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Diplotype Separator Label

Join explicitly supplied allele labels with an explicit unphased or phased separator without assigning a diplotype.

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Description

Join two allele labels with a supplied diplotype separator.

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.

Join two allele labels with a supplied diplotype separator.

When to use this tool

Use Diplotype Separator Label when you already have firstAllele, secondAllele, separator and need to join two allele labels with a supplied diplotype separator.

How to use the tool and how it works

  1. Enter firstAllele, secondAllele, separator. 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 both allele strings nonempty and separator exactly / or |; concatenate the three strings.1

Input fieldMeaning and unitsAccepted input
firstAlleleFirst AlleleRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
secondAlleleSecond AlleleRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
separatorExactly / or | as a supplied display convention; phasing is not established.Required. Text; one of "/", "|"; maximum UTF-16 length 8192.
Output fieldInterpretationReturned shape
labelLabelRequired. Text; maximum UTF-16 length 8192.
json
{
  "input": {
    "firstAllele": "*1",
    "secondAllele": "*4",
    "separator": "/"
  },
  "output": {
    "label": "*1/*4"
  }
}

Limitations and assumptions

  • Allele syntax and phasing are not verified; the separator is a supplied display convention rather than biological evidence.
  • 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/diplotype-separator-label — tool.io

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