Related Experiment Video
Updated: Jul 1, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Identifying modifier genes of monogenic disease: strategies and difficulties
Emmanuelle Génin1, Josué Feingold, Françoise Clerget-Darpoux
1Inserm UMR-S535, 94817, Villejuif, France.
Abstract:
Substantial clinical variability is observed in many Mendelian diseases, so that patients with the same mutation may develop a very severe form of disease, a mild form or show no symptoms at all. Among the factors that may explain these differences in disease expression are modifier genes. In this paper, we review the different strategies that can be used to identify modifier genes and explain their advantages and limitations. We focus mainly on the statistical aspects but illustrate our points with a variety of examples from the literature.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Incomplete Dominance
Genetic Lingo
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Principles of Pharmacogenetics: Types of Genetic Variants
Pedigree Analysis

