mbhall88 / drprg

Drug Resistance Prediction with Reference Graphs
https://mbh.sh/drprg/
MIT License
19 stars 1 forks source link

Detect Partial gene deletion #26

Closed mbhall88 closed 1 year ago

mbhall88 commented 1 year ago

This adds a "patch" fix for #24 (until the underlying pandora problem can be resolved).

What we do is, for a variant with a "failed" (null) call, we check whether the variant spans the start codon. If it does, and the gene it is in is one where gene absence causes resistance, we call 'R' with a "start lost" tag.

After running the pipeline with this change, we get the following diff

Tool Drug ΔFN ΔFP
drprg Amikacin 0 0
drprg Capreomycin 0 0
drprg Delamanid 0 0
drprg Ethambutol 0 0
drprg Ethionamide -24 5
drprg Isoniazid 0 0
drprg Kanamycin 0 0
drprg Levofloxacin 0 0
drprg Linezolid 0 0
drprg Moxifloxacin 0 0
drprg Ofloxacin 0 0
drprg Pyrazinamide -9 1
drprg Rifampicin 0 0
drprg Streptomycin 0 0

The FPs are also called start lost by tb-profiler so I guess the phenotypes could be wrong? Anyway, this is a good result.