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Understanding how molecular alterations propagate across biological systems to drive disease remains a central challenge. Although high-throughput profiling enables comprehensive characterization of tumor states, most models neglect…

Quantitative Methods · Quantitative Biology 2026-05-11 Kyle Higgins , Guadalupe Gonzalez , Dennis Veselkov , Ivan Laponogov , Kirill Veselkov

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

Real-life medical data is often multimodal and incomplete, fueling the growing need for advanced deep learning models capable of integrating them efficiently. The use of diverse modalities, including histopathology slides, MRI, and genetic…

Artificial Intelligence · Computer Science 2024-10-02 Lucas Robinet , Ahmad Berjaoui , Ziad Kheil , Elizabeth Cohen-Jonathan Moyal

Background: Understanding the relationship between the Omics and the phenotype is a central problem in precision medicine. The high dimensionality of metabolomics data challenges learning algorithms in terms of scalability and…

In the integrative analyses of omics data, it is often of interest to extract data representation from one data type that best reflect its relations with another data type. This task is traditionally fulfilled by linear methods such as…

Applications · Statistics 2021-03-30 Tianwei Yu

Transcriptome-wide association studies based on genetically predicted gene expression have the potential to identify novel regions associated with various complex traits. It has been shown that incorporating expression quantitative trait…

Applications · Statistics 2020-01-24 Aaron J. Molstad , Wei Sun , Li Hsu

Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…

Genomics · Quantitative Biology 2015-09-01 Aziz M. Mezlini , Fabio Fuligni , Adam Shlien , Anna Goldenberg

The integration of multi-modal data, such as pathological images and genomic data, is essential for understanding cancer heterogeneity and complexity for personalized treatments, as well as for enhancing survival predictions. Despite the…

Quantitative Methods · Quantitative Biology 2023-01-09 Lin Qiu , Aminollah Khormali , Kai Liu

Current molecular generative models primarily focus on improving drug-target binding affinity and specificity, often neglecting the system-level phenotypic effects elicited by compounds. Transcriptional profiles, as molecule-level readouts…

Chemical Physics · Physics 2025-09-29 Ran Song , Hui Liu

In this work, we present a quantum circuit model for inferring gene regulatory networks (GRNs). The model is based on the idea of using qubit-qubit entanglement to simulate interactions between genes. We provide preliminary results that…

Emerging Technologies · Computer Science 2022-07-06 Cristhian Roman-Vicharra , James J. Cai

Learning tasks such as those involving genomic data often poses a serious challenge: the number of input features can be orders of magnitude larger than the number of training examples, making it difficult to avoid overfitting, even when…

We utilized abundant transcriptomic data for the primary classes of brain cancers to study the feasibility of separating all of these diseases simultaneously based on molecular data alone. These signatures were based on a new method…

Quantitative Methods · Quantitative Biology 2013-08-05 Jaeyun Sung , Pan-Jun Kim , Shuyi Ma , Cory C. Funk , Andrew T. Magis , Yuliang Wang , Leroy Hood , Donald Geman , Nathan D. Price

Motivation: Predicting gene-disease associations (GDAs) is the problem to determine which gene is associated with a disease. GDA prediction can be framed as a ranking problem where genes are ranked for a query disease, based on features…

Quantitative Methods · Quantitative Biology 2026-02-03 Fernando Zhapa-Camacho , Robert Hoehndorf

Identifying phenotype-associated genes is a common first step in polygenic risk score construction, enrichment testing, target prioritisation and variant interpretation, but relevant evidence is distributed across heterogeneous databases…

Genomics · Quantitative Biology 2026-05-05 Muhammad Muneeb , David B. Ascher

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

Module network inference is an established statistical method to reconstruct co-expression modules and their upstream regulatory programs from integrated multi-omics datasets measuring the activity levels of various cellular components…

Genomics · Quantitative Biology 2015-05-20 Eric Bonnet , Laurence Calzone , Tom Michoel

Genotype-to-phenotype mappings translate genotypic variations such as mutations into phenotypic changes. Neutrality is the observation that some mutations do not lead to phenotypic changes. Studying the search trajectories in genotypic and…

Populations and Evolution · Quantitative Biology 2023-06-26 Ting Hu , Gabriela Ochoa , Wolfgang Banzhaf

Recently, there has been a resurgence of interest in rigorous algorithms for the inference of cancer progression from genomic data. The motivations are manifold: (i) growing NGS and single cell data from cancer patients, (ii) need for novel…

Machine Learning · Computer Science 2016-02-25 Daniele Ramazzotti

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

Molecular Networks · Quantitative Biology 2024-11-01 Marc Subirana-Granés , Jill Hoffman , Haoyu Zhang , Christina Akirtava , Sutanu Nandi , Kevin Fotso , Milton Pividori

Both linear mixed models (LMMs) and sparse regression models are widely used in genetics applications, including, recently, polygenic modeling in genome-wide association studies. These two approaches make very different assumptions, so are…

Quantitative Methods · Quantitative Biology 2012-11-16 Xiang Zhou , Peter Carbonetto , Matthew Stephens