Evidence map›Paper›PMID 39371417›Full record

ArticleFrontiers in genetics2024

A proteogenomic atlas of the human neural retina.

Tabea V Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Suzanne E de Bruijn, Erica Boonen, Tomasz Z Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J C T Wessels and 12 more

Abstract read
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Dynamic changes in mRNA isoform usage during human retinal development.bioRxiv : the preprint server for biology · 2025
    Article
  6. 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

22 authors.

Tabea V RiepeDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, Netherlands.
Merel StemerdinkDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
Renee SalzDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, Netherlands.
Alfredo Dueñas ReyCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Suzanne E de BruijnDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Erica BoonenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Tomasz Z TomkiewiczDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Michael KwintDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Jolein GloerichDepartment of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
Hans J C T WesselsDepartment of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
Emma DelanoteCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Elfride De BaereCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Filip van NieuwerburghNXTGNT, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium.
Sarah De KeulenaerNXTGNT, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium.
Barbara FerrariFondazione Banca degli Occhi del Veneto, Venice, Italy.
Stefano FerrariFondazione Banca degli Occhi del Veneto, Venice, Italy.
Frauke CoppietersCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Erwin van WykDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Erik de VriezeDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
Peter A C 't HoenDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understanding retina-specific splicing but have limitations in detailing transcript isoforms. To address this, we generated a proteogenomic atlas that combines PacBio long-read RNA-sequencing data with mass spectrometry and whole genome sequencing data of three healthy human neural retina samples. We identified nearly 60,000 transcript isoforms, of which approximately one-third are novel. Additionally, ten novel peptides confirmed novel transcript isoforms. For instance, we identified a novel

Indexed as

alternative splicinginherited retinal disease (IRD)isoformlong-read sequencingmass spectrometrymulti-omicsneural retinaproteogenomics

Identifiers

PMID39371417
PMCPMC11450717

What Socratic 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 Socratic graph.