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Single-cell RNA sequencing (scRNA-seq) technology provides high-throughput gene expression data to study the cellular heterogeneity and dynamics of complex organisms. Graph neural networks (GNNs) have been widely used for automatic cell…

Machine Learning · Computer Science 2023-12-19 Rui Yang , Wenrui Dai , Chenglin Li , Junni Zou , Dapeng Wu , Hongkai Xiong

Motivation: As cancer researchers have come to appreciate the importance of intratumor heterogeneity, much attention has focused on the challenges of accurately profiling heterogeneity in individual patients. Experimental technologies for…

Genomics · Quantitative Biology 2018-02-07 Theodore Roman , Lu Xie , Russell Schwartz

Single-cell RNA sequencing (scRNA-seq) enables single-cell transcriptomic profiling, revealing cellular heterogeneity and rare populations. Recent deep learning models like Geneformer and Mouse-Geneformer perform well on tasks such as…

Genomics · Quantitative Biology 2025-07-11 Yuki Nishio , Takayoshi Yamashita , Keita Ito , Tsubasa Hirakawa , Hironobu Fujiyoshi

RNA-Seq technology allows for studying the transcriptional state of the cell at an unprecedented level of detail. Beyond quantification of whole-gene expression, it is now possible to disentangle the abundance of individual alternatively…

Genomics · Quantitative Biology 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

Rapid advancements in high-throughput single-cell RNA-seq (scRNA-seq) technologies and experimental protocols have led to the generation of vast amounts of genomic data that populates several online databases and repositories. Here, we…

Genomics · Quantitative Biology 2024-04-17 Mahnoor N. Gondal , Saad Ur Rehman Shah , Arul M. Chinnaiyan , Marcin Cieslik

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

Cell clustering is crucial for uncovering cellular heterogeneity in single-cell RNA sequencing (scRNA-seq) data by identifying cell types and marker genes. Despite its importance, benchmarks for scRNA-seq clustering methods remain…

Genomics · Quantitative Biology 2025-12-03 Ping Xu , Zaitian Wang , Zhirui Wang , Pengjiang Li , Jiajia Wang , Ran Zhang , Pengfei Wang , Yuanchun Zhou

Single-cell RNA sequencing (scRNA-seq) is powerful technology that allows researchers to understand gene expression patterns at the single-cell level. However, analysing scRNA-seq data is challenging due to issues and biases in data…

Genomics · Quantitative Biology 2023-12-14 Jinlu Liu , Sara Wade , Natalia Bochkina

Many modern biological assays, including RNA sequencing, yield integer-valued counts that reflect the number of molecules detected. These measurements are often not at the desired resolution: while the unit of interest is typically a single…

Machine Learning · Computer Science 2026-03-06 Nic Fishman , Gokul Gowri , Tanush Kumar , Jiaqi Lu , Valentin de Bortoli , Jonathan S. Gootenberg , Omar Abudayyeh

Tumor is heterogeneous - a tumor sample usually consists of a set of subclones with distinct transcriptional profiles and potentially different degrees of aggressiveness and responses to drugs. Understanding tumor heterogeneity is therefore…

Applications · Statistics 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu

Single-cell RNA sequencing (scRNA-seq) provides unprecedented insights into cellular heterogeneity, enabling detailed analysis of complex biological systems at single-cell resolution. However, the high dimensionality and technical noise…

Genomics · Quantitative Biology 2025-09-04 Hojjat Torabi Goudarzi , Maziyar Baran Pouyan

Biological sequence analysis relies on the ability to denoise the imprecise output of sequencing platforms. We consider a common setting where a short sequence is read out repeatedly using a high-throughput long-read platform to generate…

Genomics · Quantitative Biology 2023-09-06 Nathan Ng , Ji Won Park , Jae Hyeon Lee , Ryan Lewis Kelly , Stephen Ra , Kyunghyun Cho

Single-cell RNA sequencing (scRNAseq) is rapidly advancing our understanding of cellular composition within complex tissues and organisms. A major limitation in most scRNAseq analysis pipelines is the reliance on manual annotations to…

Genomics · Quantitative Biology 2022-06-10 A. Ali Heydari , Oscar A. Davalos , Katrina K. Hoyer , Suzanne S. Sindi

Recently, ultra high-throughput sequencing of RNA (RNA-Seq) has been developed as an approach for analysis of gene expression. By obtaining tens or even hundreds of millions of reads of transcribed sequences, an RNA-Seq experiment can offer…

Methodology · Statistics 2011-06-17 Julia Salzman , Hui Jiang , Wing Hung Wong

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

As single-cell RNA sequencing datasets grow in adoption, scale, and complexity, data analysis remains a bottleneck for many research groups. Although frontier AI agents have improved dramatically at software engineering and general data…

Genomics · Quantitative Biology 2026-02-11 Kenny Workman , Zhen Yang , Harihara Muralidharan , Aidan Abdulali , Hannah Le

Background: Since the invention of next-generation RNA sequencing (RNA-seq) technologies, they have become a powerful tool to study the presence and quantity of RNA molecules in biological samples and have revolutionized transcriptomic…

Genomics · Quantitative Biology 2021-12-01 Wei Vivian Li , Jingyi Jessica Li

Advances in high-throughput sequencing technology have led to significant progress in measuring gene expressions at the single-cell level. The amount of publicly available single-cell RNA-seq (scRNA-seq) data is already surpassing 50M…

Machine Learning · Computer Science 2024-02-27 Jing Gong , Minsheng Hao , Xingyi Cheng , Xin Zeng , Chiming Liu , Jianzhu Ma , Xuegong Zhang , Taifeng Wang , Le Song

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

Predicting phenotypes from gene expression data is a crucial task in biomedical research, enabling insights into disease mechanisms, drug responses, and personalized medicine. Traditional machine learning and deep learning rely on…

Machine Learning · Computer Science 2025-09-18 Kevin Dradjat , Massinissa Hamidi , Pierre Bartet , Blaise Hanczar