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Pharmacogenomic Call Uncertainty Marker Tool

Separate an explicitly supplied uncertainty wrapper from an opaque call token.

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Description

Separate an explicitly supplied uncertainty wrapper from an opaque call token.

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.

Separate an explicitly supplied uncertainty wrapper from an opaque call token.

When to use this tool

Use Pharmacogenomic Call Uncertainty Marker 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 token. 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 inner, uncertain. Inspect uncertain before interpreting the associated values.

For a nonempty token remove one outer parenthesis pair when it starts with ( and ends with ), otherwise remove one trailing ? when present. Return inner and uncertain=true on either recognized form, otherwise preserve the token and return false.1

Input fieldMeaning and unitsAccepted input
tokenComplete literal token in the grammar stated above.Required. Text; maximum UTF-16 length 8192.
Output fieldInterpretationReturned shape
innerText after removal of at most one recognized outer marker; can be empty.Required. Text; maximum UTF-16 length 8192.
uncertainUncertainRequired. Boolean.
json
{
  "input": {
    "token": "(*1/*4)"
  },
  "output": {
    "inner": "*1/*4",
    "uncertain": true
  }
}

Limitations and assumptions

  • Only a superficial marker is recognized. Empty inner strings and nested or combined marker text can remain, and no allele grammar, confidence probability, or laboratory uncertainty is validated.
  • 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/pharmacogenomic-call-uncertainty-marker — tool.io

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