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We introduce a test for the overall effect of interaction between DNA methylation and a set of single nucleotide polymorphisms (SNPs) on a quantitative phenotype. The developed inference procedure is based on a functional approach that…

Methodology · Statistics 2026-01-28 Yvelin Gansou , Karim Oualkacha , Marzia Angela Cremona , Lajmi Lakhal-Chaieb

Identifying disease-indicative genes is critical for deciphering disease mechanisms and has attracted significant interest in biomedical research. Spatial transcriptomics offers unprecedented insights for the detection of disease-specific…

Methodology · Statistics 2024-09-05 Qicheng Zhao , Qihuang Zhang

Combining data from several case-control genome-wide association (GWA) studies can yield greater efficiency for detecting associations of disease with single nucleotide polymorphisms (SNPs) than separate analyses of the component studies.…

Methodology · Statistics 2010-10-26 Ruth M. Pfeiffer , Mitchell H. Gail , David Pee

Biological systems are driven by intricate interactions among the complex array of molecules that comprise the cell. Many methods have been developed to reconstruct network models of those interactions. These methods often draw on large…

Molecular Networks · Quantitative Biology 2018-06-29 Marieke Lydia Kuijjer , Matthew Tung , GuoCheng Yuan , John Quackenbush , Kimberly Glass

Learning features from data is one of the defining characteristics of deep learning, but our theoretical understanding of the role features play in deep learning is still rudimentary. To address this gap, we introduce a new tool, the…

Machine Learning · Computer Science 2023-06-09 Yiding Jiang , Christina Baek , J. Zico Kolter

The identification of predefined groups of genes ("gene-sets") which are differentially expressed between two conditions ("gene-set analysis", or GSA) is a very popular analysis in bioinformatics. GSA incorporates biological knowledge by…

Methodology · Statistics 2013-08-14 Nicolas Städler , Sach Mukherjee

Motivation: Predicting cellular responses to genetic perturbations is essential for understanding biological systems and developing targeted therapeutic strategies. While variational autoencoders (VAEs) have shown promise in modeling…

Machine Learning · Computer Science 2025-02-03 Seungheun Baek , Soyon Park , Yan Ting Chok , Mogan Gim , Jaewoo Kang

Motivated by the important problem of detecting association between genetic markers and binary traits in genome-wide association studies, we present a novel Bayesian model that establishes a hierarchy between markers and genes by defining…

Applications · Statistics 2016-06-22 Ian Johnston , Timothy Hancock , Hiroshi Mamitsuka , Luis Carvalho

Sparse regularized regression methods are now widely used in genome-wide association studies (GWAS) to address the multiple testing burden that limits discovery of potentially important predictors. Linear mixed models (LMMs) have become an…

Methodology · Statistics 2022-06-27 Julien St-Pierre , Karim Oualkacha , Sahir Rai Bhatnagar

Gene-environment and nutrition-environment studies often involve testing of high-dimensional interactions between two sets of variables, each having potentially complex nonlinear main effects on an outcome. Construction of a valid and…

We consider multivariate two-sample tests of means, where the location shift between the two populations is expected to be related to a known graph structure. An important application of such tests is the detection of differentially…

Quantitative Methods · Quantitative Biology 2014-05-16 Laurent Jacob , Pierre Neuvial , Sandrine Dudoit

Recent advances in Spatial Transcriptomics (ST) pair histology images with spatially resolved gene expression profiles, enabling predictions of gene expression across different tissue locations based on image patches. This opens up new…

Computer Vision and Pattern Recognition · Computer Science 2025-03-21 Aniruddha Ganguly , Debolina Chatterjee , Wentao Huang , Jie Zhang , Alisa Yurovsky , Travis Steele Johnson , Chao Chen

Network-based computational approaches to predict unknown genes associated with certain diseases are of considerable significance for uncovering the molecular basis of human diseases. In this paper, we proposed a kind of new…

Molecular Networks · Quantitative Biology 2018-11-14 Ke Hu , Jing-Bo Hu , Ju Xiang , Hui-Jia Li , Yan Zhang , Shi Chen , Chen-He Yi

Genotypic fitness landscapes are constructed by assessing the fitness of all possible combinations of a given number of mutations. In the last years, several experimental fitness landscapes have been completely resolved. As fitness…

Populations and Evolution · Quantitative Biology 2015-07-02 Luca Ferretti , Daniel Weinreich , Benjamin Schmiegelt , Atsushi Yamauchi , Yutaka Kobayashi , Fumio Tajima , Guillaume Achaz

Predicting genetic perturbations enables the identification of potentially crucial genes prior to wet-lab experiments, significantly improving overall experimental efficiency. Since genes are the foundation of cellular life, building gene…

Quantitative Methods · Quantitative Biology 2025-05-09 Changxi Chi , Jun Xia , Jingbo Zhou , Jiabei Cheng , Chang Yu , Stan Z. Li

The idea that structural disorder might be a novel mechanism of protein interaction is widespread in the Literature, although the number of statistically significant structural studies supporting this is surprisingly low. At variance with…

Disordered Systems and Neural Networks · Physics 2021-03-01 Beatriz Seoane , Alessandra Carbone

Predicting protein-protein interactions (PPIs) by learning informative representations from amino acid sequences is a challenging yet important problem in biology. Although various deep learning models in Siamese architecture have been…

Machine Learning · Computer Science 2020-10-19 Kishan KC , Feng Cui , Anne Haake , Rui Li

Transcriptional regulation of gene expression is one of the main processes that affect cell diversification from a single set of genes. Regulatory proteins often interact with DNA regions located distally from the transcription start sites…

Genomics · Quantitative Biology 2014-04-30 Sofie Demeyer , Tom Michoel

Genetic interactions pervade every aspect of biology, from evolutionary theory where they determine the accessibility of evolutionary paths, to medicine where they contribute to complex genetic diseases. Until very recently, studies on…

Genomics · Quantitative Biology 2014-01-20 Andrea Velenich , Jeff Gore

Reconstructing interactions from observational data is a critical need for investigating natural biological networks, wherein network dimensionality (i.e. number of interacting components) is usually high and interactions are time-varying.…

Populations and Evolution · Quantitative Biology 2021-02-09 Chun-Wei Chang , Takeshi Miki , Masayuki Ushio , Hsiao-Pei Lu , Fuh-Kwo Shiah , Chih-hao Hsieh