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Diabetes affects over 400 million people and is among the leading causes of morbidity worldwide. Identification of high-risk individuals can support early diagnosis and prevention of disease development through lifestyle changes. However,…

Machine Learning · Computer Science 2021-04-21 Nikola Dolezalova , Massimo Cairo , Alex Despotovic , Adam T. C. Booth , Angus B. Reed , Davide Morelli , David Plans

Polygenic risk scores can be used to model the individual genetic liability for human traits. Current methods primarily focus on modeling the mean of a phenotype neglecting the variance. However, genetic variants associated with phenotypic…

Applications · Statistics 2025-09-26 Qiong Wu , Hannah Klinkhammer , Kiran Kunwar , Christian Staerk , Carlo Maj , Andreas Mayr

We propose Stepwise cOnditional likelihood variable selection for Discriminant Analysis (SODA) to detect both main and quadratic interaction effects in logistic regression and quadratic discriminant analysis (QDA) models. In the forward…

Methodology · Statistics 2017-05-31 Yang Li , Jun S. Liu

Sequencing-based studies are emerging as a major tool for genetic association studies of complex diseases. These studies pose great challenges to the traditional statistical methods (e.g., single-locus analyses based on regression methods)…

Methodology · Statistics 2025-08-18 Changshuai Wei , Qing Lu

The genetic etiologies of common diseases are highly complex and heterogeneous. Classic statistical methods, such as linear regression, have successfully identified numerous genetic variants associated with complex diseases. Nonetheless,…

Applications · Statistics 2020-10-28 Jinghang Lin , Xiaoran Tong , Chenxi Li , Qing Lu

In this study, we delve into the intricate relationships between diabetes and a range of health indicators, with a particular focus on the newly added variable of income. Utilizing data from the 2015 Behavioral Risk Factor Surveillance…

Machine Learning · Computer Science 2024-04-23 Fariba Jafari Horestani , M. Mehdi Owrang O

Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and…

Methodology · Statistics 2025-08-18 Changshuai Wei , Robert C. Elston , Qing Lu

We consider applying Bayesian Variable Selection Regression, or BVSR, to genome-wide association studies and similar large-scale regression problems. Currently, typical genome-wide association studies measure hundreds of thousands, or…

Applications · Statistics 2011-10-28 Yongtao Guan , Matthew Stephens

Increasing evidence has shown that gene-gene interactions have important effects on biological processes of human diseases. Due to the high dimensionality of genetic measurements, existing interaction analysis methods usually suffer from a…

Methodology · Statistics 2021-01-11 Xing Qin , Shuangge Ma , Mengyun Wu

Genome-wide association studies (GWAS) are used to identify relationships between genetic variations and specific traits. When applied to high-dimensional medical imaging data, a key step is to extract lower-dimensional, yet informative…

Quantitative Methods · Quantitative Biology 2023-09-28 Yaochen Xie , Ziqian Xie , Sheikh Muhammad Saiful Islam , Degui Zhi , Shuiwang Ji

Advancing the discovery of prognostic cancer biomarkers is crucial for comprehending disease mechanisms, refining treatment plans, and improving patient outcomes. This study introduces Weighted Gene Topological Data Analysis (WGTDA), an…

Quantitative Methods · Quantitative Biology 2024-02-15 Ndivhuwo Nyase , Lebohang Mashatola , Aviwe Kohlakala , Kahn Rhrissorrakrai , Stephanie Muller

Epistasis is a phenomenon in which a phenotype outcome is determined by the interaction of genetic variation at two or more loci and it cannot be attributed to the additive combination of effects corresponding to the individual loci.…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-03-03 Christian Ponte-Fernández , Jorge González-Domínguez , María J. Martín

Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships…

Applications · Statistics 2014-08-01 Joshua N. Sampson , Bill Wheeler , Peng Li , Jianxin Shi

Epilepsy is a chronic neurological condition characterized by recurrent seizures, with global prevalence estimated at 50 million people worldwide. While progress in high-throughput sequencing has allowed for broad-based transcriptomic…

Genomics · Quantitative Biology 2025-10-02 Muhammad Omer Latif , Hayat Ullah , Muhammad Ali Shafique , Zhihua Dong

Gene expression prediction plays a vital role in transcriptome-wide association studies (TWAS), which seek to establish associations between tissue gene expression and complex traits. Traditional models rely on genetic variants in close…

Molecular Networks · Quantitative Biology 2024-08-19 Gutama Ibrahim Mohammad , Tom Michoel

We seek to identify genes involved in Parkinson's Disease (PD) by combining information across different experiment types. Each experiment, taken individually, may contain too little information to distinguish some important genes from…

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in…

Machine Learning · Statistics 2017-10-31 Dustin Tran , David M. Blei

Multiple types or views of data (e.g. genetics, proteomics) measured on the same set of individuals are now popularly generated in many biomedical studies. A particular interest might be the detection of sample subgroups (e.g. subtypes of…

Methodology · Statistics 2025-05-09 Kaifeng Yang , Thierry Chekouo , Sandra E. Safo

A critical task in systems biology is the identification of genes that interact to control cellular processes by transcriptional activation of a set of target genes. Many methods have been developed to use statistical correlations in…

Quantitative Methods · Quantitative Biology 2010-11-24 Adam A. Margolin , Kai Wang , Andrea Califano , Ilya Nemenman

Epistasis refers to the phenomenon in which phenotypic consequences caused by mutation of one gene depend on one or more mutations at another gene. Epistasis is critical for understanding many genetic and evolutionary processes, including…

Molecular Networks · Quantitative Biology 2014-11-25 Lin Xu , Brandon Barker , Zhenglong Gu
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