Mitochondrial Region Coverage

Map unioned sequence coverage to caller-defined mitochondrial hypervariable regions.

Description

Coverage of mitochondrial regions should use interval unions so overlapping reads or ranges do not inflate covered bases.

Coverage of mitochondrial regions should use interval unions so overlapping reads or ranges do not inflate covered bases. Each region has its own coverage denominator.

Map unioned sequence coverage to caller-defined mitochondrial hypervariable regions.

When to use Mitochondrial Region Coverage

Use this for the following task: Map unioned sequence coverage to caller-defined mitochondrial hypervariable regions.

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

How to use Mitochondrial Region 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 regionNames, regionStarts, regionEnds, coveredStarts, coveredEnds using the field table, then run the tool.
  3. Read coveredBases, coveragePercent. 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
regionNamesRegion nameslist of string; each entry: stringRequired
regionStartsZero-based half-open interval starts; coverage overlaps are unioned.list of number; each entry: numberRequired
regionEndsRegion endslist of number; each entry: numberRequired
coveredStartsCovered startslist of number; each entry: numberRequired
coveredEndsCovered endslist of number; each entry: numberRequired

Supply aligned positive-length zero-based half-open regions and coverage intervals. Sort and merge touching/overlapping coverage, then intersect with each region.1

covered region bases = sum of intersection lengths with unioned coverage; percent = 100 covered/regionLength

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

Output fieldMeaningValue type
coveredBasesCovered baseslist of number
coveragePercentCoverage percentlist of number
json
{
  "input": {
    "regionNames": [
      "HV1",
      "HV2"
    ],
    "regionStarts": [
      0,
      100
    ],
    "regionEnds": [
      50,
      150
    ],
    "coveredStarts": [
      10,
      90
    ],
    "coveredEnds": [
      40,
      160
    ]
  },
  "output": {
    "coveredBases": [
      30,
      50
    ],
    "coveragePercent": [
      60,
      100
    ]
  }
}

Limitations and assumptions

Circular-origin-spanning regions must be represented appropriately by the caller. No mitochondrial reference or fixed hypervariable-region definition is embedded.

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 BED Intersection for this operation: Intersect two chromosome-aware zero-based half-open BED intervals. For a complementary task, use STR Panel Completeness for this operation: Audit STR panel completeness against a caller-supplied locus set, not an embedded legacy policy.

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

References

  1. Mitochondrial Region Coverage — tool.io

Similar or alternative tools

  • BED Intersection

    Intersect two chromosome-aware zero-based half-open BED intervals.

  • STR Panel Completeness

    Audit STR panel completeness against a caller-supplied locus set, not an embedded legacy policy.

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