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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

A prespecified set of genes may be enriched, to varying degrees, for genes that have altered expression levels relative to two or more states of a cell. Knowing the enrichment of gene sets defined by functional categories, such as gene…

Synthetic data generation, leveraging generative machine learning techniques, offers a promising approach to mitigating privacy concerns associated with real-world data usage. Synthetic data closely resembles real-world data while…

Machine Learning · Computer Science 2025-08-25 Weijie Niu , Alberto Huertas Celdran , Karoline Siarsky , Burkhard Stiller

Gene expression microarray technologies provide the simultaneous measurements of a large number of genes. Typical analyses of such data focus on the individual genes, but recent work has demonstrated that evaluating changes in expression…

Applications · Statistics 2010-06-29 Babak Shahbaba , Robert Tibshirani , Catherine M. Shachaf , Sylvia K. Plevritis

GeneVis is a web-based tool to visualize complementary data sets of different disciplines within the field of genetics. It overlays gene-cluster information, gene-interaction data and gene-disease association data by means of web-based…

Graphics · Computer Science 2018-05-08 Casper van Leeuwen

Studying facial expressions is a notoriously difficult endeavor. Recent advances in the field of affective computing have yielded impressive progress in automatically detecting facial expressions from pictures and videos. However, much of…

Computer Vision and Pattern Recognition · Computer Science 2023-03-09 Jin Hyun Cheong , Eshin Jolly , Tiankang Xie , Sophie Byrne , Matthew Kenney , Luke J. Chang

Spatial Transcriptomics (ST) provides spatially-resolved gene expression, offering crucial insights into tissue architecture and complex diseases. However, its prohibitive cost limits widespread adoption, leading to significant attention on…

Computer Vision and Pattern Recognition · Computer Science 2026-03-27 Taejin Jeong , Joohyeok Kim , Jinyeong Kim , Chanyoung Kim , Seong Jae Hwang

Summary: The vast generation of genetic data poses a significant challenge in efficiently uncovering valuable knowledge. Introducing GENEVIC, an AI-driven chat framework that tackles this challenge by bridging the gap between genetic data…

Quantitative Methods · Quantitative Biology 2024-04-09 Anindita Nath , Savannah Mwesigwa , Yulin Dai , Xiaoqian Jiang , Zhongming Zhao

Machine- and deep-learning approaches for biological sequences depend critically on transforming raw DNA, RNA, and protein FASTA files into informative numerical representations. However, this process is often fragmented across multiple…

Genomics · Quantitative Biology 2025-12-01 Hamid Ismail , Marwan Bikdash

The Genebass dataset, released by Karczewski et al. (2022), provides a comprehensive resource elucidating associations between genes and 4,529 phenotypes based on nearly 400,000 exomes from the UK Biobank. This extensive dataset enables the…

Genomics · Quantitative Biology 2024-11-21 Pengjun Guo , He Zhu

Given multi-platform genome data with prior knowledge of functional gene sets, how can we extract interpretable latent relationships between patients and genes? More specifically, how can we devise a tensor factorization method which…

Genomics · Quantitative Biology 2018-07-09 Jungwoo Lee , Sejoon Oh , Lee Sael

Gene set analysis, a popular approach for analyzing high-throughput gene expression data, aims to identify sets of related genes that show significantly enriched or depleted expression patterns between different conditions. In the last…

Hierarchical text classification (HTC) and extreme multi-label classification (XML) tasks face compounded challenges from complex label interdependencies, data sparsity, and extreme output dimensions. These challenges are exemplified in the…

Artificial Intelligence · Computer Science 2026-03-04 Lorenzo Molfetta , Alessio Cocchieri , Stefano Fantazzini , Giacomo Frisoni , Luca Ragazzi , Gianluca Moro

This paper presents an open-source Python toolbox called Ensemble Feature Importance (EFI) to provide machine learning (ML) researchers, domain experts, and decision makers with robust and accurate feature importance quantification and more…

Feature selection is a combinatorial optimization problem that is NP-hard. Conventional approaches often employ heuristic or greedy strategies, which are prone to premature convergence and may fail to capture subtle yet informative…

Machine Learning · Computer Science 2025-10-22 Yusi Fan , Tian Wang , Zhiying Yan , Chang Liu , Qiong Zhou , Qi Lu , Zhehao Guo , Ziqi Deng , Wenyu Zhu , Ruochi Zhang , Fengfeng Zhou

Network enrichment analysis is a powerful method, which allows to integrate gene enrichment analysis with the information on relationships between genes that is provided by gene networks. Existing tests for network enrichment analysis deal…

Applications · Statistics 2016-09-20 Mirko Signorelli , Veronica Vinciotti , Ernst C. Wit

The success of the application of machine-learning techniques to compilation tasks can be largely attributed to the recent development and advancement of program characterization, a process that numerically or structurally quantifies a…

Programming Languages · Computer Science 2016-11-01 Pai-Shun Ting , Chun-Chen Tu , Pin-Yu Chen , Ya-Yun Lo , Shin-Ming Cheng

Gene Set Enrichment Analysis (GSEA) and its variations aim to discover collections of genes that show moderate but coordinated differences in expression. However, such techniques may be ineffective if many individual genes in a…

Genomics · Quantitative Biology 2011-01-19 Gang Fang , Michael Steinbach , Chad L. Myers , Vipin Kumar

Contemporary techniques in biology produce readouts for large numbers of genes simultaneously, the typical example being differential gene expression measurements. Moreover, those genes are often richly annotated using GO terms that…

Genomics · Quantitative Biology 2016-02-24 Fran Supek , Nives Škunca

We introduce Genome-Factory, the first integrated Python library for tuning, deploying, and interpreting genomic foundation models. Our core contribution is to simplify and unify the workflow for genomic model development: data collection,…

Genomics · Quantitative Biology 2026-05-18 Weimin Wu , Xuefeng Song , Yibo Wen , Qinjie Lin , Zhihan Zhou , Jerry Yao-Chieh Hu , Zhong Wang , Han Liu
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