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Genome data are crucial in modern medicine, offering significant potential for diagnosis and treatment. Thanks to technological advancements, many millions of healthy and diseased genomes have already been sequenced; however, obtaining the…

Genomics · Quantitative Biology 2024-06-18 Teddy Lazebnik , Liron Simon-Keren

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

Cancer is a complex disease driven by genomic alterations, and tumor sequencing is becoming a mainstay of clinical care for cancer patients. The emergence of multi-institution sequencing data presents a powerful resource for learning…

Genomics · Quantitative Biology 2024-10-31 Yuan Chen , Ronglai Shen , Xiwen Feng , Katherine Panageas

Motivation: In this paper we present the latest release of EBIC, a next-generation biclustering algorithm for mining genetic data. The major contribution of this paper is adding support for big data, making it possible to efficiently run…

Genomics · Quantitative Biology 2024-09-05 Patryk Orzechowski , Jason H. Moore

Detecting changepoints in a time series of length $N$ entails evaluating up to $2^{N-1}$ possible changepoint models, making exhaustive enumeration computationally infeasible. Genetic algorithms (GAs) provide a stochastic way to identify…

Computation · Statistics 2025-09-30 Mo Li , QiQi Lu

The increase in high-dimensional multiomics data demands advanced integration models to capture the complexity of human diseases. Graph-based deep learning integration models, despite their promise, struggle with small patient cohorts and…

Machine Learning · Computer Science 2024-08-07 Sina Tabakhi , Charlotte Vandermeulen , Ian Sudbery , Haiping Lu

Integrating multi-omics datasets through data-driven analysis offers a comprehensive understanding of the complex biological processes underlying various diseases, particularly cancer. Graph Neural Networks (GNNs) have recently demonstrated…

Machine Learning · Computer Science 2025-08-11 Jielong Lu , Zhihao Wu , Jiajun Yu , Jiajun Bu , Haishuai Wang

Just as in eukaryotes, high-throughput chromosome conformation capture (Hi-C) data have revealed nested organizations of bacterial chromosomes into overlapping interaction domains. In this chapter, we present a multiscale analysis framework…

Genomics · Quantitative Biology 2020-10-06 Nelle Varoquaux , Virginia S. Lioy , Frédéric Boccard , Ivan Junier

Next-generation sequencing (NGS) is a pivotal technique in genome sequencing due to its high throughput, rapid results, cost-effectiveness, and enhanced accuracy. Its significance extends across various domains, playing a crucial role in…

Genomics · Quantitative Biology 2025-04-28 Fathima Nuzla Ismail , Shanika Amarasoma

Multi-modal learning plays a crucial role in cancer diagnosis and prognosis. Current deep learning based multi-modal approaches are often limited by their abilities to model the complex correlations between genomics and histology data,…

Image and Video Processing · Electrical Eng. & Systems 2024-06-21 Yupei Zhang , Xiaofei Wang , Fangliangzi Meng , Jin Tang , Chao Li

Deep learning techniques have driven significant progress in various analytical tasks within 3D genomics in computational biology. However, a holistic understanding of 3D genomics knowledge remains underexplored. Here, we propose MIX-HIC,…

Machine Learning · Computer Science 2025-10-29 Minghao Yang , Pengteng Li , Yan Liang , Qianyi Cai , Zhihang Zheng , Shichen Zhang , Pengfei Zhang , Zhi-An Huang , Hui Xiong

Genomic data visualization is essential for interpretation and hypothesis generation as well as a valuable aid in communicating discoveries. Visual tools bridge the gap between algorithmic approaches and the cognitive skills of…

Genomics · Quantitative Biology 2019-11-04 Sabrina Nusrat , Theresa Harbig , Nils Gehlenborg

Graphical models are a powerful tool in modelling and analysing complex biological associations in high-dimensional data. The R-package netgwas implements the recent methodological development on copula graphical models to (i) construct…

Applications · Statistics 2023-01-27 Pariya Behrouzi , Danny Arends , Ernst C. Wit

Recent studies demonstrate that effective healthcare can benefit from using the human genomic information. For instance, analysis of tumor genomes has revealed 140 genes whose mutations contribute to cancer. As a result, many institutions…

Cryptography and Security · Computer Science 2017-03-09 Md Nazmus Sadat , Md Momin Al Aziz , Noman Mohammed , Feng Chen , Shuang Wang , Xiaoqian Jiang

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

Integration of transcriptomic and metabolomic data improves functional interpretation of disease-related metabolomic phenotypes, and facilitates discovery of putative metabolite biomarkers and gene targets. For this reason, these data are…

We present a minimal computational model, which allows very fast, on-the-fly construction of three dimensional haploid interphase genomes from single cell Hi-C contact maps using the HOOMD-blue molecular dynamics package on graphics…

Soft Condensed Matter · Physics 2019-11-14 S. Wettermann , M. Brems , J. T. Siebert , G. T. Vu , T. J. Stevens , P. Virnau

How to represent the genetic code? Despite the fact that it is extensively known, the DNA mapping into proteins remains as one of the relevant discoveries of genetics. However, modern genomic signal processing usually requires converting…

Other Quantitative Biology · Quantitative Biology 2015-03-10 H. M. de Oliveira , N. S. Santos-Magalhaes

Recent advances in biological research have seen the emergence of high-throughput technologies with numerous applications that allow the study of biological mechanisms at an unprecedented depth and scale. A large amount of genomic data is…

Machine Learning · Statistics 2020-05-11 Nanwei Wang , Laurent Briollais , Helene Massam

This paper presents the R package gRapHD for efficient selection of high-dimensional undirected graphical models. The package provides tools for selecting trees, forests and decomposable models minimizing information criteria such as AIC or…

Machine Learning · Statistics 2019-09-24 Gabriel C. G. de Abreu , Rodrigo Labouriau , David Edwards