Opened 7 years ago
Closed 7 years ago
#1018 closed enhancement (fixed)
Updates to HaplotypeCaller step
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 (last modified by )
#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 (7)
comment:1 by , 7 years ago
comment:2 by , 7 years ago
Status: | new → assigned |
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comment:3 by , 7 years ago
Description: | modified (diff) |
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comment:4 by , 7 years ago
(In [4672]) References #1018: Updates to HaplotypeCaller step
Updated the SNP list. The new list has 213 entries.
comment:5 by , 7 years ago
(In [4675]) References #1018: Updates to HaplotypeCaller step
The auto-confirmation check now stop alignments if the HET percentage is over 65%.
comment:6 by , 7 years ago
comment:7 by , 7 years ago
Resolution: | → fixed |
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Status: | assigned → closed |
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(In [4658]) References #1018: Updates to HaplotypeCaller step
Changed the
QC_GenoTypeHET
toQC_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%.