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Allele Copy Count Record Label

Label an explicitly supplied allele copy count without estimating copy number or phenotype.

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Description

Label a supplied allele copy count.

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 supplied allele copy count.

When to use this tool

Use Allele Copy Count Record Label when you already have recordId, alleleLabel, reportedCopies and need to label a supplied allele copy count.

How to use the tool and how it works

  1. Enter recordId, alleleLabel, reportedCopies. 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/alleleLabel nonempty and reportedCopies a nonnegative safe whole number; append copies=N.1

Input fieldMeaning and unitsAccepted input
recordIdRecord IdRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
alleleLabelAllele LabelRequired. Text; minimum UTF-16 length 1; maximum UTF-16 length 8192.
reportedCopiesReported CopiesRequired. Safe integer; minimum 0.
Output fieldInterpretationReturned shape
labelLabelRequired. Text; maximum UTF-16 length 8192.
json
{
  "input": {
    "recordId": "R17",
    "alleleLabel": "*2",
    "reportedCopies": 3
  },
  "output": {
    "label": "R17; *2; copies=3"
  }
}

Limitations and assumptions

  • No copy number, variant, allele identity, phenotype or treatment implication is assessed.
  • 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.
  • Numeric calculations use binary floating point unless exact decimal-integer arithmetic is explicitly stated. No hidden measurement tolerance or decimal rounding is added; nonfinite or out-of-contract results are rejected. Numeric signed-zero results are exported as zero.

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/allele-copy-count-record-label — tool.io

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