Skip to content
EvidenceHelixEvidenceLib · Scientific Encyclopedia
⌘ K

Scientific library

EvidenceLib encyclopediaAll articles A–Z2,100Open textbooks2Cancer study catalog458How it is made

My workspace this browser

Saved pages0Notes & annotations0

Recently viewed

Explore by field

Cancer and Oncology107Genetics and Genomics95Neuroscience110Cardiovascular Medicine105Immunology90Pharmacology99Molecular Biology100Infectious Diseases102Rare and Inherited Diseases106Clinical Research98Anatomy and Physiology542Drugs and Chemicals546
Plans & pricingCompare EvidenceHelix workspace plans
Library›EvidenceLib›Genetics and Genomics›RNA-Seq
Explore more with EvidenceHelix Workspace

Compare studies, analyze evidence and create research reports with premium tools.

Explore Researcher plans

Research reading room

RNA-Seq

Genetics and Genomics · NLM MeSH · updated 2026-10-29 · version 1

Citations verified against PubMedNot yet clinician-reviewed10 referencesApproximately 5 min read

High-throughput nucleotide sequencing techniques developed for determining and analyzing the composition of the transcriptome of a sample.

Table of Contents

1. Definition2. Research landscape3. Reading the evidence4. Open-access studies5. Key reviews6. References7. About this article

Definition and research guide

This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.

Content available: 4 complete abstracts (889 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.

Definition

High-throughput nucleotide sequencing techniques developed for determining and analyzing the composition of the transcriptome of a sample.

Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.

Also known as: Whole Transcriptome Shotgun Sequencing.

Where it fits in the MeSH classification

Broader topics
Gene Expression Profiling; High-Throughput Nucleotide Sequencing; Sequence Analysis, RNA

Related concepts

  • Transcriptome

Research landscape

PubMed indexes 8,514 records tagged with the MeSH heading “RNA-Seq” (counts retrieved 2026-10-29). 7,794 of them (91.5%) were published from 2020 onward, and the busiest period so far is 2020 onward with 7,794 records.

Reviews account for 291 records (3.4%) and meta-analyses for 55. Randomized controlled trials number 21 (0.2%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.

PubMed records by publication periodthrough 1999: 0 records; 2000-2009: 0 records; 2010-2019: 915 records; 2020 onward: 7,794 records0through 199902000-20099152010-20197,7942020 onward
Records in PubMed indexed with this heading, by publication period. Real counts from NCBI E-utilities; the final period covers only part of the current year. Volume reflects how much has been published, not how strong the evidence is.
Show the data
PeriodRecords
through 19990
2000-20090
2010-2019915
2020 onward7,794
Share of records by publication typeReviews: 3.4 percent; Meta-analyses: 0.6 percent; Randomized controlled trials: 0.2 percentReviews3.4% (291)Meta-analyses0.6% (55)Randomized controlled trials0.2% (21)
Share of all PubMed records on this heading that carry each publication type. Types overlap with other records, so the shares do not sum to 100%.
Publication-type chart data
Publication types among 8,514 PubMed records
TypeRecordsShare
Reviews2913.4%
Meta-analyses550.6%
Randomized controlled trials210.2%

Method: PubMed query "RNA-Seq"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.

Reading the evidence in genetics and genomics

Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.

Evidence from open-access studies

These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.

Study comparison — selected abstracts, not a systematic review
Study / authorsYearSource label / designEurope PMC citationsLicence / source
SeuratExtend: streamlining single-cell RNA-seq analysis through an integrated and intuitive framework
Hua Y, Weng L, Zhao F, Rambow F
2025Research article
Design not recorded in structured metadata
38cc by
PMID 40627366 · DOI · PMC12236070
MEBOCOST maps metabolite-mediated intercellular communications using single-cell RNA-seq
Zheng R, Zhang Y, Tsuji T, Gao X, Shamsi F, Wagner A, et al.
2025Research article
Design not recorded in structured metadata
34cc by
PMID 40568942 · DOI · PMC12199156
A multiplex single-cell RNA-Seq pharmacotranscriptomics pipeline for drug discovery
Dini A, Barker H, Piki E, Sharma S, Raivola J, Murumägi A, et al.
2025Research article
Design not recorded in structured metadata
32cc by
PMID 39482470 · DOI · PMC11867973
Building consensus: construction of a juvenile and adult scRNA-seq meta-atlas for dataset comparisons and harmonizing transcriptomic definitions of enteric neuron subtypes
Benthal JT, May-Zhang AA, Southard-Smith EM
2026Research article
Design not recorded in structured metadata
10cc by
PMID 41566221 · DOI · PMC12825290

SeuratExtend: streamlining single-cell RNA-seq analysis through an integrated and intuitive framework [1]

Research article Hua Y, Weng L, Zhao F, Rambow F · · 2025 · cited 38 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of cellular heterogeneity, but the rapid expansion of analytical tools has proven to be both a blessing and a curse, presenting researchers with significant challenges.
Closing excerpt
The package, along with comprehensive documentation, tutorials, and educational resources, is freely available at GitHub, providing a valuable resource for the single-cell genomics community.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (222 words)

Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of cellular heterogeneity, but the rapid expansion of analytical tools has proven to be both a blessing and a curse, presenting researchers with significant challenges. Here, we present SeuratExtend, a comprehensive R package built upon the widely adopted Seurat framework, which streamlines scRNA-seq data analysis by strategically integrating essential tools and databases. SeuratExtend offers a user-friendly and intuitive interface for performing a wide range of analyses, including functional enrichment, trajectory inference, gene regulatory network reconstruction, and denoising. The package integrates multiple databases, such as Gene Ontology and Reactome, and incorporates popular Python tools like scVelo, Palantir, and SCENIC through a unified R interface. We illustrate SeuratExtend's capabilities through case studies investigating tumor-associated high-endothelial venules and autoinflammatory diseases, as well as showcase its novel applications in pathway-level analysis and cluster annotation. SeuratExtend enhances data visualization with optimized plotting functions and carefully curated color schemes, ensuring both aesthetic appeal and scientific rigor. The package's effectiveness has been demonstrated through successful workshops and training programs, establishing its value in both research and educational contexts. SeuratExtend empowers researchers to harness the full potential of scRNA-seq data, making complex analyses accessible to a wider audience. The package, along with comprehensive documentation, tutorials, and educational resources, is freely available at GitHub, providing a valuable resource for the single-cell genomics community.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40627366 · DOI · PMC12236070

MEBOCOST maps metabolite-mediated intercellular communications using single-cell RNA-seq [2]

Research article Zheng R, Zhang Y, Tsuji T, Gao X, Shamsi F, Wagner A, et al. · · 2025 · cited 34 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
Cell-cell communication (CCC) is crucial for cellular function and tissue homeostasis.
Closing excerpt
com/kaifuchenlab/MEBOCOST.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (162 words)

Cell-cell communication (CCC) is crucial for cellular function and tissue homeostasis. Existing methods for protein-oriented CCC detection often overlook metabolite-mediated CCC (mCCC), and adapting them to mCCC analysis is challenging due to fundamental differences in the underlying biological mechanisms. To fill this gap, we developed MEBOCOST, an algorithm built on scRNA-seq and metabolic flux balance analysis to detect mCCC among single cells. Comprehensive benchmarking analyses based on simulation, spatial, CRISPR screen, and clinical patient data demonstrated the robustness of MEBOCOST in detecting biologically significant mCCC events. We applied MEBOCOST to scRNA-seq datasets of human white adipose tissues and unraveled macrophages were the predominant source of mCCC reprogramming in obese patients. Moreover, analysis in mice brown adipose tissue successfully recapitulated known and further uncovered new mCCC events, including a glutamine-mediated endothelial-to-adipocyte communication, which was experimentally verified to regulate adipocyte differentiation. Therefore, MEBOCOST is a valuable tool for researchers investigating mCCC in diverse biological contexts and disease samples. MEBOCOST is freely available at https://github.com/kaifuchenlab/MEBOCOST.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40568942 · DOI · PMC12199156

A multiplex single-cell RNA-Seq pharmacotranscriptomics pipeline for drug discovery [3]

Research article Dini A, Barker H, Piki E, Sharma S, Raivola J, Murumägi A, et al. · · 2025 · cited 32 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
The gene-regulatory dynamics governing drug responses in cancer are yet to be fully understood.
Closing excerpt
Using this workflow could enable the personalized testing of patient-derived tumor samples at single-cell resolution.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (159 words)

The gene-regulatory dynamics governing drug responses in cancer are yet to be fully understood. Here, we report a pipeline capable of producing high-throughput pharmacotranscriptomic profiling through live-cell barcoding using antibody-oligonucleotide conjugates. This pipeline combines drug screening with 96-plex single-cell RNA sequencing. We show the potential of this approach by exploring the heterogeneous transcriptional landscape of primary high-grade serous ovarian cancer (HGSOC) cells after treatment with 45 drugs, with 13 distinct classes of mechanisms of action. A subset of phosphatidylinositol 3-OH kinase (PI3K), protein kinase B (AKT) and mammalian target of rapamycin (mTOR) inhibitors induced the activation of receptor tyrosine kinases, such as the epithelial growth factor receptor (EGFR), and this was mediated by the upregulation of caveolin 1 (CAV1). This drug resistance feedback loop could be mitigated by the synergistic action of agents targeting PI3K-AKT-mTOR and EGFR for HGSOC with CAV1 and EGFR expression. Using this workflow could enable the personalized testing of patient-derived tumor samples at single-cell resolution.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 39482470 · DOI · PMC11867973

Building consensus: construction of a juvenile and adult scRNA-seq meta-atlas for dataset comparisons and harmonizing transcriptomic definitions of enteric neuron subtypes [4]

Research article Benthal JT, May-Zhang AA, Southard-Smith EM · · 2026 · cited 10 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
BACKGROUND: The enteric nervous system (ENS) is a complex network of interconnected ganglia within the gastrointestinal (GI) tract.
Closing excerpt
Future studies face the challenge of connecting these deep transcriptional profiles for enteric neurons with historical classification systems.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (346 words)

BACKGROUND: The enteric nervous system (ENS) is a complex network of interconnected ganglia within the gastrointestinal (GI) tract. Among its diverse functions, the ENS detects bowel luminal contents and coordinates the passing of stool. ENS defects predispose to GI motility disorders. Previously, distinct enteric neuron types were cataloged by dye-filling techniques, immunohistochemistry, retrograde labeling, and electrophysiology. Recent technical advances in single cell RNA-sequencing (scRNA-seq) have enabled transcriptional profiling of hundreds to millions of individual cells from the intestine. These data allow cell types to be resolved and compared using their transcriptional profiles (“clusters”) rather than relying on antibody labeling. As a result, greater diversity of enteric neuron types has been appreciated. Because each scRNA-seq study has relied on different methods for cell isolation and library generation, numbers of neuron clusters and cell types detected differ between analyses. Cell counts in each dataset are particularly important for characterization of rare cell types since small numbers of profiled cells may not sample rare cell types. Importantly, each dataset, depending on the isolation methods, may contain different proportions of cells that are not detected in other datasets. Aggregation of datasets can effectively increase the total number of cells being analyzed and can be helpful for confirming the presence of low-abundance neuron types that might be absent or observed infrequently in any single dataset. RESULTS: Here we briefly systematically review each Mus musculus single cell or single nucleus RNA-sequencing (snRNA-seq) ENS dataset. We then reprocess and computationally integrate these select independent scRNA-seq enteric neuron datasets from the myenteric plexus with the aim to identify new cell types, shared marker genes across juvenile to adult ages, dataset differences, and achieve some consensus on transcriptomic definitions of enteric neuronal subtypes. CONCLUSIONS: Data aggregation generates a consensus view of enteric neuron types and improves resolution of rare neuron classes. This meta-atlas offers a deeper understanding of enteric neuron diversity and may prove useful to investigators aiming to define alterations among enteric neurons in disease states. Future studies face the challenge of connecting these deep transcriptional profiles for enteric neurons with historical classification systems.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41566221 · DOI · PMC12825290

Key reviews and meta-analyses

The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.

  • Research article Eleven grand challenges in single-cell data science [5]
    Lähnemann D, Köster J, Szczurek E, McCarthy DJ, Hicks SC, Robinson MD, et al. · Genome Biol · 2020 · cited 1,074 times (Europe PMC)
  • Research article Interpretation of T cell states from single-cell transcriptomics data using reference atlases [6]
    Andreatta M, Corria-Osorio J, Müller S, Cubas R, Coukos G, Carmona SJ · Nat Commun · 2021 · cited 516 times (Europe PMC)
  • Research article Single-cell Proteomics: Progress and Prospects [7]
    Kelly RT · Mol Cell Proteomics · 2020 · cited 309 times (Europe PMC)
  • Research article Tumor Functional Heterogeneity Unraveled by scRNA-seq Technologies [8]
    González-Silva L, Quevedo L, Varela I · Trends Cancer · 2020 · cited 172 times (Europe PMC)
  • Research article Evaluation of tools for highly variable gene discovery from single-cell RNA-seq data [9]
    Yip SH, Sham PC, Wang J · Brief Bioinform · 2019 · cited 167 times (Europe PMC)
  • Research article Heterogeneity of immune cells in human atherosclerosis revealed by scRNA-Seq [10]
    Vallejo J, Cochain C, Zernecke A, Ley K · Cardiovasc Res · 2021 · cited 146 times (Europe PMC)

References

  1. Hua Y, Weng L, Zhao F, Rambow F. SeuratExtend: streamlining single-cell RNA-seq analysis through an integrated and intuitive framework. . 2025. PMID 40627366 · DOI · PMC12236070
  2. Zheng R, Zhang Y, Tsuji T, Gao X, Shamsi F, Wagner A, et al.. MEBOCOST maps metabolite-mediated intercellular communications using single-cell RNA-seq. . 2025. PMID 40568942 · DOI · PMC12199156
  3. Dini A, Barker H, Piki E, Sharma S, Raivola J, Murumägi A, et al.. A multiplex single-cell RNA-Seq pharmacotranscriptomics pipeline for drug discovery. . 2025. PMID 39482470 · DOI · PMC11867973
  4. Benthal JT, May-Zhang AA, Southard-Smith EM. Building consensus: construction of a juvenile and adult scRNA-seq meta-atlas for dataset comparisons and harmonizing transcriptomic definitions of enteric neuron subtypes. . 2026. PMID 41566221 · DOI · PMC12825290
  5. Lähnemann D, Köster J, Szczurek E, McCarthy DJ, Hicks SC, Robinson MD, et al.. Eleven grand challenges in single-cell data science. Genome Biol. 2020. PMID 32033589 · DOI · PMC7007675
  6. Andreatta M, Corria-Osorio J, Müller S, Cubas R, Coukos G, Carmona SJ. Interpretation of T cell states from single-cell transcriptomics data using reference atlases. Nat Commun. 2021. PMID 34017005 · DOI · PMC8137700
  7. Kelly RT. Single-cell Proteomics: Progress and Prospects. Mol Cell Proteomics. 2020. PMID 32847821 · DOI · PMC7664119
  8. González-Silva L, Quevedo L, Varela I. Tumor Functional Heterogeneity Unraveled by scRNA-seq Technologies. Trends Cancer. 2020. PMID 31952776 · DOI
  9. Yip SH, Sham PC, Wang J. Evaluation of tools for highly variable gene discovery from single-cell RNA-seq data. Brief Bioinform. 2019. PMID 29481632 · DOI · PMC6781572
  10. Vallejo J, Cochain C, Zernecke A, Ley K. Heterogeneity of immune cells in human atherosclerosis revealed by scRNA-Seq. Cardiovasc Res. 2021. PMID 34343272 · DOI · PMC8921647

About this article

Sources
NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
Verification
Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
Review state
automated source verified; no human expert review has been recorded yet.
Version
1, last updated 2026-10-29.

See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.

Evidence strength

EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.

Included with the Researcher plan

Reading every article stays free. This computed view is part of the paid plans.

See plans Sign in

Your notes

Notes and highlights stay in this browser only; they are not sent to EvidenceHelix.

Related research topics

  • Nanopore SequencingGenetics and Genomics
  • Genome-Wide Association StudyGenetics and Genomics
  • Gene Expression ProfilingGenetics and Genomics
  • In Situ HybridizationGenetics and Genomics
  • Multilocus Sequence TypingGenetics and Genomics
  • Peptide MappingGenetics and Genomics

All 95 articles in Genetics and Genomics →

At a glance

8,514
PubMed records on this heading
92%
published since 2020
291
review articles
21
randomized trials
10
verified references below

Counts come from PubMed on 2026-10-29; they show how much has been written, not how strong the evidence is.

Related topics See all →

  • Nanopore SequencingGenetics and Genomics
  • Genome-Wide Association StudyGenetics and Genomics
  • Gene Expression ProfilingGenetics and Genomics
  • In Situ HybridizationGenetics and Genomics
  • Multilocus Sequence TypingGenetics and Genomics

My notes & annotations (0)

Nothing yet. Select text and press Highlight, or write a note in the Notes tab. Stored in this browser only.

Sources

  • NLM MeSH record ↗
  • PubMed search used ↗

EvidenceLib is a research-education resource, not medical advice. It does not diagnose, prescribe or recommend starting, stopping or changing any treatment. Talk to a qualified clinician about your own situation. Methods, sources and licences · Legal · Support