Father Son Transmission Evidence

Audit whether documented transmission edges are exclusively father-to-son.

Description

Father-to-son transmission edges are one observable pedigree pattern.

Father-to-son transmission edges are one observable pedigree pattern. Auditing those edges describes evidence without establishing a chromosomal cause.1

Audit whether documented transmission edges are exclusively father-to-son.

When to use Father Son Transmission Evidence

Use this for the following task: Audit whether documented transmission edges are exclusively father-to-son.

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

How to use Father Son 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 parentSexes, childSexes using the field table, then run the tool.
  3. Read fatherSonCount, inconsistentEdgeIndexes, fatherSonOnlyObserved. 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
parentSexesParent sexeslist of string; each entry: stringRequired
childSexesChild sexeslist of string; each entry: stringRequired

Align explicit male/female parent and child labels for documented transmissions. Count male-to-male edges and return zero-based indices of every other edge.2

fatherSonOnlyObserved = every parent and child label is male

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

Output fieldMeaningValue type
fatherSonCountFather son countnumber
inconsistentEdgeIndexesInconsistent edge indexeslist of number
fatherSonOnlyObservedFather son only observedboolean
json
{
  "input": {
    "parentSexes": [
      "male",
      "male",
      "female"
    ],
    "childSexes": [
      "male",
      "female",
      "male"
    ]
  },
  "output": {
    "fatherSonCount": 1,
    "inconsistentEdgeIndexes": [
      1,
      2
    ],
    "fatherSonOnlyObserved": false
  }
}

Limitations and assumptions

The tool does not establish Y-linkage or rule out autosomal inheritance.

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 Maternal Transmission Evidence for this operation: Audit documented transmission edges for maternal-only inheritance, without establishing mitochondrial causation. 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. Father Son Transmission Evidence — tool.io

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