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Accurately inferring the root causes of disease from sequencing data can improve the discovery of novel therapeutic targets. However, existing root causal inference algorithms require perfectly measured continuous random variables. Single…

Genomics · Quantitative Biology 2023-07-12 Eric V. Strobl

Comparisons of single-cell RNA sequencing (scRNA-seq) data across species can reveal links between cellular gene expression and the evolution of cell functions, features, and phenotypes. These comparisons invoke evolutionary histories, as…

Populations and Evolution · Quantitative Biology 2023-07-07 Samuel H. Church , Jasmine L. Mah , Casey W. Dunn

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

RNA-Seq is rapidly becoming the standard technology for transcriptome analysis. Fundamental to many of the applications of RNA-Seq is the quantification problem, which is the accurate measurement of relative transcript abundances from the…

Genomics · Quantitative Biology 2011-05-16 Lior Pachter

Single-cell RNA sequencing (scRNA-seq) provides high-dimensional profiles of cellular states, enabling data-driven modeling of cellular dynamics over time. In practice, time-resolved scRNA-seq is collected at only a few discrete time points…

Machine Learning · Computer Science 2026-05-22 Siyu Pu , Qingqing Long , Xiaohan Huang , Haotian Chen , Jiajia Wang , Meng Xiao , Xiao Luo , Hengshu Zhu , Yuanchun Zhou , Xuezhi Wang

High-throughput sequencing is now regularly used for studies of the transcriptome (RNA-seq), particularly for comparisons among experimental conditions. For the time being, a limited number of biological replicates are typically considered…

Applications · Statistics 2013-06-18 Andrea Rau , Guillemette Marot , Florence Jaffrézic

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) has enabled the accurate estimation of gene expression at individual isoform level. However, systematic biases introduced during the sequencing and mapping processes as well as…

Methodology · Statistics 2013-10-02 Hui Jiang , Julia Salzman

Single-cell RNA-seq datasets are growing in size and complexity, enabling the study of cellular composition changes in various biological/clinical contexts. Scalable dimensionality reduction techniques are in need to disentangle biological…

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 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

Single-cell RNA-seq profiles are high-dimensional, sparse, and unordered, causing autoregressive generation to impose an artificial ordering bias and suffer from error accumulation. To address this, we propose scDiVa, a masked discrete…

Machine Learning · Computer Science 2026-02-04 Mingxuan Wang , Cheng Chen , Gaoyang Jiang , Zijia Ren , Chuangxin Zhao , Lu Shi , Yanbiao Ma

Motivation: Assigning RNA-seq reads to their transcript of origin is a fundamental task in transcript expression estimation. Where ambiguities in assignments exist due to transcripts sharing sequence, e.g. alternative isoforms or alleles,…

Quantitative Methods · Quantitative Biology 2015-07-01 James Hensman , Panagiotis Papastamoulis , Peter Glaus , Antti Honkela , Magnus Rattray

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

The cell cycle is one of the most fundamental biological processes important for understanding normal physiology and various pathologies such as cancer. Single cell RNA sequencing technologies give an opportunity to analyse the cell cycle…

Quantitative Methods · Quantitative Biology 2022-08-11 Alexander Chervov , Andrei Zinovyev

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

The ability to measure the transcriptomes of single cells has only been feasible for a few years, and is becoming an extremely popular assay. While many types of analysis and questions can be answered using single cell RNA-sequencing, a…

Genomics · Quantitative Biology 2017-08-09 Valentine Svensson , Roser Vento-Tormo , Sarah A Teichmann

Single-cell RNA sequencing (scRNA-seq) has emerged as a transformative technology, offering unparalleled insights into the intricate landscape of cellular diversity and gene expression dynamics. The analysis of scRNA-seq data poses…

Molecular Networks · Quantitative Biology 2023-12-19 Hongsong Feng , Sean Cottrell , Yuta Hozumi , Guo-Wei Wei

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 RNA sequencing (scRNA-seq) reveals cell heterogeneity, with cell clustering playing a key role in identifying cell types and marker genes. Recent advances, especially graph neural networks (GNNs)-based methods, have…

Genomics · Quantitative Biology 2025-10-03 Ping Xu , Zhiyuan Ning , Pengjiang Li , Wenhao Liu , Pengyang Wang , Jiaxu Cui , Yuanchun Zhou , Pengfei Wang

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
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