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Comments (8)

iqbal-lab avatar iqbal-lab commented on August 21, 2024 1

The model behind Gt conf is only meaningful for majors, so I'd bin it for minors

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mbhall88 avatar mbhall88 commented on August 21, 2024

This seems to have worked reasonably well

Tool Drug ΔFN ΔFP
drprg Amikacin 0 0
drprg Capreomycin 0 -1
drprg Delamanid 0 5
drprg Ethambutol -1 4
drprg Ethionamide -52 22
drprg Isoniazid 0 0
drprg Kanamycin 0 0
drprg Levofloxacin 0 0
drprg Linezolid -1 0
drprg Moxifloxacin 0 -1
drprg Ofloxacin 0 0
drprg Pyrazinamide -2 -1
drprg Rifampicin -5 0
drprg Streptomycin 0 0

Quite a few ETO FPs though, which I will take a look at before moving on

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mbhall88 avatar mbhall88 commented on August 21, 2024

So all of those "new" ETO FPs are strong calls for a mutation I recently added (fabG1 L203L) which mykrobe and tb-profiler also call.

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iqbal-lab avatar iqbal-lab commented on August 21, 2024

This sounds great!

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mbhall88 avatar mbhall88 commented on August 21, 2024

The delamanid FPs are caused by us calling minor alleles for ddn L49P. One of these is backed up by the other callers, one seems like a decent minor call, but not made by the other callers, and the rest are very low depth. This has made me realise I am not applying the same variant filters to the minor allele calls as I do the normal major allele calls. For instance, some of these delamanid minor calls only have depth 2x on the minor allele, so these should be filtered out

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iqbal-lab avatar iqbal-lab commented on August 21, 2024

So, stepping back, what are the rules we want to apply to call a minor? Above x% of the total reads at that variant (either allele) and above some min absolute number, right? I'd think no other filters?

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mbhall88 avatar mbhall88 commented on August 21, 2024

The extra EMB FPs are also the same reasons as the delamanid ones.

I think we can just use the same filters for minors as we do for majors.

  • Min. depth 3x
  • At least one read on each strand
  • Min. GT CONF 5 (which doesn't really apply to minor alleles I guess so we could bin this or just leave it in as it seems unlikely?)

We also have an FRS for majors, which we obviously don't want for minors

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mbhall88 avatar mbhall88 commented on August 21, 2024

Adding in the filtering of minors gives this diff to the results above

Tool Drug ΔFN ΔFP
drprg Amikacin 0 0
drprg Capreomycin 0 0
drprg Delamanid 0 -1
drprg Ethambutol 0 -2
drprg Ethionamide 0 0
drprg Isoniazid 0 0
drprg Kanamycin 0 0
drprg Levofloxacin 0 -1
drprg Linezolid 0 0
drprg Moxifloxacin 0 -1
drprg Ofloxacin 0 0
drprg Pyrazinamide 0 0
drprg Rifampicin 0 -1
drprg Streptomycin 1 0

So the diff for this overarching issue is

Tool Drug ΔFN ΔFP
drprg Amikacin 0 0
drprg Capreomycin 0 -1
drprg Delamanid 0 4
drprg Ethambutol -1 2
drprg Ethionamide -52 22
drprg Isoniazid 0 0
drprg Kanamycin 0 0
drprg Levofloxacin 0 -1
drprg Linezolid -1 0
drprg Moxifloxacin 0 -2
drprg Ofloxacin 0 0
drprg Pyrazinamide -2 -1
drprg Rifampicin -5 -1
drprg Streptomycin 1 0

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