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Advances in data collecting technologies in genomics have significantly increased the need for tools designed to study the genetic basis of many diseases. Effective statistical methods should excel in both prediction accuracy and biomarker…

Methodology · Statistics 2025-11-13 Anthony-Alexander Christidis , Stefan Van Aelst , Ruben Zamar

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association…

Multi-omics studies often rely on pathway enrichment to interpret heterogeneous molecular changes, but pathway enrichment (PE)-based workflows inherit structural limitations of pathway resources, including curation lag, functional…

Computation and Language · Computer Science 2026-01-01 Sibo Wei , Peng Chen , Lifeng Dong , Yin Luo , Lei Wang , Peng Zhang , Wenpeng Lu , Jianbin Guo , Hongjun Yang , Dajun Zeng

Gene expression analysis holds the key to many biomedical discoveries, yet extracting insights from raw transcriptomic data remains formidable due to the complexity of multiple large, semi-structured files and the need for extensive domain…

Artificial Intelligence · Computer Science 2026-05-19 Haoyang Liu , Yijiang Li , Haohan Wang

Gene expression profiling provides critical insights into cellular heterogeneity, biological processes and disease mechanisms. There has been an increasing interest in computational approaches that can predict gene expression directly from…

Computer Vision and Pattern Recognition · Computer Science 2025-04-10 Shi Pan , Jianan Chen , Maria Secrier

Discovery gene-disease links is important in biology and medicine areas, enabling disease identification and drug repurposing. Machine learning approaches accelerate this process by leveraging biological knowledge represented in ontologies…

Machine Learning · Computer Science 2025-04-14 Catarina Canastra , Cátia Pesquita

A two-groups mixed-effects model for the comparison of (normalized) microarray data from two treatment groups is considered. Most competing parametric methods that have appeared in the literature are obtained as special cases or by minor…

Methodology · Statistics 2011-01-06 Haim Bar , James Booth , Elizabeth Schifano , Martin T. Wells

Gene annotation databases (compendiums maintained by the scientific community that describe the biological functions performed by individual genes) are commonly used to evaluate the functional properties of experimentally derived gene sets.…

Quantitative Methods · Quantitative Biology 2013-05-06 Kimberly Glass , Michelle Girvan

Many real-world optimization problems are not naturally homogeneous vectors but composite design objects with heterogeneous parameters: integers, real values, Booleans, categoricals, complex-valued descriptors, and embedding vectors.…

Neural and Evolutionary Computing · Computer Science 2026-05-14 Alex Bogdan

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare

Gene Set Enrichment Analysis (GSEA) is a basic tool for genomic data treatment. From a statistical point of view, the centering of its test statistic does not allow the derivation of asymptotic results. A test statistic with a different…

Probability · Mathematics 2014-10-08 Konstantina Charmpi , Bernard Ycart

Existing machine learning methods for molecular (e.g., gene) embeddings are restricted to specific tasks or data modalities, limiting their effectiveness within narrow domains. As a result, they fail to capture the full breadth of gene…

Understanding disease progression at the molecular pathway level usually requires capturing both structural dependencies between pathways and the temporal dynamics of disease evolution. In this work, we solve the former challenge by…

Machine Learning · Computer Science 2025-02-11 Dai Shi , Kuan Yan , Lequan Lin , Yue Zeng , Ting Zhang , Dmytro Matsypura , Mark C. Gillies , Ling Zhu , Junbin Gao

Predicting phenotypes from gene expression data is a crucial task in biomedical research, enabling insights into disease mechanisms, drug responses, and personalized medicine. Traditional machine learning and deep learning rely on…

Machine Learning · Computer Science 2025-09-18 Kevin Dradjat , Massinissa Hamidi , Pierre Bartet , Blaise Hanczar

The problem addressed here is that of simultaneous treatment of several gene expression datasets, possibly collected under different experimental conditions and/or platforms. Using robust statistics, a large scale statistical analysis has…

Methodology · Statistics 2014-10-10 Bernard Ycart , Konstantina Charmpi , Sophie Rousseaux , Jean-Jacques Fournié

Complex biological processes are usually experimented along time among a collection of individuals. Longitudinal data are then available and the statistical challenge is to better understand the underlying biological mechanisms. The…

Statistics Theory · Mathematics 2015-06-11 Pierre Barbillon , Célia Barthélémy , Adeline Samson

Translating single-cell RNA sequencing (scRNA-seq) data into mechanistic biological hypotheses remains a critical bottleneck, as agentic AI systems lack direct access to transcriptomic representations while expression foundation models…

Genomics · Quantitative Biology 2026-03-18 Omar Coser

Gene expression-based heterogeneity analysis has been extensively conducted. In recent studies, it has been shown that network-based analysis, which takes a system perspective and accommodates the interconnections among genes, can be more…

Methodology · Statistics 2023-08-09 Rong Li , Qingzhao Zhang , Shuangge Ma

Deep learning models with a large number of parameters, often referred to as over-parameterized models, have achieved exceptional performance across various tasks. Despite concerns about overfitting, these models frequently generalize well…

Machine Learning · Computer Science 2025-06-10 Ilya Kaufman Sirot , Omri Azencot

Stochastic Process Model has many applications in analysis of longitudinal biodemographic data. Such data contain various physiological variables (sometimes known as covariates). It also can potentially contain genetic information available…

Populations and Evolution · Quantitative Biology 2016-05-31 Ilya Zhbannikov , Konstantin Arbeev , Anatoliy Yashin