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Variant Phasing Status Label

Label explicitly recorded variant phasing status without inferring phase or clinical implications.

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Description

Label a recorded pharmacogenomic phasing status.

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.

Label a recorded pharmacogenomic phasing status.

When to use this tool

Use Variant Phasing Status Label when you already have recordId, phaseStatus and need to label a recorded pharmacogenomic phasing status.

How to use the tool and how it works

  1. Enter recordId, phaseStatus. 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 label. Use the output convention below.

Require recordId nonempty and phaseStatus phased, unphased, unknown or not-applicable; format ID [status].1

Input fieldMeaning and unitsAccepted input
recordIdRecord IdRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
phaseStatusPhase StatusRequired. Text; one of "phased", "unphased", "unknown", "not-applicable"; maximum UTF-16 length 8192.
Output fieldInterpretationReturned shape
labelLabelRequired. Text; maximum UTF-16 length 8192.
json
{
  "input": {
    "recordId": "V17",
    "phaseStatus": "phased"
  },
  "output": {
    "label": "V17 [phased]"
  }
}

Limitations and assumptions

  • No sequence, phase, genotype, phenotype, drug response or prescribing recommendation is inferred.
  • 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/variant-phasing-status-label — tool.io

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