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Related Concept Videos

RNA-seq03:21

RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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Updated: Jan 15, 2026

Three Differential Expression Analysis Methods for RNA Sequencing: limma, EdgeR, DESeq2
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Three Differential Expression Analysis Methods for RNA Sequencing: limma, EdgeR, DESeq2

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Differential detection workflows for multi-sample single-cell RNA-seq data.

Jeroen Gilis1,2, Laura Perin3, Milan Malfait1

  • 1Department of Mathematics, Computer science and Statistics, Ghent University, Krijgslaan 281, Ghent, 9000, Belgium.

BMC Genomics
|October 6, 2025
PubMed
Summary
This summary is machine-generated.

This study introduces differential detection (DD) workflows for single-cell RNA sequencing (scRNA-seq) to analyze gene expression fractions. Joint analysis of DE and DD offers complementary insights for gene discovery and functional interpretation.

Keywords:
benchmarkingpseudobulk aggregationscRNAseq data analysisPresence/Absence

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Area of Science:

  • Computational Biology
  • Genomics
  • Bioinformatics

Background:

  • Single-cell RNA sequencing (scRNA-seq) enables gene expression analysis at a cellular level.
  • Current differential expression (DE) tools focus on average expression, potentially missing other distributional differences.

Purpose of the Study:

  • To develop and evaluate workflows for differential detection (DD) in scRNA-seq data.
  • To create a unified approach for jointly analyzing DE and DD.
  • To assess the complementary information provided by joint DE and DD analyses.

Main Methods:

  • Benchmarking of eight differential detection (DD) strategies.
  • Development of a unified workflow for joint DE and DD analysis.
  • Validation using simulations and two case studies.

Main Results:

  • Differential detection (DD) infers differences in the fraction of cells with detected expression.
  • Joint DE and DD analyses provide complementary information beyond average expression.
  • The unified workflow enhances gene discovery and functional interpretation.

Conclusions:

  • The developed DD workflows offer novel insights into scRNA-seq data.
  • Joint analysis of DE and DD is crucial for a comprehensive understanding of gene expression.
  • This approach improves the interpretation of scRNA-seq experiments.