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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

Foundation models for single-cell RNA sequencing (scRNA-seq) have shown promising capabilities in capturing gene expression patterns. However, current approaches face critical limitations: they ignore biological prior knowledge encoded in…

Machine Learning · Computer Science 2025-03-04 Mufan Qiu , Xinyu Hu , Fengwei Zhan , Sukwon Yun , Jie Peng , Ruichen Zhang , Bhavya Kailkhura , Jiekun Yang , Tianlong Chen

Cardiac biosignals, such as electrocardiograms (ECG) and photoplethysmograms (PPG), are of paramount importance for the diagnosis, prevention, and management of cardiovascular diseases, and have been extensively used in a variety of…

While pathology foundation models have transformed cancer image analysis, they often lack integration with molecular data at single-cell resolution, limiting their utility for precision oncology. Here, we present PAST, a pan-cancer…

Quantitative Methods · Quantitative Biology 2025-07-10 Changchun Yang , Haoyang Li , Yushuai Wu , Yilan Zhang , Yifeng Jiao , Yu Zhang , Rihan Huang , Yuan Cheng , Yuan Qi , Xin Guo , Xin Gao

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

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

Healthcare data now span EHRs, medical imaging, genomics, and wearable sensors, but most diagnostic models still process these modalities in isolation. This limits their ability to capture early, cross-modal disease signatures. This paper…

Machine Learning · Computer Science 2025-12-18 Md Talha Mohsin , Ismail Abdulrashid

Foundation models like the Segment Anything Model (SAM) excel in zero-shot segmentation for natural images but struggle with medical image segmentation due to differences in texture, contrast, and noise. Annotating medical images is costly…

Image and Video Processing · Electrical Eng. & Systems 2025-04-14 Sourya Sengupta , Satrajit Chakrabarty , Keerthi Sravan Ravi , Gopal Avinash , Ravi Soni

Influenced by breakthroughs in LLMs, single-cell foundation models are emerging. While these models show successful performance in cell type clustering, phenotype classification, and gene perturbation response prediction, it remains to be…

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

Chromosome classification is an important but difficult and tedious task in karyotyping. Previous methods only classify manually segmented single chromosome, which is far from clinical practice. In this work, we propose a detection based…

Computer Vision and Pattern Recognition · Computer Science 2021-08-18 Chunlong Luo , Tianqi Yu , Yufan Luo , Manqing Wang , Fuhai Yu , Yinhao Li , Chan Tian , Jie Qiao , Li Xiao

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

The development of single-cell and spatial transcriptomics has revolutionized our capacity to investigate cellular properties, functions, and interactions in both cellular and spatial contexts. However, the analysis of single-cell and…

Genomics · Quantitative Biology 2024-12-09 Shuang Ge , Shuqing Sun , Huan Xu , Qiang Cheng , Zhixiang Ren

Predicting transcriptional responses to novel drugs provides a unique opportunity to accelerate biomedical research and advance drug discovery efforts. However, the inherent complexity and high dimensionality of cellular responses, combined…

The remarkable success of foundation models has sparked growing interest in their application to single-cell biology. Models like Geneformer and scGPT promise to serve as versatile tools in this specialized field. However, representing a…

Quantitative Methods · Quantitative Biology 2024-11-12 Jiabei Cheng , Jiachen Li , Kaiyuan Yang , Hongbin Shen , Ye Yuan

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

The single-cell RNA sequencing (scRNA-seq) technology enables researchers to study complex biological systems and diseases with high resolution. The central challenge is synthesizing enough scRNA-seq samples; insufficient samples can impede…

Genomics · Quantitative Biology 2023-12-25 Yixuan Wang , Shuangyin Li , Shimin DI , Lei Chen

Transcriptomic foundation models pretrained with masked language modeling can achieve low pretraining loss yet produce poor cell representations for downstream tasks. We introduce whole-cell expression decoding (WCED), where models…

We present a systematic evaluation framework - thirty-seven analyses, 153 statistical tests, four cell types, two perturbation modalities - for assessing mechanistic interpretability in single-cell foundation models. Applying this framework…

Genomics · Quantitative Biology 2026-02-20 Ihor Kendiukhov

Single-cell RNA sequencing (scRNA-seq) and spatially-resolved imaging/sequencing technologies have revolutionized biomedical research. On one hand, scRNA-seq provides information about a large portion of the transcriptome for individual…

Computational Engineering, Finance, and Science · Computer Science 2026-03-24 Arezou Rahimi , Luis A. Vale-Silva , Maria Faelth Savitski , Jovan Tanevski , Julio Saez-Rodriguez