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VCF Genotype Allele Separator Flag

Inspect explicit separators in a VCF 4.5 GT token, including an optional first phase indicator, preserving missing alleles without validating allele indices or inferring omitted indicators.

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Description

Inspect allele tokens and phasing separators in a supplied genotype token.

Sequence formats distinguish coordinate origins, included endpoints, allele separators and identifier grammars. A genomic interbase position differs from a base number, and a parsed optional-field value may still violate its declared type. Local token checks preserve representation without validating a complete file, sequence, reference assembly or biological interpretation.

Inspect allele tokens and phasing separators in a supplied genotype token.

When to use this tool

Use VCF Genotype Allele Separator Flag when you already have genotypeToken and need to inspect allele tokens and phasing separators in a supplied genotype token.

How to use the tool and how it works

  1. Enter genotypeToken. 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 alleleTokens, separators, hasPhasedSeparator, hasUnphasedSeparator. Inspect hasPhasedSeparator, hasUnphasedSeparator before interpreting the associated values.

Accept digit strings or . alleles separated by / or |, optionally preceded by one / or |. Strip that leading separator only for allele splitting; return all separator characters and flags for either kind.1

Genotype allele notation uses allele indices or missing-allele markers with separators describing phasing relationships. A separator-presence flag is narrower than validating alleles, phase information and the surrounding variant record.2

Input fieldMeaning and unitsAccepted input
genotypeTokenAllele digit strings or . separated by / or |; one leading separator and mixed separator types are accepted.Required. Text; maximum UTF-16 length 8192.
Output fieldInterpretationReturned shape
alleleTokensAllele TokensRequired. Array of text; maximum UTF-16 length 8192; maximum items 256.
separatorsSeparatorsRequired. Array of text; maximum UTF-16 length 8192; maximum items 256.
hasPhasedSeparatorTrue if any | occurs, including a leading separator; not proof of fully phased genotype.Required. Boolean.
hasUnphasedSeparatorHas Unphased SeparatorRequired. Boolean.
json
{
  "input": {
    "genotypeToken": "0|1"
  },
  "output": {
    "alleleTokens": [
      "0",
      "1"
    ],
    "separators": [
      "|"
    ],
    "hasPhasedSeparator": true,
    "hasUnphasedSeparator": false
  }
}

Limitations and assumptions

  • Mixed separators and leading zeros are accepted. A phased-separator flag does not establish fully phased alleles; ploidy, allele bounds, missingness interpretation and a complete VCF record are not validated.
  • 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 the complete applicable file specification and a full format validator for conformance. Verify reference assembly, sequence bounds, annotation and database context before interpreting local fields or coordinate transformations.

References

  1. Calculation and input contract: bioinformatics/vcf-genotype-allele-separator-flag — tool.io

  2. Variant Call Format Specification, VCF 4.5 — VCF/BCF specification maintainers

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