Maternal Transmission Evidence

Audit documented transmission edges for maternal-only inheritance, without establishing mitochondrial causation.

Description

Maternal-only documented transmission is compatible with some inheritance models.

Maternal-only documented transmission is compatible with some inheritance models. It describes the observed edges without establishing mitochondrial causation.1

Audit documented transmission edges for maternal-only inheritance, without establishing mitochondrial causation.

When to use Maternal Transmission Evidence

Use this for the following task: Audit documented transmission edges for maternal-only inheritance, without establishing mitochondrial causation.

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

How to use Maternal Transmission Evidence 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 transmittingParentSexes, offspringSexes using the field table, then run the tool.
  3. Read maternalTransmissionCount, paternalTransmissionIndexes, maternalOnlyObserved. 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
transmittingParentSexesTransmitting parent sexeslist of string; each entry: stringRequired
offspringSexesOffspring sexeslist of string; each entry: stringRequired

Align explicit male/female labels for transmitting parents and offspring. Count female-parent transmissions and return zero-based paternal-edge indices.2

maternalOnlyObserved = no male transmitting-parent entries

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

Output fieldMeaningValue type
maternalTransmissionCountMaternal transmission countnumber
paternalTransmissionIndexesPaternal transmission indexeslist of number
maternalOnlyObservedMaternal only observedboolean
json
{
  "input": {
    "transmittingParentSexes": [
      "female",
      "female",
      "male"
    ],
    "offspringSexes": [
      "male",
      "female",
      "male"
    ]
  },
  "output": {
    "maternalTransmissionCount": 2,
    "paternalTransmissionIndexes": [
      2
    ],
    "maternalOnlyObserved": false
  }
}

Limitations and assumptions

Transmission must already be documented rather than inferred from phenotype coincidence. No mitochondrial genotype or heteroplasmy analysis is performed.

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 Father Son Transmission Evidence for this operation: Audit whether documented transmission edges are exclusively father-to-son. For a complementary task, use X Dominant Daughter Evidence for this operation: Audit affected-father daughter observations against a fully penetrant X-dominant model.

Further background: Inheritance patterns.

References

  1. Inheritance patterns — National Library of Medicine

  2. Maternal Transmission Evidence — tool.io

Similar or alternative tools

Don't forget to set a bookmark for tool.io!
Privacy | Imprint | Cookies