Genomic Scar Composite

Combine supplied LOH, telomeric imbalance, and large-transition counts with explicit weights; not a clinical HRD test.

Description

Genomic scar summaries can combine different structural event counts.

Genomic scar summaries can combine different structural event counts. The score depends on explicit component definitions and weights.

Combine supplied LOH, telomeric imbalance, and large-transition counts with explicit weights; not a clinical HRD test.

When to use Genomic Scar Composite

Use this for the following task: Combine supplied LOH, telomeric imbalance, and large-transition counts with explicit weights; not a clinical HRD test.

Prepare the caller-filtered sequences, counts, coordinates or annotations requested below. Keep identifiers and paired lists aligned on the same reference.

How to use Genomic Scar Composite and understand its results

  1. Prepare the caller-filtered sequences, counts, coordinates or annotations requested below. Keep identifiers and paired lists aligned on the same reference.
  2. Enter lohEvents, telomericImbalances, largeTransitions, componentWeights, scoreThreshold using the field table, then run the tool.
  3. Read compositeScore, aboveThreshold. 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
lohEventsLoh eventsinteger; minimum 0Required
telomericImbalancesTelomeric imbalancesinteger; minimum 0Required
largeTransitionsLarge transitionsinteger; minimum 0Required
componentWeightsComponent weightslist of number; minimum entries 3; maximum entries 3; each entry: number; minimum 0Required
scoreThresholdScore thresholdnumber; minimum 0Required

Supply supported counts, exactly three aligned weights and a threshold. Sum weighted components and set aboveThreshold when score is at least the threshold.1

score = LOH×w0 + telomericImbalance×w1 + largeTransition×w2

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

Output fieldMeaningValue type
compositeScoreComposite scorenumber
aboveThresholdAbove thresholdboolean
json
{
  "input": {
    "lohEvents": 3,
    "telomericImbalances": 2,
    "largeTransitions": 4,
    "componentWeights": [
      1,
      2,
      1
    ],
    "scoreThreshold": 10
  },
  "output": {
    "compositeScore": 11,
    "aboveThreshold": true
  }
}

Limitations and assumptions

No events are detected or standardized here. This is not a clinical homologous-recombination-deficiency test.

The tool operates on supplied local data; alignment, filtering and annotation must already be appropriate for the stated calculation. 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 Loh Segments for this operation: Merge contiguous segments meeting a supplied minor-allele copy-number LOH criterion. For a complementary task, use Copy Number Switches for this operation: Count copy-number state switches as an oscillation feature, not a chromothripsis diagnosis.

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

References

  1. Genomic Scar Composite — tool.io

Similar or alternative tools

  • Loh Segments

    Merge contiguous segments meeting a supplied minor-allele copy-number LOH criterion.

  • Copy Number Switches

    Count copy-number state switches as an oscillation feature, not a chromothripsis diagnosis.

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