Evidence map›Paper›PMID 40032585›Full record

ReviewGenome research2025

Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation.

Carolina Monzó, Adam Frankish, Ana Conesa

Abstract readReview
In one paragraph

Review in Genome research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Long-Read Sequencing Reveals RNA Splicing Complexity in Human Diseases.Computational and structural biotechnology journal · 2026
    Review
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Carolina MonzóInstitute for Integrative Systems Biology (I2SysBio), Spanish National Research Council (CSIC), Paterna 46980, Spain.ORCID 0000-0002-5043-8145
Adam FrankishEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge CB10 1SA, United Kingdom.ORCID 0000-0002-4333-628X
Ana ConesaInstitute for Integrative Systems Biology (I2SysBio), Spanish National Research Council (CSIC), Paterna 46980, Spain; ana.conesa@csic.es.ORCID 0000-0001-9597-311X

Funding

GENCODE Resource ProjectU41HG007234 · NHGRI · SANGER INSTITUTE · PI FLICEK, PAUL · 2013 to 2020
$20.3M
GENCODE: comprehensive reference genome annotation for human and mouseU24HG007234 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Fergal James Martin · 2021 to 2026
$16.1M
Development of methods for transcript quantification anddifferential expression analysis using long-read sequencing technologiesR21HG011280 · NHGRI · UNIVERSITY OF FLORIDA · PI CONESA CEGARRA, ANA VICTORIA · 2020 to 2020
$307k
European Research Council 101149931NHGRI NIH HHS R21 HG011280NHGRI NIH HHS U24 HG007234NHGRI NIH HHS U41 HG007234
6 · The paper itself

Abstract

Long-read sequencing (LRS) technologies have revolutionized transcriptomic research by enabling the comprehensive sequencing of full-length transcripts. Using these technologies, researchers have reported tens of thousands of novel transcripts, even in well-annotated genomes, while developing new algorithms and experimental approaches to handle the noisy data. The Long-read RNA-seq Genome Annotation Assessment Project community effort benchmarked LRS methods in transcriptomics and validated many novel, lowly expressed, often times sample-specific transcripts identified by long reads. These molecules represent deviations of the major transcriptional program that were overlooked by short-read sequencing methods but are now captured by the full-length, single-molecule approach. This Perspective discusses the challenges and opportunities associated with LRS' capacity to unravel this fraction of the transcriptome, in terms of both transcriptome biology and genome annotation. For transcriptome biology, we need to develop novel experimental and computational methods to effectively differentiate technology errors from rare but real molecules. For genome annotation, we must agree on the strategy to capture molecular variability while still defining reference annotations that are useful for the genomics community.

Indexed as

GenomicsHigh-Throughput Nucleotide SequencingMolecular Sequence AnnotationSequence Analysis, RNATranscription, GeneticTranscriptomeAnimalsComputational BiologyGene Expression ProfilingHumans

Identifiers

PMID40032585
PMCPMC12047247

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.