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Pharmacogene Phase Unknown Token Tool

Preserve the supplied phase-known flag without inferring haplotypes from labels.

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Description

Preserve the supplied phase-known flag without inferring haplotypes from labels.

Pharmacogenomic records distinguish allele labels, copy counts, reference-sequence versions, coordinate systems, and evidence about chromosome phase. A balanced count or matching token can check a record without establishing the underlying genotype. Supplied activity values and interpretation rules remain separate from a current gene-specific clinical guideline.

Preserve the supplied phase-known flag without inferring haplotypes from labels.

When to use this tool

Use Pharmacogene Phase Unknown Token when you need this specific allele-token, reference-coordinate, copy-budget, or source-support check.

How to use the tool and how it works

  1. Enter phaseKnown, firstAllele, secondAllele. Use the units and conventions below.
  2. Run the tool. Correct any format, range, or cross-field input error before interpreting the output.
  3. Read phaseStatus, preservedAlleles. Use the output convention below.

Return phaseStatus=supplied-known when phaseKnown, otherwise unknown; preserve firstAllele and secondAllele in their original order.1

Input fieldMeaning and unitsAccepted input
phaseKnownPhase KnownRequired. Boolean.
firstAlleleFirst AlleleRequired. Text; maximum UTF-16 length 8192.
secondAlleleSecond AlleleRequired. Text; maximum UTF-16 length 8192.
Output fieldInterpretationReturned shape
phaseStatusPhase StatusRequired. Text; maximum UTF-16 length 8192.
preservedAllelesPreserved AllelesRequired. Array of text; maximum UTF-16 length 8192; maximum items 256.
json
{
  "input": {
    "phaseKnown": false,
    "firstAllele": "*1",
    "secondAllele": "*2"
  },
  "output": {
    "phaseStatus": "unknown",
    "preservedAlleles": [
      "*1",
      "*2"
    ]
  }
}

Limitations and assumptions

  • PhaseKnown is a supplied assertion rather than read-level evidence. Allele syntax, cis/trans relationships, copy number, and phenotype are not inferred or verified.
  • Inputs must satisfy both the field types and the cross-field conditions above. Invalid input causes an error; a successful false flag or documented placeholder is a different result.

Alternative or Complementary methods

Use a current gene-specific nomenclature and a validated interpretation process when allele identity, phase, function, or clinical decisions matter. Verify source versions and reference coordinates before combining records.

References

  1. Calculation and input contract: pharmacogenomics/pharmacogene-phase-unknown-token — tool.io

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