High-Order Epistasis Detection Using Factorization Machine with Quadratic Optimization Annealing and MDR-Based Evaluation

Fuente: arXiv
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Auteurs principaux: Kikuchi, Shuta, Tanaka, Shu
Format: Preprint
Publié: 2026
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author Kikuchi, Shuta
Tanaka, Shu
author_facet Kikuchi, Shuta
Tanaka, Shu
contents Detecting high-order epistasis is a fundamental challenge in genetic association studies due to the combinatorial explosion of candidate locus combinations. Although multifactor dimensionality reduction (MDR) is a widely used method for evaluating epistasis, exhaustive MDR-based searches become computationally infeasible as the number of loci or the interaction order increases. In this paper, we define the epistasis detection problem as a black-box optimization problem and solve it with a factorization machine with quadratic-optimization annealing (FMQA). We propose an efficient epistasis detection method based on FMQA, in which the classification error rate (CER) computed by MDR is used as a black-box objective function. Experimental evaluations were conducted using simulated case-control datasets with predefined high-order epistasis. The results demonstrate that the proposed method successfully identified ground-truth epistasis across various interaction orders and the numbers of genetic loci within a limited number of iterations. These results indicate that the proposed method is effective and computationally efficient for high-order epistasis detection.
format Preprint
id arxiv_https___arxiv_org_abs_2601_01860
institution arXiv
publishDate 2026
record_format arxiv
spellingShingle High-Order Epistasis Detection Using Factorization Machine with Quadratic Optimization Annealing and MDR-Based Evaluation
Kikuchi, Shuta
Tanaka, Shu
Machine Learning
Quantum Physics
Detecting high-order epistasis is a fundamental challenge in genetic association studies due to the combinatorial explosion of candidate locus combinations. Although multifactor dimensionality reduction (MDR) is a widely used method for evaluating epistasis, exhaustive MDR-based searches become computationally infeasible as the number of loci or the interaction order increases. In this paper, we define the epistasis detection problem as a black-box optimization problem and solve it with a factorization machine with quadratic-optimization annealing (FMQA). We propose an efficient epistasis detection method based on FMQA, in which the classification error rate (CER) computed by MDR is used as a black-box objective function. Experimental evaluations were conducted using simulated case-control datasets with predefined high-order epistasis. The results demonstrate that the proposed method successfully identified ground-truth epistasis across various interaction orders and the numbers of genetic loci within a limited number of iterations. These results indicate that the proposed method is effective and computationally efficient for high-order epistasis detection.
title High-Order Epistasis Detection Using Factorization Machine with Quadratic Optimization Annealing and MDR-Based Evaluation
topic Machine Learning
Quantum Physics
url https://arxiv.org/abs/2601.01860