Determination of Penetrance
Penetrance analysis is figuring out what percentage of people who carry a certain genetic mutation really display the phenotype or attribute that goes along with it.
- Only large-scale demographic studies are able to determine penetration.
- The more people with a mutation who can be examined for presence or absence of the associated phenotype, the more accurate the penetrance estimate will be.
- A web-based tool named ‘CalPen’ is used for calculation of penetrance and its credible intervals. It is used by entering the number of mutations identified in controls and patients, and the number of patients and controls studied.
- For validation purposes, it is shown that CalPen-derived penetrance values are in good agreement with the published values.
Penetrance
Penetrance helps in understanding the basics of genetics including the relationship between the genetic mutations and the expression of the associated traits. It explains how the traits are shaped by the genes and the numerous factors that contribute to the variations in gene expression. Identifying the genetic mutation can help in predicting the expression of a trait and if it is expressed as a disease, preventive measures can be followed.
Table of Content
- What is Penetrance?
- What Are the Types of Penetrance?
- How Is the Penetrance Calculated?
- What Is the Association Between Penetrance and Expressivity?
- Causes of Penetrance
- Diseases Associated with Penetrance
- Determination of Penetrance
- Importance of Penetrance in Clinical Settings
- Difference between Penetrance and Expressivity