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Network models provide a powerful framework for analysing single-cell count data, facilitating the characterisation of cellular identities, disease mechanisms, and developmental trajectories. However, uncertainty modeling in unsupervised…

Genomics · Quantitative Biology 2026-04-27 Shanshan Ren , Thomas E. Bartlett , Lina Gerontogianni , Swati Chandna

Single-cell RNA sequencing (scRNA-seq) technology has profiled hundreds of millions of human cells across organs, diseases, development and perturbations to date. However, the high-dimensional sparsity, batch effect noise, category…

Machine Learning · Computer Science 2025-03-07 Zhen Yu , Jianan Han , Yang Liu , Qingchao Chen

scRNA-seq clustering is a critical task for analyzing single-cell RNA sequencing (scRNA-seq) data, as it groups cells with similar gene expression profiles. Transformers, as powerful foundational models, have been applied to scRNA-seq…

Machine Learning · Computer Science 2026-02-10 Zhuomin Liang , Liang Bai , Xian Yang

Urothelial cell carcinoma (UCC) is the ninth most common cancer that accounts for 4.7% of all the new cancer cases globally. UCC development and progression are due to complex and stochastic genetic programmes. To study the cascades of…

In recent years, advances in high throughput sequencing technology have led to a need for specialized methods for the analysis of digital gene expression data. While gene expression data measured on a microarray take on continuous values…

Applications · Statistics 2012-02-29 Daniela M. Witten

Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling…

Applications · Statistics 2021-12-01 Wei Vivian Li , Anqi Zhao , Shihua Zhang , Jingyi Jessica Li

Unsupervised cell type identification is crucial for uncovering and characterizing heterogeneous populations in single cell omics studies. Although a range of clustering methods have been developed, most focus exclusively on intrinsic…

Artificial Intelligence · Computer Science 2025-12-12 Liang Peng , Haopeng Liu , Yixuan Ye , Cheng Liu , Wenjun Shen , Si Wu , Hau-San Wong

Self-supervised learning (SSL) has proven to be a powerful approach for extracting biologically meaningful representations from single-cell data. To advance our understanding of SSL methods applied to single-cell data, we present…

Quantitative Methods · Quantitative Biology 2025-06-13 Olga Ovcharenko , Florian Barkmann , Philip Toma , Imant Daunhawer , Julia Vogt , Sebastian Schelter , Valentina Boeva

High-throughput sequencing is now regularly used for studies of the transcriptome (RNA-seq), particularly for comparisons among experimental conditions. For the time being, a limited number of biological replicates are typically considered…

Applications · Statistics 2013-06-18 Andrea Rau , Guillemette Marot , Florence Jaffrézic

The identification of disease-gene associations is instrumental in understanding the mechanisms of diseases and developing novel treatments. Besides identifying genes from RNA-Seq datasets, it is often necessary to identify gene clusters…

Genomics · Quantitative Biology 2025-11-14 Jake R. Patock , Rinki Ratnapriya , Arko Barman

Gene expression profiling technologies have been used in various applications such as cancer biology. The development of gene expression profiling has expanded the scope of target discovery in transcriptomic studies, and each technology…

Genomics · Quantitative Biology 2023-01-10 Hyeongseon Jeon , Juan Xie , Yeseul Jeon , Kyeong Joo Jung , Arkobrato Gupta , Won Chang , Dongjun Chung

Single-cell RNA sequencing (scRNA-seq) has transformed our ability to explore biological systems. Nevertheless, proficient expertise is essential for handling and interpreting the data. In this paper, we present scX, an R package built on…

While single-cell RNA sequencing provides an understanding of the transcriptome of individual cells, its high sparsity, often termed dropout, hampers the capture of significant cell-cell relationships. Here, we propose scFP (single-cell…

Computational Engineering, Finance, and Science · Computer Science 2023-07-24 Sukwon Yun , Junseok Lee , Chanyoung Park

One of the major challenges arising from single-cell transcriptomics experiments is the question of how to annotate the associated single-cell transcriptomic profiles. Because of the large size and the high dimensionality of the data,…

Genomics · Quantitative Biology 2024-09-11 Malek Senoussi , Thierry Artières , Paul Villoutreix

This dissertation explores the application of machine learning in molecular biology, focusing on gene expression regulation and cellular behavior at the single-cell level. Using modern neural networks, the research addresses key challenges…

Quantitative Methods · Quantitative Biology 2024-10-01 Yongjian Yang

The rapid development of high-throughput sequencing technologies has led to an explosive increase in biological sequence data, making sequence clustering a fundamental task in large-scale bioinformatics analyses. Unlike traditional…

Genomics · Quantitative Biology 2026-01-22 Simeng Zhang , Xinying Liu , Jun Lou , Mudi Jiang , Quan Zou , Zengyou He

RNA-Seq is rapidly becoming the standard technology for transcriptome analysis. Fundamental to many of the applications of RNA-Seq is the quantification problem, which is the accurate measurement of relative transcript abundances from the…

Genomics · Quantitative Biology 2011-05-16 Lior Pachter

Motivation: With the development of droplet based systems, massive single cell transcriptome data has become available, which enables analysis of cellular and molecular processes at single cell resolution and is instrumental to…

Machine Learning · Computer Science 2018-12-27 Tiehang Duan , José P. Pinto , Xiaohui Xie

Single-cell RNA sequencing (scRNA-seq) determines RNA expression at single-cell resolution. It provides a powerful tool for studying immunity, regulation, and other life activities of cells. However, due to the limitations of the sequencing…

Genomics · Quantitative Biology 2024-02-16 Linfeng Jiang , Yuan Zhu

Single-cell RNA sequencing has transformed biology by enabling the measurement of gene expression at cellular resolution, providing information for cell types, states, and disease contexts. Recently, single-cell foundation models have…

Machine Learning · Computer Science 2025-10-13 Oussama Kharouiche , Aris Markogiannakis , Xiao Fei , Michail Chatzianastasis , Michalis Vazirgiannis