Evidence map›Paper›PMID 40950416›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Ribosome heterogeneity arising from common and rare rRNA sequence variants affects diverse human phenotypes.

Daphna Rothschild, Anil Raj, Jordan Brown, Nathaniel Thayer, Manuel Hotz, David Hendrickson, Jonathan K Pritchard, Maria Barna

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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.

Daphna RothschildDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Anil RajCalico Life Sciences LLC, South San Francisco, CA 94080, USA.
Jordan BrownCalico Life Sciences LLC, South San Francisco, CA 94080, USA.
Nathaniel ThayerCalico Life Sciences LLC, South San Francisco, CA 94080, USA.
Manuel HotzCalico Life Sciences LLC, South San Francisco, CA 94080, USA.
David HendricksonCalico Life Sciences LLC, South San Francisco, CA 94080, USA.
Jonathan K PritchardDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Maria BarnaDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.

Funding

Integration of genetic association mapping and functional data to elucidate genetic mechanisms of diseaseR01HG008140 · NHGRI · STANFORD UNIVERSITY · PI JONATHAN K PRITCHARD · 2016 to 2026
$7.3M
Specialized Translational Control of Stem Cell Differentiation and Embryonic DevelopmentR01HD086634 · NICHD · STANFORD UNIVERSITY · PI BARNA, MARIA · 2016 to 2025
$5.5M
Bayesian estimation of gene effects on traits from coding variantsR01HG014005 · NHGRI · STANFORD UNIVERSITY · PI JONATHAN K PRITCHARD · 2025 to 2026
$1.3M
NHGRI NIH HHS R01 HG008140NHGRI NIH HHS R01 HG014005NICHD NIH HHS R01 HD086634
6 · The paper itself

Abstract

rRNA genes exhibit intra-individual hyper-variability and an outstanding question is their role in human health and disease. These include variants positioned at enigmatic regions of rRNA named Expansion-Segments (ESs) that protrude from the core of the ribosome, with poorly understood functions. In this study, we analyze rRNA variants in the UK Biobank population, revealing that common rRNA variations that give rise to

Identifiers

PMID40950416
PMCPMC12424869

What OpenQuestion holds

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Registered trials

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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.