Expressivity Grade Distribution

Summarize a caller-defined ordinal expressivity scale without assigning disease severity from symptoms.

Description

Expressivity concerns variation in phenotype among individuals.

Expressivity concerns variation in phenotype among individuals. A supplied ordinal grading scale can be summarized by its observed distribution.^[1]

Summarize a caller-defined ordinal expressivity scale without assigning disease severity from symptoms.

When to use Expressivity Grade Distribution

Use this for the following task: Summarize a caller-defined ordinal expressivity scale without assigning disease severity from symptoms.

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

How to use Expressivity Grade Distribution and understand its results

Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.
Enter severityGrades, minimumGrade, maximumGrade using the field table, then run the tool.
Read meanGrade, gradeValues, gradeCounts. 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
severityGrades	Severity grades	list of number; each entry: number	Required
minimumGrade	Minimum grade	integer	Required
maximumGrade	Maximum grade	integer	Required

Use nonempty integer grades inside ordered nonnegative scale bounds. Return observed grades sorted numerically with counts and their arithmetic mean.^[2]

meanGrade=Σgrades/count; gradeCounts=tally of each observed grade

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

Output field	Meaning	Value type
meanGrade	Mean grade	number
gradeValues	Grade values	list of number
gradeCounts	Grade counts	list of number

json

{
  "input": {
    "severityGrades": [
      1,
      3,
      5,
      3
    ],
    "minimumGrade": 1,
    "maximumGrade": 5
  },
  "output": {
    "meanGrade": 3,
    "gradeValues": [
      1,
      3,
      5
    ],
    "gradeCounts": [
      1,
      2,
      1
    ]
  }
}

Limitations and assumptions

Ordinal grades may not have equal intervals. This does not assign grades from symptoms or identify disease severity.

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 Genotype Carrier Penetrance for this operation: Estimate observed penetrance among assessed carriers of a defined genotype. For a complementary task, use Multisystem Phenotype Tally for this operation: Summarize observed symptoms across body systems without inferring a genetic cause.

Further background: Penetrance and expressivity.

References

Penetrance and expressivity — National Library of Medicine
Expressivity Grade Distribution — tool.io

Similar or alternative tools

Genotype Carrier Penetrance
Estimate observed penetrance among assessed carriers of a defined genotype.
Multisystem Phenotype Tally
Summarize observed symptoms across body systems without inferring a genetic cause.