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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

Background: Single-cell RNA sequencing (scRNA-seq) is a powerful profiling technique at the single-cell resolution. Appropriate analysis of scRNA-seq data can characterize molecular heterogeneity and shed light into the underlying cellular…

Applications · Statistics 2019-08-05 Siamak Zamani Dadaneh , Paul de Figueiredo , Sing-Hoi Sze , Mingyuan Zhou , Xiaoning Qian

Single-cell RNA sequencing (scRNA-seq) has revolutionized biological discovery, providing an unbiased picture of cellular heterogeneity in tissues. While scRNA-seq has been used extensively to provide insight into both healthy systems and…

Genomics · Quantitative Biology 2020-03-16 Neal G. Ravindra , Arijit Sehanobish , Jenna L. Pappalardo , David A. Hafler , David van Dijk

Single-cell RNA-sequencing (scRNA-seq) stands as a powerful tool for deciphering cellular heterogeneity and exploring gene expression profiles at high resolution. However, its high cost renders it impractical for extensive sample cohorts…

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…

The exploration of cellular heterogeneity within the tumor microenvironment (TME) via single-cell RNA sequencing (scRNA-seq) is essential for understanding cancer progression and response to therapy. Current scRNA-seq approaches, however,…

Genomics · Quantitative Biology 2025-02-06 Yu-An Huang , Yue-Chao Li , Hai-Ru You , Jie Pan , Xiyue Cao , Xinyuan Li , Zhi-An Huang , Zhu-Hong You

Most cellular phenotypes are genetically complex. Identifying the set of genes that are most closely associated with a specific cellular state is still an open question in many cases. Here we study the transcriptional profile of cellular…

Quantitative Methods · Quantitative Biology 2024-06-21 Alda Sabalic , Victoria Moiseeva , Andres Cisneros , Oleg Deryagin , Eusebio Perdiguero , Pura Muñoz-Canoves , Jordi Garcia-Ojalvo

Single-cell RNA sequencing allows the quantification of gene expression at the individual cell level, enabling the study of cellular heterogeneity and gene expression dynamics. Dimensionality reduction is a common preprocessing step…

Computation · Statistics 2025-10-14 Cristian Castiglione , Alexandre Segers , Lieven Clement , Davide Risso

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

Applications of single-cell RNA sequencing in various biomedical research areas have been blooming. This new technology provides unprecedented opportunities to study disease heterogeneity at the cellular level. However, unique…

Genomics · Quantitative Biology 2021-10-26 Xinlei Mi , William Bekerman , Peter A. Sims , Peter D. Canoll , Jianhua Hu

Single-cell sequencing has a significant role to explore biological processes such as embryonic development, cancer evolution, and cell differentiation. These biological properties can be presented by a two-dimensional scatter plot.…

Genomics · Quantitative Biology 2021-10-19 Ziyi Liu , Minghui Liao , Fulin luo , Bo Du

Many methods have been proposed for removing batch effects and aligning single-cell RNA (scRNA) datasets. However, performance is typically evaluated based on multiple parameters and few datasets, creating challenges in assessing which…

Machine Learning · Computer Science 2025-03-27 Juan Javier Diaz-Mejia , Elias Williams , Octavian Focsa , Dylan Mendonca , Swechha Singh , Brendan Innes , Sam Cooper

Numerous tools have been recently developed to predict disease phenotypes using single-cell RNA sequencing (RNA-seq) data. CloudPred is an end-to-end differentiable learning algorithm coupled with a biologically informed mixture model,…

Genomics · Quantitative Biology 2024-02-20 Hossein Moghimianavval , Baharan Meghdadi , Tasmine Clement , Man I Wu

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

Single-cell RNA-seq data allow the quantification of cell type differences across a growing set of biological contexts. However, pinpointing a small subset of genomic features explaining this variability can be ill-defined and…

Machine Learning · Statistics 2022-07-29 Nabeel Sarwar , Wilson Gregory , George A Kevrekidis , Soledad Villar , Bianca Dumitrascu

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

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

By combining various cancer cell line (CCL) drug screening panels, the size of the data has grown significantly to begin understanding how advances in deep learning can advance drug response predictions. In this paper we train >35,000…

Single-cell RNA sequencing (scRNA-seq) enables dissecting cellular heterogeneity in tissues, resulting in numerous biological discoveries. Various computational methods have been devised to delineate cell types by clustering scRNA-seq data…

Quantitative Methods · Quantitative Biology 2023-09-18 Tram Huynh , Zixuan Cang

Graph Neural Networks (GNN) are reshaping our understanding of biomedicine and diseases by revealing the deep connections among genes and cells. As both algorithmic and biomedical technologies have advanced significantly, we're entering a…

Machine Learning · Computer Science 2023-10-17 Konstantinos Lazaros , Dimitris E. Koumadorakis , Panagiotis Vlamos , Aristidis G. Vrahatis