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Hi @jodyphelan
I noticed some inconsistency between the Resistance report and the Resistance variants report.
Specifically, for my attached result generated from v6.2.1, the pncA p.Val21Ala is listed as "Not assoc w R - Interim" in the Resistance variants report, but it is listed as Resistance in the resistance report
I have cross-checked the WHO catalogue and confirmed that this mutation is indeed "Not assoc w R - Interim" to Pyrazinamide.
It seems related to the fact that the default tbdb library comes from two sources (more on that here). It seem to be designated as not associated via the WHO catalogue but was previously reported in the literature as associated with resistance. Looking at the library there seem to be three of these cases:
Gene
Mutation
type
drug
original_mutation
confidence
source
comment
pncA
p.Val21Ala
drug_resistance
pyrazinamide
p.Val21Ala
Not assoc w R - Interim
tbdb
Mutation from literature
pncA
p.Thr160Ala
drug_resistance
pyrazinamide
p.Thr160Ala
Not assoc w R - Interim
tbdb
Mutation from literature
pncA
p.His137Arg
drug_resistance
pyrazinamide
p.His137Arg
Not assoc w R - Interim
tbdb
Mutation from literature
Some of these could potentially be conferring resistance, but perhaps the best solution here would be to remove these from the resistance list.
Hi @jodyphelan
I noticed some inconsistency between the Resistance report and the Resistance variants report.
Specifically, for my attached result generated from v6.2.1, the pncA p.Val21Ala is listed as "Not assoc w R - Interim" in the Resistance variants report, but it is listed as Resistance in the resistance report
I have cross-checked the WHO catalogue and confirmed that this mutation is indeed "Not assoc w R - Interim" to Pyrazinamide.
Sample3576.json
Sample3576.results.zip
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