Genotype Carrier Penetrance
Estimate observed penetrance among assessed carriers of a defined genotype.
Description
Penetrance is the proportion of assessed genotype carriers expressing a defined phenotype.
Penetrance is the proportion of assessed genotype carriers expressing a defined phenotype. Its estimate depends on the group and observation conditions.1
Estimate observed penetrance among assessed carriers of a defined genotype.
When to use Genotype Carrier Penetrance
Use this for the following task: Estimate observed penetrance among assessed carriers of a defined genotype.
Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.
How to use Genotype Carrier Penetrance and understand its results
- Prepare the observed records or explicit model parameters requested below. Keep probabilities as fractions and paired records aligned.
- Enter genotypeCarriers, expressiveCarriers using the field table, then run the tool.
- Read penetrancePercent, nonexpressiveCarriers. 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 |
|---|---|---|---|
| genotypeCarriers | Genotype carriers | integer | Required |
| expressiveCarriers | Expressive carriers | integer | Required |
Require a positive carrier count and nonnegative expressive count no greater than it. Return observed percent and nonexpressive count.2
penetrance% = 100 expressiveCarriers/genotypeCarriers This summarizes the declared operation. Units, indexing, inclusivity and exceptional cases are explained in the surrounding text.
| Output field | Meaning | Value type |
|---|---|---|
| penetrancePercent | Penetrance percent | number |
| nonexpressiveCarriers | Nonexpressive carriers | number |
{
"input": {
"genotypeCarriers": 100,
"expressiveCarriers": 80
},
"output": {
"penetrancePercent": 80,
"nonexpressiveCarriers": 20
}
}Limitations and assumptions
Age, ascertainment and diagnostic criteria are not adjusted. This is an observed fraction without confidence intervals.
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 Expressivity Grade Distribution for this operation: Summarize a caller-defined ordinal expressivity scale without assigning disease severity from symptoms. For a complementary task, use X Recessive Son Risk for this operation: Compute an X-recessive carrier-mother son-risk model with explicit carrier prior, birth sex probability, and penetrance.
Further background: Penetrance and expressivity.
References
-
Penetrance and expressivity — National Library of Medicine
-
Genotype Carrier Penetrance — tool.io
Similar or alternative tools
- Expressivity Grade Distribution
Summarize a caller-defined ordinal expressivity scale without assigning disease severity from symptoms.
- X Recessive Son Risk
Compute an X-recessive carrier-mother son-risk model with explicit carrier prior, birth sex probability, and penetrance.