Evaluation of epistasis detection methods for quantitative phenotypes.

ABSTRACT:

Background

Epistasis, or genetic interaction, has been increasingly recognized for its ubiquity and for its role in susceptibility to common human diseases, such as Alzheimer's. A wide variety of epistasis detection tools are currently available with several studies comparing the performance of methods suitable for case-control data. However, there is limited understanding of how well these tools perform with quantitative phenotypes.

Methods

We identified six epistasis detection methods suitable for quantitative phenotype data: EpiSNP, Matrix Epistasis, MIDESP, PLINK Epistasis, QMDR, and REMMA. To evaluate these tools, we generated simulated datasets using EpiGEN. The datasets modeled various pairwise interactions between disease-associated SNPs, including dominant, multipli

SUBMITTER: Listopad S 

PROVIDER: S-EPMC12132564 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature