epiMEIF

epiMEIF detects high-order epistatic interactions among single nucleotide polymorphisms (SNPs) to elucidate genetic contributions to complex quantitative phenotypes.


Key Features:

  • Higher-Order Epistasis Detection: Identifies n-way epistatic interactions beyond pairwise associations that are often missed by traditional Genome-wide association studies (GWAS).
  • Mixed Effect Conditional Inference Forests: Employs mixed effect conditional inference forests that integrate mixed effects models with conditional inference trees.
  • Tree Structure Utilization: Leverages the tree structure within the forest to detect intricate n-way interactions among SNPs.
  • Robust Testing Strategies: Incorporates additional testing strategies to assess the statistical significance and robustness of detected interactions.
  • Simulation Validation: Validated through simulations on cross-sectional and longitudinal synthetic datasets to confirm detection of true n-way interactions.
  • Application to Real-World Data: Applied to natural variation data of cardiac traits in Drosophila to reveal epistatic interactions contributing to phenotypic diversity.

Scientific Applications:

  • Genomic architecture analysis: Dissects the genetic architecture of complex traits by identifying interacting loci that influence phenotypic variation.
  • GWAS augmentation: Enhances GWAS analyses by detecting high-order SNP interactions not captured by standard single-marker approaches.
  • Multifactorial disease research: Supports studies of multifactorial diseases and traits by mapping complex epistatic relationships among loci.
  • Drosophila cardiac trait studies: Applied to natural variation in Drosophila cardiac traits to uncover epistatic contributors to phenotype diversity.
  • Translational insights: Informs research that may contribute to improved diagnostic, prognostic, and therapeutic strategies for complex conditions.

Methodology:

Implements mixed effect conditional inference forests by integrating mixed effects models with conditional inference trees; uses tree structures to identify n-way SNP interactions; applies additional testing strategies for significance assessment; validated via simulations on cross-sectional and longitudinal synthetic datasets and applied to Drosophila cardiac trait data.

Topics

Details

License:
Not licensed
Tool Type:
command-line tool
Operating Systems:
Mac, Linux, Windows
Programming Languages:
R
Added:
11/3/2022
Last Updated:
11/24/2024

Operations

Publications

Saha S, Perrin L, Röder L, Brun C, Spinelli L. Epi-MEIF: detecting higher order epistatic interactions for complex traits using mixed effect conditional inference forests. Nucleic Acids Research. 2022;50(19):e114-e114. doi:10.1093/nar/gkac715. PMID:36107776. PMCID:PMC9639209.

PMID: 36107776
PMCID: PMC9639209
Funding: - French National Research Agency: ANR-16-CONV-0001 - Fondation de France: 00071034