Flagged alignments wizard
|Reported by:||Nicklas Nordborg||Owned by:||Nicklas Nordborg|
Description (last modified by )
This is the second step in the genotype QC. Alignments that were flagged by the first wizard should be further examined and it should be possible schedule re-runs from RNA or re-extractions from the specimen.
It was not so easy to write a specification for this wizard. Instead, I will write something about the ongoing development as soon somethings seems reasonably stable to be useful.
A description of the development so far
The wizard will start out in a context-less mode which simply means that it will load all alignments from the Flagged alignments list and compare them to each other. In this mode it will make two simple checks:
- Check the
QC_GENOTYPE_VERIFIEDannotation. This is very useful since it allows us to know alignments that we believe to be correct.
- Other alignments that has a HIGH or LOW mismatch against a verified alignment is marked as a
Verified mismatch. This is an alignment that we believe to be incorrect.
This will be listed together with information about the QiaCube and LibPlate information. The user may click on a QiaCube or LibPlate. This switches the wizard to a context-sensitive mode.
In the context-sensitive mode the wizard will load all alignments (including non-flagged alaignemts) that are related to the context. For example, for a given QiaCube run, the wizard will load all RNA items and follow them up to the Patient level and loading all alignments related to those patients.
In addition to the two simple checks above, the wizard will now also make a third check that will try to locate a possible mixup in the current context. Here is an outline of the procedure:
- Look for a pair of alignments A1 and A2 where
- A1 is in the current context
- A2 is in another context or a VERIFIED alignment
- there is a LOW mismatch warning between A1 and A2. This indicates that A1 and A2 is from the same patient.
- Get the patient from A2 and try to find another alignment A3 in the current context that has the same patient. A3 must not be a "Verified mismatch".
- If we find it, this could mean that A1 is actually A3.
- This may not be enough information to identify the problem. Typically, a VERIFIED alignment is needed to be sure.