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Research Haplotype Phase Block Span Tool

Measure supplied research phase-block coordinates while preserving unknown-block status; no haplotype inference.

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Description

Measure supplied research phase-block coordinates while preserving unknown-block status; no haplotype inference.

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.

Measure supplied research phase-block coordinates while preserving unknown-block status; no haplotype inference.

When to use this tool

Use Research Haplotype Phase Block Span 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 startPosition, endPosition, blockKnown, includeEnd. 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 spanDefined, span. Inspect spanDefined before interpreting the associated values.

Return spanDefined=blockKnown and span=endPosition-startPosition plus one if includeEnd when known; require ordered endpoints only on that branch. An unknown block returns span=0.1

Input fieldMeaning and unitsAccepted input
startPositionStart PositionRequired. Safe integer.
endPositionEnd PositionRequired. Safe integer.
blockKnownSupplied assertion that a span is known; false yields a zero placeholder.Required. Boolean.
includeEndInclude EndRequired. Boolean.
Output fieldInterpretationReturned shape
spanDefinedSpan DefinedRequired. Boolean.
spanCoordinate span under the stated endpoint policy.Required. Safe integer.
json
{
  "input": {
    "startPosition": 100,
    "endPosition": 150,
    "blockKnown": true,
    "includeEnd": true
  },
  "output": {
    "spanDefined": true,
    "span": 51
  }
}

Limitations and assumptions

  • Coordinates must share a reference and origin. Unknown blocks bypass endpoint order checks, and zero span is a placeholder; no phase block is inferred from variants or reads.
  • 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. Signed zero is exported as zero.

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/research-haplotype-phase-block-span — tool.io

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