10/30/2026, 1:57:01 PM · PharmCAT 3.4.0 · Research record, not medical advice
- read 2 gene calls24.6s
- PharmCATstandardised 2 genes14.8s
- Rules3 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Synthetic Genomics Lab (Kochi) · 2 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| DPYD | “No tested variant detected | Normal metabolizer (activity score 2)” | Reference/Reference | Normal Metabolizer · activity 2.0 |
| UGT1A1 | “*28/*1 (TA7/TA6) | Intermediate metabolizer” | *28/*1 | Intermediate Metabolizer |
Method as printed: Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded. DPYD tested: rs3918290 (*2A), rs55886062 (*13), rs67376798 (c.2846A>T). UGT1A1 tested: TA repeat rs3064744 (*28).
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)
TA-repeat allele, common in South Asians
East Asian allele; reported at low frequency in India
A variant the panel did not name is left out of cohort statistics for that variant, rather than counted as absent. Reader notes: DPYD No tested variant detected: only the listed variants were tested; 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.
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