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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

Bioinformatics tools have been developed to interpret gene expression data at the gene set level, and these gene set based analyses improve the biologists' capability to discover functional relevance of their experiment design. While…

Machine Learning · Statistics 2019-01-01 Hung-I Harry Chen , Yu-Chiao Chiu , Tinghe Zhang , Songyao Zhang , Yufei Huang , Yidong Chen

Cell state discovery is crucial for understanding biological systems and enhancing medical outcomes. A key aspect of this process is identifying distinct biomarkers that define specific cell states. However, difficulties arise from the…

Human-Computer Interaction · Computer Science 2025-12-19 Rui Sheng , Zelin Zang , Jiachen Wang , Yan Luo , Zixin Chen , Yan Zhou , Shaolun Ruan , Huamin Qu

In this paper, we explore the challenges associated with biomarker identification for diagnosis purpose in biomedical experiments, and propose a novel approach to handle the above challenging scenario via the generalization of the Dantzig…

Methodology · Statistics 2023-11-14 Jing-Wen Huang , Yan-Hong Chen , Frederick Kin Hing Phoa , Yan-Han Lin , Shau-Ping Lin

We propose a novel deep neural network architecture to integrate imaging and genetics data, as guided by diagnosis, that provides interpretable biomarkers. Our model consists of an encoder, a decoder and a classifier. The encoder learns a…

Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Genomics · Quantitative Biology 2025-05-07 Frederikke I. Marin , Dennis Pultz , Wouter Boomsma

Machine learning holds tremendous promise for transforming the fundamental practice of scientific discovery by virtue of its data-driven nature. With the ever-increasing stream of research data collection, it would be appealing to…

Machine Learning · Computer Science 2024-03-06 Jianan Fan , Dongnan Liu , Hang Chang , Heng Huang , Mei Chen , Weidong Cai

In biomedical imaging, deep learning-based methods are state-of-the-art for every modality (virtual slides, MRI, etc.) In histopathology, these methods can be used to detect certain biomarkers or classify lesions. However, such techniques…

Computer Vision and Pattern Recognition · Computer Science 2023-03-10 Adrien Nivaggioli , Nicolas Pozin , Rémy Peyret , Stéphane Sockeel , Marie Sockeel , Nicolas Nerrienet , Marceau Clavel , Clara Simmat , Catherine Miquel

Large vision models based in deep learning architectures have been consistently advancing the state-of-the-art in biometric recognition. However, three weaknesses are commonly reported for such kind of approaches: 1) their extreme demands…

Computer Vision and Pattern Recognition · Computer Science 2024-06-27 Henrique Jesus , Hugo Proença

Generative AI has demonstrated significant potential in creative design, enabling the rapid generation of visual content and imaginative concepts. Although deep AI models achieve effective featurization in the latent space, navigating the…

Human-Computer Interaction · Computer Science 2026-04-23 Mingwei Li , Suyang Li , Daisuke Sakurai , Bei Wang , Remco Chang

Generative AI foundation models offer transformative potential for processing structured biological data, particularly in single-cell RNA sequencing, where datasets are rapidly scaling toward billions of cells. We propose the use of agentic…

Genomics · Quantitative Biology 2025-06-18 Saleem A. Al Dajani , Abel Sanchez , John R. Williams

Transcriptional profiling on microarrays to obtain gene expressions has been used to facilitate cancer diagnosis. We propose a deep generative machine learning architecture (called DeepCancer) that learn features from unlabeled microarray…

Artificial Intelligence · Computer Science 2016-12-14 Rajendra Rana Bhat , Vivek Viswanath , Xiaolin Li

In vitro cellular experimentation with genetic interventions, using for example CRISPR technologies, is an essential step in early-stage drug discovery and target validation that serves to assess initial hypotheses about causal associations…

Machine Learning · Computer Science 2021-10-25 Arash Mehrjou , Ashkan Soleymani , Andrew Jesson , Pascal Notin , Yarin Gal , Stefan Bauer , Patrick Schwab

BACKGROUND: Breast cancer has emerged as one of the most prevalent cancers among women leading to a high mortality rate. Due to the heterogeneous nature of breast cancer, there is a need to identify differentially expressed genes associated…

Machine Learning · Computer Science 2021-11-30 Sheetal Rajpal , Ankit Rajpal , Manoj Agarwal , Naveen Kumar

Recent advances in generative AI have brought incredible breakthroughs in several areas, including medical imaging. These generative models have tremendous potential not only to help safely share medical data via synthetic datasets but also…

The generation of molecules with Artificial Intelligence (AI) is poised to revolutionize materials discovery. Potential applications range from development of potent drugs to efficient carbon capture and separation technologies. However,…

A common goal in modern biostatistics is to form a biomarker signature from high dimensional gene expression data that is predictive of some outcome of interest. After learning this biomarker signature, an important question to answer is…

Statistics Theory · Mathematics 2015-10-05 Samuel M. Gross , Jonathan Taylor , Robert Tibshirani

The discovery of patient-specific imaging markers that are predictive of future disease outcomes can help us better understand individual-level heterogeneity of disease evolution. In fact, deep learning models that can provide data-driven…

Computer Vision and Pattern Recognition · Computer Science 2022-08-05 Amar Kumar , Anjun Hu , Brennan Nichyporuk , Jean-Pierre R. Falet , Douglas L. Arnold , Sotirios Tsaftaris , Tal Arbel

Many problems within personalized medicine and digital health rely on the analysis of continuous-time functional biomarkers and other complex data structures emerging from high-resolution patient monitoring. In this context, this work…

Machine Learning · Statistics 2025-01-14 Marcos Matabuena

Biomarker subpopulations have become increasingly important for drug development in targeted therapies. The use of biomarkers has the potential to facilitate more effective outcomes by guiding patient selection appropriately, thus enhancing…

Methodology · Statistics 2020-08-07 Ting-Yu Chen , Jing Zhao , Linda Sun , Keaven Anderson