordborg, 6 years ago

(In [4658]) References #1018: Updates to HaplotypeCaller step

Changed the QC_GenoTypeHET to QC_GenoTypeHET_PCT and updated all places that used the old value.

The manual and auto-confirmation wizards have been updated to flag the RNA if the HET percentage is over 65%.

comment:2 by Nicklas Nordborg, 6 years ago

Status: newassigned

comment:3 by Nicklas Nordborg, 6 years ago

Description: modified (diff)
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