Tag SNP Capture Coverage

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

Description

Tag SNPs can capture a union of target SNPs through supplied linkage edges.

Tag SNPs can capture a union of target SNPs through supplied linkage edges. Union counting avoids counting a target twice when several selected tags capture it.

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

When to use Tag SNP Capture Coverage

Use this for the following task: Audit union coverage of target SNPs from caller-provided selected-tag capture edges.

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

How to use Tag SNP Capture Coverage 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 selectedTags, targetSnps, edgeTags, edgeTargets using the field table, then run the tool.
  3. Read capturedSnps, uncapturedSnps, capturePercent. 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
selectedTagsSelected tagslist of string; each entry: stringRequired
targetSnpsTarget snpslist of string; each entry: stringRequired
edgeTagsEdge tagslist of string; each entry: stringRequired
edgeTargetsEdge targetslist of string; each entry: stringRequired

Supply distinct nonempty targets and aligned valid edge tags/targets. Keep edges whose tag is selected, build their target union and preserve target order in captured/uncaptured lists.1

capture% = 100 distinct captured targets/targetCount

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

Output fieldMeaningValue type
capturedSnpsCaptured snpslist of string
uncapturedSnpsUncaptured snpslist of string
capturePercentCapture percentnumber
json
{
  "input": {
    "selectedTags": [
      "T1"
    ],
    "targetSnps": [
      "A",
      "B",
      "C"
    ],
    "edgeTags": [
      "T1",
      "T1",
      "T2"
    ],
    "edgeTargets": [
      "A",
      "B",
      "C"
    ]
  },
  "output": {
    "capturedSnps": [
      "A",
      "B"
    ],
    "uncapturedSnps": [
      "C"
    ],
    "capturePercent": 66.66666666666667
  }
}

Limitations and assumptions

Linkage edges and thresholds are inputs. The tool does not estimate LD or optimize tag selection.

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 Solid Spine Haplotype Block for this operation: Extend a solid-spine block from the first SNP while both boundary SNPs retain caller-required linkage with all enclosed SNPs. For a complementary task, use Signed Dprime for this operation: Normalize signed linkage disequilibrium D by its sign-specific feasible maximum.

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

References

  1. Tag SNP Capture Coverage — tool.io

Similar or alternative tools

  • 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.

  • Signed Dprime

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

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