Phenotype Class Aggregation

Aggregate genotype-class probabilities into caller-defined phenotype percentages.

Description

Several genotype classes can map to the same phenotype.

Several genotype classes can map to the same phenotype. Combining their probability masses produces phenotype percentages under the supplied mapping.

Aggregate genotype-class probabilities into caller-defined phenotype percentages.

When to use Phenotype Class Aggregation

Use this for the following task: Aggregate genotype-class probabilities into caller-defined phenotype percentages.

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

How to use Phenotype Class Aggregation 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 genotypeClasses, genotypeProbabilities, phenotypeLabels using the field table, then run the tool.
  3. Read phenotypes, phenotypePercentages. 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
genotypeClassesGenotype classeslist of string; each entry: stringRequired
genotypeProbabilitiesGenotype probabilitieslist of number; each entry: numberRequired
phenotypeLabelsPhenotype labelslist of string; each entry: stringRequired

Align distinct genotype classes with probabilities and phenotype labels. Require probability sum within 1e−10 of one and return phenotype keys in first-occurrence order.1

phenotypePercent = 100 Σ genotype probabilities mapped to that phenotype

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

Output fieldMeaningValue type
phenotypesPhenotypeslist of string
phenotypePercentagesPhenotype percentageslist of number
json
{
  "input": {
    "genotypeClasses": [
      "AA",
      "Aa",
      "aa"
    ],
    "genotypeProbabilities": [
      0.25,
      0.5,
      0.25
    ],
    "phenotypeLabels": [
      "dominant",
      "dominant",
      "recessive"
    ]
  },
  "output": {
    "phenotypes": [
      "dominant",
      "recessive"
    ],
    "phenotypePercentages": [
      75,
      25
    ]
  }
}

Limitations and assumptions

Dominance and genotype-to-phenotype rules are caller inputs; no biological mapping is inferred.

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 Weighted Gamete Grid for this operation: Build a weighted gamete-combination grid allowing caller-supplied transmission probabilities. For a complementary task, use ABO Genotype Cross for this operation: Resolve Mendelian ABO phenotype probabilities from the supplied parental allele pairs.

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

References

  1. Phenotype Class Aggregation — tool.io

Similar or alternative tools

  • Weighted Gamete Grid

    Build a weighted gamete-combination grid allowing caller-supplied transmission probabilities.

  • ABO Genotype Cross

    Resolve Mendelian ABO phenotype probabilities from the supplied parental allele pairs.

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