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Pharmacogene Build Namespace

Qualify an explicit gene label by assembly and annotation namespace without mapping coordinates.

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Description

Qualify an explicit gene label by assembly and annotation namespace.

Pharmacogenomic records require a gene, reference build, version, assay method and stated allele/phasing convention. A star-allele string is not meaningful independently of its gene and authoritative definition. Syntax, separator and copy-count labels do not establish a genotype, phenotype, assay coverage or appropriate prescribing recommendation.

Qualify an explicit gene label by assembly and annotation namespace.

When to use this tool

Use Pharmacogene Build Namespace when you already have geneLabel, assemblyLabel, annotationVersion and need to qualify an explicit gene label by assembly and annotation namespace.

How to use the tool and how it works

  1. Enter geneLabel, assemblyLabel, annotationVersion. 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 token. Use the output convention below.

Enter geneLabel, assemblyLabel, annotationVersion using the field constraints below. Encode these values, in exactly that order, as a JSON array and return the serialized array as text in token. String values are preserved without trimming or external terminology lookup.1

Input fieldMeaning and unitsAccepted input
geneLabelGene LabelRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
assemblyLabelAssembly LabelRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
annotationVersionAnnotation VersionRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
Output fieldInterpretationReturned shape
tokenTokenRequired. Text; maximum UTF-16 length 8192.
json
{
  "input": {
    "geneLabel": "GENE-A",
    "assemblyLabel": "Assembly X",
    "annotationVersion": "v2"
  },
  "output": {
    "token": "[\"GENE-A\",\"Assembly X\",\"v2\"]"
  }
}

Limitations and assumptions

  • The result records supplied values without mapping coordinates. Sources and asserted relationships are not independently authenticated.
  • 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

Resolve allele definitions against the correct gene, reference build, assay scope and authoritative version. Treat syntax parsing and no-call/phasing labels as record checks; applying a clinical guideline requires the complete verified genetic and clinical context.

References

  1. Calculation and input contract: pharmacogenomics/pharmacogene-build-namespace — tool.io

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