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We consider in this paper detection of signal regions associated with disease outcomes in whole genome association studies. Gene- or region-based methods have become increasingly popular in whole genome association analysis as a…

Methodology · Statistics 2020-09-30 Zilin Li , Yaowu Liu , Xihong Lin

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

Genomics · Quantitative Biology 2026-03-10 Muhammad Muneeb , David B. Ascher , YooChan Myung

Understanding the genetic underpinnings of complex traits and diseases has been greatly advanced by genome-wide association studies (GWAS). However, a significant portion of trait heritability remains unexplained, known as ``missing…

Genomics · Quantitative Biology 2024-09-05 Samhita Pal , Xinge Jessie Jeng

Modern genomics research relies on genome-wide association studies (GWAS) to identify the few genetic variants among potentially millions that are associated with diseases of interest. Only reproducible discoveries of groups of associations…

Methodology · Statistics 2024-10-08 Jasin Machkour , Michael Muma , Daniel P. Palomar

Feature Selection (FS) has become the focus of much research on decision support systems areas for which data sets with tremendous number of variables are analyzed. In this paper we present a new method for the diagnosis of Coronary Artery…

Machine Learning · Computer Science 2013-05-28 Sidahmed Mokeddem , Baghdad Atmani , Mostefa Mokaddem

Feature selection from a large number of covariates (aka features) in a regression analysis remains a challenge in data science, especially in terms of its potential of scaling to ever-enlarging data and finding a group of scientifically…

Machine Learning · Statistics 2020-02-10 Yiying Fan , Jiayang Sun

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

Retrieving gene functional networks from knowledge databases presents a challenge due to the mismatch between disease networks and subtype-specific variations. Current solutions, including statistical and deep learning methods, often fail…

Machine Learning · Computer Science 2025-02-25 Ziwei Yang , Zheng Chen , Xin Liu , Rikuto Kotoge , Peng Chen , Yasuko Matsubara , Yasushi Sakurai , Jimeng Sun

Heterogeneity is a fundamental characteristic of cancer. To accommodate heterogeneity, subgroup identification has been extensively studied and broadly categorized into unsupervised and supervised analysis. Compared to unsupervised…

Methodology · Statistics 2026-02-25 Xing Qin , Xu Liu , Shuangge Ma , Mengyun Wu

Feature selection is a combinatorial optimization problem that is NP-hard. Conventional approaches often employ heuristic or greedy strategies, which are prone to premature convergence and may fail to capture subtle yet informative…

Machine Learning · Computer Science 2025-10-22 Yusi Fan , Tian Wang , Zhiying Yan , Chang Liu , Qiong Zhou , Qi Lu , Zhehao Guo , Ziqi Deng , Wenyu Zhu , Ruochi Zhang , Fengfeng Zhou

Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing…

Methodology · Statistics 2019-09-25 Yan Xu , Li Xing , Jessica Su , Xuekui Zhang , Weiliang Qiu

Gene-gene interactions play a crucial role in the manifestation of complex human diseases. Uncovering significant gene-gene interactions is a challenging task. Here, we present an innovative approach utilizing data-driven computational…

Artificial Intelligence · Computer Science 2024-10-22 Yifan Wu , Yuntao Yang , Zirui Liu , Zhao Li , Khushbu Pahwa , Rongbin Li , Wenjin Zheng , Xia Hu , Zhaozhuo Xu

Graph neural networks (GNNs) have shown promise in integrating protein-protein interaction (PPI) networks for identifying cancer genes in recent studies. However, due to the insufficient modeling of the biological information in PPI…

Computational Engineering, Finance, and Science · Computer Science 2025-06-24 Yilong Zang , Lingfei Ren , Yue Li , Zhikang Wang , David Antony Selby , Zheng Wang , Sebastian Josef Vollmer , Hongzhi Yin , Jiangning Song , Junhang Wu

Contrastive analysis (CA) refers to the exploration of variations uniquely enriched in a target dataset as compared to a corresponding background dataset generated from sources of variation that are irrelevant to a given task. For example,…

Machine Learning · Computer Science 2023-10-31 Ethan Weinberger , Ian Covert , Su-In Lee

Linkage disequilibrium score regression (LDSC) has emerged as an essential tool for genetic and genomic analyses of complex traits, utilizing high-dimensional data derived from genome-wide association studies (GWAS). LDSC computes the…

Methodology · Statistics 2025-04-16 Fei Xue , Bingxin Zhao

One way of investigating how genes affect human traits would be with a genome-wide association study (GWAS). Genetic markers, known as single-nucleotide polymorphism (SNP), are used in GWAS. This raises privacy and security concerns as…

Applications · Statistics 2019-08-02 Jun Jie Sim , Fook Mun Chan , Shibin Chen , Benjamin Hong Meng Tan , Khin Mi Mi Aung

Network Intrusion Detection System is a critical means of ensuring cybersecurity. However, existing Genetic Algorithm-based feature selection methods face several limitations when dealing with high-dimensional redundant traffic features.…

Neural and Evolutionary Computing · Computer Science 2026-05-20 Chunzhen Li

Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and…

Applications · Statistics 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

Genetic algorithms are a widely used method in chemometrics for extracting variable subsets with high prediction power. Most fitness measures used by these genetic algorithms are based on the ordinary least-squares fit of the resulting…

Computation · Statistics 2017-11-21 David Kepplinger , Peter Filzmoser , Kurt Varmuza

Biological data including gene expression data are generally high-dimensional and require efficient, generalizable, and scalable machine-learning methods to discover their complex nonlinear patterns. The recent advances in machine learning…

Machine Learning · Computer Science 2020-12-21 Dinesh Singh , Héctor Climente-González , Mathis Petrovich , Eiryo Kawakami , Makoto Yamada