Opened 7 years ago

Last modified 7 years ago

#1018 closed enhancement

Updates to HaplotypeCaller step — at Initial Version

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

Description

#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 (but not stop) the RNA 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 (0)

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