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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 (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

Rapidly growing public gene expression databases contain a wealth of data for building an unprecedentedly detailed picture of human biology and disease. This data comes from many diverse measurement platforms that make integrating it all…

Genomics · Quantitative Biology 2014-10-16 Karolis Uziela , Antti Honkela

The development of novel high-throughput sequencing (HTS) methods for RNA (RNA-Seq) has provided a very powerful mean to study splicing under multiple conditions at unprecedented depth. However, the complexity of the information to be…

Genomics · Quantitative Biology 2015-08-03 Gael P. Alamancos , Eneritz Agirre , Eduardo Eyras

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

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

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

Motivation: Single-cell RNA sequencing (scRNA-seq) is a groundbreaking technology extensively utilized in biological research, facilitating the examination of gene expression at the individual cell level within a given tissue sample. While…

Machine Learning · Computer Science 2024-04-10 Shengze Dong , Zhuorui Cui , Ding Liu , Jinzhi Lei

Single-cell RNA-seq data are challenging because of the sparseness of the read counts, the tiny expression of many relevant genes, and the variability in the efficiency of RNA extraction for different cells. We consider a simple…

Methodology · Statistics 2020-02-10 Silvia Giulia Galfre' , Francesco Morandin

In the analysis of single-cell RNA sequencing data, researchers often characterize the variation between cells by estimating a latent variable, such as cell type or pseudotime, representing some aspect of the individual cell's state. They…

Methodology · Statistics 2022-10-19 Anna Neufeld , Lucy L. Gao , Joshua Popp , Alexis Battle , Daniela Witten

Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of cellular heterogeneity, enabling detailed molecular profiling at the individual cell level. However, integrating high-dimensional single-cell data into causal mediation…

Methodology · Statistics 2025-10-01 Seungjun Ahn , Li Chen , Maaike van Gerwen , Panos Roussos , Zhigang Li

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) is a widely used method for quantifying gene expression levels due to its low cost, high accuracy and wide dynamic range for detection. However, the nature of RNA-Seq makes it…

Methodology · Statistics 2016-08-30 Hui Jiang , Tianyu Zhan

Recent advances in high-resolution sequencing have paved the way for population-scale analysis in single-cell RNA-sequencing (scRNA-seq) data. scRNA-seq data, in particular, have proven to be extremely powerful in profiling a variety of…

Methodology · Statistics 2025-10-30 Hanxuan Ye , Zachary Qian , Hongzhe Li

RNA-Seq is a widely-used method for studying the behavior of genes under different biological conditions. An essential step in an RNA-Seq study is normalization, in which raw data are adjusted to account for factors that prevent direct…

Genomics · Quantitative Biology 2016-09-06 Ciaran Evans , Johanna Hardin , Daniel Stoebel

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

Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling…

Applications · Statistics 2021-12-01 Wei Vivian Li , Anqi Zhao , Shihua Zhang , Jingyi Jessica Li

The RNA-sequencing (RNA-seq) is becoming increasingly popular for quantifying gene expression levels. Since the RNA-seq measurements are relative in nature, between-sample normalization of counts is an essential step in differential…

Methodology · Statistics 2016-10-14 Kefei Liu , Jieping Ye , Yang Yang , Li Shen , Hui Jiang

Single-cell RNA sequencing (scRNA-seq) is a relatively new technology that has stimulated enormous interest in statistics, data science, and computational biology due to the high dimensionality, complexity, and large scale associated with…

Machine Learning · Statistics 2023-10-25 Yuta Hozumi , Guo-Wei Wei

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

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