Evidence map›Paper›PMID 32660935›Full record

ArticleGenome research2020

A long-read RNA-seq approach to identify novel transcripts of very large genes.

Prech Uapinyoying, Jeremy Goecks, Susan M Knoblach, Karuna Panchapakesan, Carsten G Bonnemann, Terence A Partridge, Jyoti K Jaiswal, Eric P Hoffman

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing 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

31 citing papers in PubMed, 58 citations in OpenAlex.

  1. Article
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  10. Differential inclusion ofmedRxiv : the preprint server for health sciences · 2024
    Article
  11. Review
  12. Article
  13. Article
  14. RNA Transcript Diversity in Neuromuscular Research.Journal of neuromuscular diseases · 2023
    Review
  15. Article
  16. Review
  17. Article
  18. Long-read sequencing improves diagnostic rate in neuromuscular disorders.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023
    Review
  19. Article
  20. 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

8 authors at 4 institutions in 1 country.

Prech UapinyoyingCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.ORCID 0000-0003-1950-4164
Jeremy GoecksComputational Biology Program, Oregon Health and Science University, Portland, Oregon 97239, USA.ORCID 0000-0002-4583-5226
Susan M KnoblachCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.ORCID 0000-0001-9730-2264
Karuna PanchapakesanCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.
Carsten G BonnemannCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.ORCID 0000-0002-5930-2324
Terence A PartridgeCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.ORCID 0000-0003-0203-758X
Jyoti K JaiswalCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.ORCID 0000-0002-5992-5185
Eric P HoffmanCenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.ORCID 0000-0001-6470-5139
Children's National · USNational Institutes of Health · USBinghamton University · USOregon Health & Science University · US

Funding

Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8M
Improved Diagnostic of the Muscular DystrophiesR01NS029525 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HOFFMAN, ERIC P. · 1991 to 2015
$6.5M
Research_ProjectU54HD090257 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI GUAY-WOODFORD, LISA MARIE · 2016 to 2020
$5.9M
Genetics and Genomics of Muscle Postdoctoral Training ProgramT32AR056993 · NIAMS · CHILDREN'S RESEARCH INSTITUTE · PI JAISWAL, JYOTI K, PARTRIDGE, TERENCE A · 2010 to 2019
$2.2M
NIAMS NIH HHS T32 AR056993NICHD NIH HHS U54 HD090257NINDS NIH HHS R01 NS029525
6 · The paper itself

Abstract

RNA-seq is widely used for studying gene expression, but commonly used sequencing platforms produce short reads that only span up to two exon junctions per read. This makes it difficult to accurately determine the composition and phasing of exons within transcripts. Although long-read sequencing improves this issue, it is not amenable to precise quantitation, which limits its utility for differential expression studies. We used long-read isoform sequencing combined with a novel analysis approach to compare alternative splicing of large, repetitive structural genes in muscles. Analysis of muscle structural genes that produce medium (

Indexed as

Gene Expression ProfilingHigh-Throughput Nucleotide SequencingRNA, MessengerSequence Analysis, RNATranscriptomeAlternative SplicingComputational BiologyExonsHumansMolecular Sequence AnnotationOrgan SpecificityRepetitive Sequences, Nucleic AcidRNA, Messenger

Identifiers

PMID32660935
PMCPMC7370890
OpenAlexW3038774644

What OpenQuestion holds

Textmetadata
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.