10/30/2026, 1:54:56 PM · PharmCAT 3.4.0 · Research record, not medical advice
- read 2 gene calls7.6s
- PharmCATstandardised 2 genes6.4s
- Rules1 coverage gap
Calls each call quoted from the source, then standardised by PharmCAT
Demo Precision Oncology Labs, Chennai · SYNTHETIC · 11 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| NUDT15 | “NUDT15. Genotype *3/*1, consistent with a intermediate metabolizer.” | *3/*1 | Intermediate Metabolizer |
| TPMT | “TPMT. Genotype *1/*1, consistent with a normal metabolizer.” | *1/*1 | Normal Metabolizer |
Method as printed: Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded.
Coveragedeterministic rules · which India-relevant variants this panel named
Main NUDT15 risk allele, ~7-11% in Indians (PMID 29470173)
Most common TPMT variant in South Asians
A variant the panel did not name is left out of cohort statistics for that variant, rather than counted as absent. Reader notes: Only the listed variants are assayed; variants outside this panel cannot be excluded. Synthetic document generated for software benchmarking. Not a real patient or laboratory.
Exportde-identified · the same record in three formats
Curator review
A curator checks each call against the source document before the record counts in a cohort, and Muse Spark web search finds published Indian frequency data for each variant. Both are written to the audit log. Reviewing is the one action that needs a curator code, because it is a claim that a person checked the page.
Sign in as a curator