Evidence map›Paper›PMID 41278766›Full record

ArticlebioRxiv : the preprint server for biology2025

Long-read sequencing reveals extensive

Anna Dischler, Akshay Avvaru, Susana Lopez-Ignacio, Cristina Lau, Martin W Breuss, Verónica Martínez Cerdeño, Harriet Dashnow, Caroline M Dias

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Anna DischlerSection of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz, Aurora, CO 80045, USA.ORCID 0000-0002-1798-0469
Akshay AvvaruDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO 80045, USA.ORCID 0000-0003-4698-9363
Susana Lopez-IgnacioSection of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz, Aurora, CO 80045, USA.ORCID 0009-0006-2222-0727
Cristina LauHuman Medical Genetics and Genomics Graduate Training Program, University of Colorado Anschutz, CO 80045, USA.
Martin W BreussSection of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz, Aurora, CO 80045, USA.ORCID 0000-0003-2200-8604
Verónica Martínez CerdeñoDepartment of Pathology and Laboratory Medicine, MIND Institute, UC Davis School of Medicine; Sacramento, CA 95817, USA.ORCID 0000-0002-9613-3603
Harriet DashnowDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO 80045, USA.ORCID 0000-0001-8433-6270
Caroline M DiasSection of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz, Aurora, CO 80045, USA.ORCID 0000-0003-1315-6007

Funding

University of Colorado Cancer Center Support Grant - Lung Cancer Patient-Derived Xenografts with Autologous Human Immune SystemsP30CA046934 · NCI · UNIVERSITY OF COLORADO DENVER · PI James V Degregori · 1988 to 2026
$117.0M
University of Colorado Anschutz Medical Campus DRCP30DK116073 · NIDDK · UNIVERSITY OF COLORADO DENVER · PI LORI SUSSEL · 2020 to 2026
$10.8M
Fragile X-associated tremor/ataxia syndrome (FXTAS) pathology and anatomy: imaging and clinical correlatesR01NS107131 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI MARTINEZ-CERDENO, VERONICA · 2018 to 2022
$2.6M
Revealing new short tandem repeat variation in the human population across sequencing technologies: towards rare disease diagnosis and discoveryR00HG012796 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI Harriet Dashnow · 2024 to 2026
$747k
NCI NIH HHS P30 CA046934NHGRI NIH HHS R00 HG012796NIDDK NIH HHS P30 DK116073NINDS NIH HHS R01 NS107131
6 · The paper itself

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a CGG repeat expansion in the 5' untranslated region of the X-linked Fragile X messenger ribonucleoprotein 1 (

Identifiers

PMID41278766
PMCPMC12632538

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.