Solid Spine Haplotype Block

Extend a solid-spine block from the first SNP while both boundary SNPs retain caller-required linkage with all enclosed SNPs.

Description

A solid-spine haplotype block requires both boundary SNPs to remain linked with enclosed SNPs.

A solid-spine haplotype block requires both boundary SNPs to remain linked with enclosed SNPs. This can differ from requiring strong linkage for every internal pair.

Extend a solid-spine block from the first SNP while both boundary SNPs retain caller-required linkage with all enclosed SNPs.

When to use Solid Spine Haplotype Block

Use this for the following task: Extend a solid-spine block from the first SNP while both boundary SNPs retain caller-required linkage with all enclosed SNPs.

Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.

How to use Solid Spine Haplotype Block and understand its results

  1. Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.
  2. Enter snpIds, dprimeMatrix, minimumAbsoluteDprime using the field table, then run the tool.
  3. Read blockEndIndex, blockSnps. Interpret flags, units, ordering and placeholder values using the rules below.
  4. Review any reported issue or failed check, correct the supplied values when appropriate, and verify the result in its intended context.
Input fieldMeaningValue type and boundsRequirement
snpIdsSnp idslist of string; each entry: stringRequired
dprimeMatrixDprime matrixlist of list of number; each entry: list of number; each entry: numberRequired
minimumAbsoluteDprimeMinimum absolute dprimenumberRequired

Supply at most 128 distinct ordered SNPs with a square signed D-prime matrix, symmetric within 1e−10. Starting at the first SNP, extend until the first failing endpoint and return the inclusive zero-based block end.1

extend while |D′(first,j)| and |D′(candidateEnd,j)| ≥ cutoff for all relevant j

This summarizes the declared operation. Units, indexing, inclusivity and exceptional cases are explained in the surrounding text.

Output fieldMeaningValue type
blockEndIndexBlock end indexnumber
blockSnpsBlock snpslist of string
json
{
  "input": {
    "snpIds": [
      "A",
      "B",
      "C"
    ],
    "dprimeMatrix": [
      [
        1,
        0.9,
        0.9
      ],
      [
        0.9,
        1,
        0.2
      ],
      [
        0.9,
        0.2,
        1
      ]
    ],
    "minimumAbsoluteDprime": 0.8
  },
  "output": {
    "blockEndIndex": 1,
    "blockSnps": [
      "A",
      "B"
    ]
  }
}

Limitations and assumptions

Only the block anchored at the first SNP is returned. The matrix and criterion are inputs; no full block partition is built.

The tool evaluates supplied observations or a declared model. It does not establish the biological cause of an observed pattern. Malformed requests produce input errors. A successfully evaluated request can still contain false flags, empty result lists or a result outside the supplied threshold; those outcomes have the meanings stated above.

Alternative or Complementary methods

Choose Signed Dprime for this operation: Normalize signed linkage disequilibrium D by its sign-specific feasible maximum. For a complementary task, use Tag SNP Capture Coverage for this operation: Audit union coverage of target SNPs from caller-provided selected-tag capture edges.

The implementation reference documents the exact calculation, supported input shapes and returned fields.

References

  1. Solid Spine Haplotype Block — tool.io

Similar or alternative tools

  • Signed Dprime

    Normalize signed linkage disequilibrium D by its sign-specific feasible maximum.

  • Tag SNP Capture Coverage

    Audit union coverage of target SNPs from caller-provided selected-tag capture edges.

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