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We present a nonparametric Bayesian method for disease subtype discovery in multi-dimensional cancer data. Our method can simultaneously analyse a wide range of data types, allowing for both agreement and disagreement between their…

Genomics · Quantitative Biology 2013-04-16 Richard S. Savage , Zoubin Ghahramani , Jim E. Griffin , Paul Kirk , David L. Wild

Popular online enrichment analysis tools from the field of molecular systems biology provide users with the ability to submit their experimental results as gene sets for individual analysis. Such queries are kept private, and have never…

Molecular Networks · Quantitative Biology 2016-01-08 Avi Ma'ayan , Neil R. Clark

Genome-scale metabolic models (GEMs) are essential tools for systems biology and rational chassis design, but conventional top-down reconstruction depends heavily on sequence homology and often leaves unknown enzymes and metabolic dark…

Quantitative Methods · Quantitative Biology 2026-05-15 Weiyu Xiao , Jiangbin Zheng , Stan Z. Li

Previously we have developed the concept of the dynamic pathosome, which suggests that individual patterns of phenotype development, i.e., phenotypic trajectories, contain more information than is commonly appreciated and that a phenotype's…

Quantitative Methods · Quantitative Biology 2021-03-25 Peter Lenart , Daniela Kuruczova , Lubomir Kukla , Martin Scheringer , Julie Bienertova Vasku

Understanding disease similarity is critical for advancing diagnostics, drug discovery, and personalized treatment strategies. We present PhenoGnet, a novel graph-based contrastive learning framework designed to predict disease similarity…

Genomics · Quantitative Biology 2025-09-18 Ranga Baminiwatte , Kazi Jewel Rana , Aaron J. Masino

The recent adoption of Electronic Health Records (EHRs) by health care providers has introduced an important source of data that provides detailed and highly specific insights into patient phenotypes over large cohorts. These datasets, in…

Despite the wealth of single-cell multi-omics data, it remains challenging to predict the consequences of novel genetic and chemical perturbations in the human body. It requires knowledge of molecular interactions at all biological levels,…

Artificial Intelligence · Computer Science 2025-01-22 You Wu , Lei Xie

Affordable, high-quality whole-genome assemblies have made it possible to construct rich pangenomes that capture haplotype diversity across many species. As these datasets grow, they motivate the development of specialized techniques…

Genomics · Quantitative Biology 2025-12-19 Gorkem Kadir Solun , Ugur Dogrusoz

Motivation: Prediction of phenotypes from high-dimensional data is a crucial task in precision biology and medicine. Many technologies employ genomic biomarkers to characterize phenotypes. However, such elements are not sufficient to…

Molecular Networks · Quantitative Biology 2016-09-16 Salvatore Alaimo , Rosalba Giugno , Mario Acunzo , Dario Veneziano , Alfredo Ferro , Alfredo Pulvirenti

A variety of genome-wide profiling techniques are available to probe complementary aspects of genome structure and function. Integrative analysis of heterogeneous data sources can reveal higher-level interactions that cannot be detected…

Computational Engineering, Finance, and Science · Computer Science 2012-03-23 Leo Lahti , Martin Schäfer , Hans-Ulrich Klein , Silvio Bicciato , Martin Dugas

Liquid chromatography with tandem mass spectrometry (LC-MS/MS) based proteomics is a well-established research field with major applications such as identification of disease biomarkers, drug discovery, drug design and development. In…

Quantitative Methods · Quantitative Biology 2018-01-08 Fatema Tuz Zohora , Ngoc Hieu Tran , Xianglilan Zhang , Lei Xin , Baozhen Shan , Ming Li

The task of data integration for multi-omics data has emerged as a powerful strategy to unravel the complex biological underpinnings of cancer. Recent advancements in graph neural networks (GNNs) offer an effective framework to model…

Machine Learning · Computer Science 2025-06-24 Payam Zohari , Mostafa Haghir Chehreghani

Background: Predictive, stable and interpretable gene signatures are generally seen as an important step towards a better personalized medicine. During the last decade various methods have been proposed for that purpose. However, one…

Genomics · Quantitative Biology 2013-05-28 Yupeng Cun , Holger Fröhlich

We propose a method for gene expression based analysis of cancer phenotypes incorporating network biology knowledge through unsupervised construction of computational graphs. The structural construction of the computational graphs is driven…

Molecular Networks · Quantitative Biology 2020-10-02 Paul Scherer , Maja Trȩbacz , Nikola Simidjievski , Zohreh Shams , Helena Andres Terre , Pietro Liò , Mateja Jamnik

It is more and more common to explore the genome at diverse levels and not only at a single omic level. Through integrative statistical methods, omics data have the power to reveal new biological processes, potential biomarkers, and…

Methodology · Statistics 2021-03-05 Morgane Pierre-Jean , Florence Mauger , Jean-François Deleuze , Edith Le Floch

Genetic interaction measures how different genes collectively contribute to a phenotype, and can reveal functional compensation and buffering between pathways under genetic perturbations. Recently, genome-wide screening for genetic…

Molecular Networks · Quantitative Biology 2015-03-17 Gang Fang , Wen Wang , Vanja Paunic , Benjamin Oately , Majda Haznadar , Michael Steinbach , Brian Van Ness , Chad L. Myers , Vipin Kumar

Identifying subtle phenotypic variations in cellular images is critical for advancing biological research and accelerating drug discovery. These variations are often masked by the inherent cellular heterogeneity, making it challenging to…

Computer Vision and Pattern Recognition · Computer Science 2026-01-28 Anis Bourou , Biel Castaño Segade , Thomas Boyer , Valérie Mezger , Auguste Genovesio

Summary: Linear mixed models are a commonly used statistical approach in genome-wide association studies when population structure is present. However, naive permutations to empirically estimate the null distribution of a statistic of…

Genomics · Quantitative Biology 2024-10-03 Saul Pierotti , Tomas Fitzgerald , Ewan Birney

Motivation: Unraveling the connection between genes and traits is crucial for solving many biological puzzles. Genes provide instructions for building cellular machinery, directing the processes that sustain life. RNA molecules and…

Quantitative Methods · Quantitative Biology 2024-02-14 Santiago Prochetto , Renata Reinheimer , Georgina Stegmayer

Cancer exhibits diverse and complex phenotypes driven by multifaceted molecular interactions. Recent biomedical research has emphasized the comprehensive study of such diseases by integrating multi-omics datasets (genome, proteome,…

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