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Allele Source Edition Gap Tool

Calculate allele source edition gap from explicit caller-supplied inputs.

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Description

Count rows with an edition different from requiredEdition, rows whose allele is absent from verifiedAlleles, and rows meeting both checks as fullySupported.

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.

Count rows with an edition different from requiredEdition, rows whose allele is absent from verifiedAlleles, and rows meeting both checks as fullySupported.

When to use this tool

Use Allele Source Edition Gap 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 alleleIds, recordedEditions, requiredEdition, verifiedAlleles. Keep parallel arrays aligned. 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 editionMismatches, unverifiedAlleles, fullySupported. Use the output convention below.

Require aligned alleleIds and recordedEditions. Count rows with an edition different from requiredEdition, rows whose allele is absent from verifiedAlleles, and rows meeting both checks as fullySupported.1

Input fieldMeaning and unitsAccepted input
alleleIdsAllele IdsRequired. Array of text; maximum UTF-16 length 8192; maximum items 256.
recordedEditionsRecorded EditionsRequired. Array of text; maximum UTF-16 length 8192; maximum items 256.
requiredEditionRequired EditionRequired. Text; maximum UTF-16 length 8192.
verifiedAllelesVerified AllelesRequired. Array of text; maximum UTF-16 length 8192; maximum items 256.
Output fieldInterpretationReturned shape
editionMismatchesEdition MismatchesRequired. Safe integer.
unverifiedAllelesUnverified AllelesRequired. Safe integer.
fullySupportedFully SupportedRequired. Safe integer.
json
{
  "input": {
    "alleleIds": [
      "a",
      "b"
    ],
    "recordedEditions": [
      "v2",
      "v1"
    ],
    "requiredEdition": "v2",
    "verifiedAlleles": [
      "a"
    ]
  },
  "output": {
    "editionMismatches": 1,
    "unverifiedAlleles": 1,
    "fullySupported": 1
  }
}

Limitations and assumptions

  • Counts are row-based, so duplicate allele IDs count repeatedly. The supplied edition and verification list are not independently authenticated or checked for current clinical guidance.
  • 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/allele-source-edition-gap — tool.io

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