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 |
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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.
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