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Single-cell RNA sequencing (scRNA-seq) data exhibit strong and reproducible statistical structure. This has motivated the development of large-scale foundation models, such as TranscriptFormer, that use transformer-based architectures to…

Genomics · Quantitative Biology 2026-02-19 Huan Souza , Pankaj Mehta

Alternative splicing is crucial in gene regulation, with significant implications in clinical settings and biotechnology. This review article compiles bioinformatics RNA-seq tools for investigating differential splicing; offering a detailed…

Genomics · Quantitative Biology 2024-09-10 Ben J Draper , Mark J Dunning , David C James

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

This paper explores the critical role of data clustering in data science, emphasizing its methodologies, tools, and diverse applications. Traditional techniques, such as partitional and hierarchical clustering, are analyzed alongside…

Artificial Intelligence · Computer Science 2025-10-07 Tai Dinh , Wong Hauchi , Daniil Lisik , Michal Koren , Dat Tran , Philip S. Yu , Joaquín Torres-Sospedra

Single-cell RNA sequencing (scRNA-seq) enables high-resolution analysis of cellular heterogeneity, but its complexity, which is marked by high dimensionality, sparsity, and batch effects, which poses major computational challenges.…

Computation and Language · Computer Science 2026-03-25 Cong Qi , Hanzhang Fang , Siqi Jiang , Xun Song , Tianxing Hu , Wei Zhi

Single-cell gene expression data are often characterized by large matrices, where the number of cells may be lower than the number of genes of interest. Factorization models have emerged as powerful tools to condense the available…

Methodology · Statistics 2023-05-22 Antonio Canale , Luisa Galtarossa , Davide Risso , Lorenzo Schiavon , Giovanni Toto

Identification and quantification of condition-specific transcripts using RNA-Seq is vital in transcriptomics research. While initial efforts using mathematical or statistical modeling of read counts or per-base exonic signal have been…

Quantitative Methods · Quantitative Biology 2013-02-26 Tin Chi Nguyen , Nan Deng , Dongxiao Zhu

Rapidly growing public gene expression databases contain a wealth of data for building an unprecedentedly detailed picture of human biology and disease. This data comes from many diverse measurement platforms that make integrating it all…

Genomics · Quantitative Biology 2014-10-16 Karolis Uziela , Antti Honkela

Sequencing costs currently prohibit the application of single-cell mRNA-seq to many biological and clinical analyses. Targeted single-cell mRNA-sequencing reduces sequencing costs by profiling reduced gene sets that capture biological…

Genomics · Quantitative Biology 2022-02-15 Xiaoqiao Chen , Sisi Chen , Matt Thomson

Developments in transcriptomics techniques have caused a large demand in tailored computational methods for modelling gene expression dynamics from experimental data. Recently, so-called single-cell experiments have revolutionised genetic…

Quantitative Methods · Quantitative Biology 2019-03-18 Atte Aalto , Jorge Goncalves

Accurate cell type annotation across datasets is a key challenge in single-cell analysis. snRNA-seq enables profiling of frozen or difficult-to-dissociate tissues, complementing scRNA-seq by capturing fragile or rare cell types. However,…

Genomics · Quantitative Biology 2026-03-10 Xiran Chen , Quan Zou , Qinyu Cai , Xiaofeng Chen , Weikai Li , Yansu Wang

The use of deep learning models in computational biology has increased massively in recent years, and it is expected to continue with the current advances in the fields such as Natural Language Processing. These models, although able to…

A critical challenge in single-cell RNA sequencing (scRNA-seq) integration is resolving the tension between eliminating batch effects and maintaining biological fidelity. While recent evidence indicates that batch effects manifest…

Machine Learning · Computer Science 2026-05-19 Xichen Yan , Zelin Zang , Changxi Chi , Jingbo Zhou , Chang Yu , Jinlin Wu , Shenghui Cheng , Fuji Yang , Jiebo Luo , Zhen Lei , Stan Z. Li

Single-cell RNA-seq (scRNA-seq) enables atlas-scale profiling of complex tissues, revealing rare lineages and transient states. Yet, assigning biologically valid cell identities remains a bottleneck because markers are tissue- and…

A probabilistic clustering algorithm is proposed for the analysis of forensic DNA mixtures in which individual cells are isolated and short tandem repeats are amplified using the polymerase chain reaction to generate single cell…

Applications · Statistics 2025-10-14 Robert G. Cowell

Single-cell RNA sequencing technologies have revolutionized our understanding of cellular heterogeneity, yet computational methods often struggle to balance performance with biological interpretability. Embedded topic models have been…

Machine Learning · Computer Science 2025-12-08 Hegang Chen , Yuyin Lu , Yifan Zhao , Zhiming Dai , Fu Lee Wang , Qing Li , Yanghui Rao , Yue Li

Gene regulatory network (GRN) refers to the complex network formed by regulatory interactions between genes in living cells. In this paper, we consider inferring GRNs in single cells based on single cell RNA sequencing (scRNA-seq) data. In…

Molecular Networks · Quantitative Biology 2022-05-24 Junjie Tang , Changhu Wang , Feiyi Xiao , Ruibin Xi

High-throughput mRNA sequencing (RNA-Seq) is widely used for transcript quantification of gene isoforms. Since RNA-Seq data alone is often not sufficient to accurately identify the read origins from the isoforms for quantification, we…

Computational Engineering, Finance, and Science · Computer Science 2015-12-31 Wei Zhang , Jae-Woong Chang , Lilong Lin , Kay Minn , Baolin Wu , Jeremy Chien , Jeongsik Yong , Hui Zheng , Rui Kuang

Transcript enumeration methods such as SAGE, MPSS, and sequencing-by-synthesis EST ``digital northern'', are important high-throughput techniques for digital gene expression measurement. As other counting or voting processes, these…

Quantitative Methods · Quantitative Biology 2013-10-29 Ricardo ZN Vêncio , Leonardo Varuzza , Carlos AB Pereira , Helena Brentani , Ilya Shmulevich

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare