Recessive Sibling Pedigree Pattern

Locate affected-sibling clusters with unaffected parents; pattern evidence is not proof of recessive inheritance.

Description

Affected siblings with unaffected parents can form a horizontal pedigree pattern consistent with recessive inheritance.

Affected siblings with unaffected parents can form a horizontal pedigree pattern consistent with recessive inheritance. Such a pattern is evidence rather than a unique explanation.^[1]

Locate affected-sibling clusters with unaffected parents; pattern evidence is not proof of recessive inheritance.

When to use Recessive Sibling Pedigree Pattern

Use this for the following task: Locate affected-sibling clusters with unaffected parents; pattern evidence is not proof of recessive inheritance.

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

How to use Recessive Sibling Pedigree Pattern and understand its results

Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.
Enter familyIds, motherAffectedFlags, fatherAffectedFlags, affectedSiblingCounts using the field table, then run the tool.
Read horizontalClusterFamilies, consistentFamilyCount. Interpret flags, units, ordering and placeholder values using the rules below.
Review any reported issue or failed check, correct the supplied values when appropriate, and verify the result in its intended context.

Input field	Meaning	Value type and bounds	Requirement
familyIds	Family ids	list of string; each entry: string	Required
motherAffectedFlags	Mother affected flags	list of number; each entry: number	Required
fatherAffectedFlags	Father affected flags	list of number; each entry: number	Required
affectedSiblingCounts	Affected sibling counts	list of number; each entry: number	Required

Align family IDs, numeric 0/1 parental phenotype flags and nonnegative integer affected-sibling counts. Return matching family IDs and count.^[2]

qualifies = motherFlag==0 AND fatherFlag==0 AND affectedSiblings≥2

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

Output field	Meaning	Value type
horizontalClusterFamilies	Horizontal cluster families	list of string
consistentFamilyCount	Consistent family count	number

json

{
  "input": {
    "familyIds": [
      "A",
      "B"
    ],
    "motherAffectedFlags": [
      0,
      1
    ],
    "fatherAffectedFlags": [
      0,
      0
    ],
    "affectedSiblingCounts": [
      2,
      1
    ]
  },
  "output": {
    "horizontalClusterFamilies": [
      "A"
    ],
    "consistentFamilyCount": 1
  }
}

Limitations and assumptions

Carrier status, de novo events, penetrance and family ascertainment are not evaluated.

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 Dominant Generation Pedigree Pattern for this operation: Summarize consecutive affected pedigree generations as evidence consistent with vertical inheritance. For a complementary task, use Two Generation Bayes Update for this operation: Apply sequential family-evidence likelihood ratios from two generations to a prior risk.

Further background: Inheritance patterns.

References

Inheritance patterns — National Library of Medicine
Recessive Sibling Pedigree Pattern — tool.io

Similar or alternative tools

Dominant Generation Pedigree Pattern
Summarize consecutive affected pedigree generations as evidence consistent with vertical inheritance.
Two Generation Bayes Update
Apply sequential family-evidence likelihood ratios from two generations to a prior risk.