10/30/2026, 6:26:14 AM · PharmCAT 3.4.0 · Research record, not medical advice
- read 5 gene calls17.3s
- PharmCATstandardised 5 genes12.1s
- Rules4 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Demo Precision Oncology Labs, Chennai · SYNTHETIC · 17 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| CYP2D6 | “CYP2D6. Genotype *1/*4, consistent with a intermediate metabolizer (activity score 1).” | *1/*4 | Intermediate Metabolizer · activity 1.0 |
| DPYD | “DPYD. The patient carries DPYD c.1905+1G>A (*2A) heterozygous; c.1679T>G (*13) heterozygous. Predicted DPD phenotype: poor metabolizer (activity score 0).” | c.1679T>G (*13)/c.1905+1G>A (*2A) | Poor Metabolizer · activity 0.0 |
| NUDT15 | “NUDT15. Genotype *3/*3, consistent with a poor metabolizer.” | *3/*3 | Poor Metabolizer |
| TPMT | “TPMT. Genotype *1/*3A (*3B + *3C in cis), consistent with a intermediate metabolizer.” | *1/*3A | Intermediate Metabolizer |
| UGT1A1 | “UGT1A1. Genotype *28/*28 (TA7/TA7), consistent with a poor metabolizer.” | *28/*28 | Poor 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
Most common Indian decreased-function DPYD variant (~3.3%, PMID 40810747)
~25% in Indians; toxicity signal in South Indian cohorts (PMC11300675)
European tier-1 variant; rare in Indians (PMID 40810747)
Tier-1 no-function variant (PMID 39032821)
Tier-1 variant; near-absent in Indians (PMID 40810747)
Main NUDT15 risk allele, ~7-11% in Indians (PMID 29470173)
TA-repeat allele, common in South Asians
East Asian allele; reported at low frequency in India
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. A patient or lab reference printed on the report was removed before storage. Reader notes: Targeted genotyping: only listed variants 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
This is a read-only sample. In the pilot, 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.
Sign in with the pilot code