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We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2017-10-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Zero-shot single-cell cell-type annotation aims to determine a cell's type from a given set of expressed genes without any training. Existing knowledge-graph-based RAG approaches retrieve evidence by expanding from source entities and…

Computation and Language · Computer Science 2026-05-08 Zhonghui Zhang , Feng Jiang , Shaowei Qin , Jiahao Zhao , Min Yang

Fluctuations in the measured mRNA levels of unperturbed cells under fixed conditions have often been viewed as an impediment to the extraction of information from expression profiles. Here, we argue that such expression fluctuations should…

Molecular Networks · Quantitative Biology 2007-05-23 William W. Chen , Jeremy L. England , Eugene I. Shakhnovich

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2018-01-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Recent advancements in single-cell genomics necessitate precision in gene panel selection to interpret complex biological data effectively. Those methods aim to streamline the analysis of scRNA-seq data by focusing on the most informative…

Artificial Intelligence · Computer Science 2024-06-12 Weiliang Zhang , Zhen Meng , Dongjie Wang , Min Wu , Kunpeng Liu , Yuanchun Zhou , Meng Xiao

Single-cell RNA-seq provides detailed molecular snapshots of individual cells but is notoriously noisy. Variability stems from biological differences and technical factors, such as amplification bias and limited RNA capture efficiency,…

Machine Learning · Computer Science 2026-02-27 Victor Chardès

Single-cell RNA sequencing (scRNA-seq) has the potential to provide powerful, high-resolution signatures to inform disease prognosis and precision medicine. This paper takes an important first step towards this goal by developing an…

Quantitative Methods · Quantitative Biology 2021-10-15 Bryan He , Matthew Thomson , Meena Subramaniam , Richard Perez , Chun Jimmie Ye , James Zou

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

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

Genomics · Quantitative Biology 2013-03-19 Heng Li

While Graph Neural Networks (GNNs) have been successfully leveraged for learning on graph-structured data across domains, several potential pitfalls have been described recently. Those include the inability to accurately leverage…

Machine Learning · Computer Science 2024-03-21 Lukas Fesser , Melanie Weber

Multimodal single-cell technologies enable the simultaneous collection of diverse data types from individual cells, enhancing our understanding of cellular states. However, the integration of these datatypes and modeling the…

Machine Learning · Computer Science 2023-11-22 Bhavya Mehta , Nirmit Deliwala , Madhav Chandane

Single-cell transcriptomic data approximates the abundance of proteins at a high resolution, but its noisiness necessitates transformation by a pipeline of methods before analysis and inference. In the absence of robust validation of these…

Applications · Statistics 2026-04-13 Toby Kettlewell , Yiyi Cheng , Thomas D. Otto , Vincent Macaulay , Mayetri Gupta

Isoform quantification is an important goal of RNA-seq experiments, yet it remains prob- lematic for genes with low expression or several isoforms. These difficulties may in principle be ameliorated by exploiting correlated experimental…

Genomics · Quantitative Biology 2016-02-23 Yuanhua Huang , Guido Sanguinetti

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

Motivation: Single cell transcriptome sequencing (scRNA-Seq) has become a revolutionary tool to study cellular and molecular processes at single cell resolution. Among existing technologies, the recently developed droplet-based platform…

Machine Learning · Statistics 2017-04-10 Zhe Sun , Ting Wang , Ke Deng , Xiao-Feng Wang , Robert Lafyatis , Ying Ding , Ming Hu , Wei Chen

Single-cell RNA-seq (scRNA-seq) technology is a powerful tool for unraveling the complexity of biological systems. One of essential and fundamental tasks in scRNA-seq data analysis is Cell Type Annotation (CTA). In spite of tremendous…

Genomics · Quantitative Biology 2024-11-04 Chaochen Wu , Meiyun Zuo , Lei Xie

In recent years, functional genomics approaches combining genetic information with bulk RNA-sequencing data have identified the downstream expression effects of disease-associated genetic risk factors through so-called expression…

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

Motivation: Bulk RNA-Seq is a widely used method for studying gene expression across a variety of contexts. The significance of RNA-Seq studies has grown with the advent of high-throughput sequencing technologies. Computational methods have…

Genomics · Quantitative Biology 2025-03-28 Juliana Costa-Silva , David Menotti , Fabricio M. Lopes

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