Evidence map›Paper›PMID 41332640›Full record

ArticlebioRxiv : the preprint server for biology2025

Systematic and proactive evaluation of AIRE missense variant effects.

Anna Axakova, Amund H Berger, Warren van Loggerenberg, Nishka Kishore, Marinella Gebbia, Megan X Ding, Samuel V Douville, Daniel R Tabet, Atina G Cote, Jochen Weile and 3 more

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

5 · Who and what money

Authors and funding

13 authors.

Anna AxakovaDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.ORCID 0009-0007-5844-4367
Amund H BergerDepartment of Clinical Science, University of Bergen, Norway.ORCID 0000-0001-6973-2048
Warren van LoggerenbergDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-4912-1044
Nishka KishoreDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-9219-4310
Marinella GebbiaDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-2550-2141
Megan X DingDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.
Samuel V DouvilleDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.
Daniel R TabetDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.ORCID 0009-0006-5480-7733
Atina G CoteDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.
Jochen WeileDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0003-1628-9390
Stefan JohanssonDepartment of Clinical Science, University of Bergen, Norway.ORCID 0000-0002-2298-7008
Eirik BratlandDepartment of Clinical Science, University of Bergen, Norway.ORCID 0000-0002-8359-9818
Frederick P RothDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-6628-649X

Funding

Technology to understand genetic variant effects in contextRM1HG010461 · NHGRI · UNIVERSITY OF WASHINGTON · PI Douglas M Fowler, Bruce Colston Trapnell · 2019 to 2026
$18.9M
Molecular phenotyping of ~100,000 coding variants across Mendelian disease genesUM1HG011989 · NHGRI · DANA-FARBER CANCER INST · PI Marc Vidal · 2021 to 2026
$9.9M
Systematically mapping variant effects for cardiovascular genesR01HL164675 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ASHLEY, EUAN A, RODEN, DAN M · 2022 to 2025
$8.1M
A Proactive Missense Variant Atlas for the Autoimmune RegulatorR21AI173827 · NIAID · UNIVERSITY OF TORONTO · PI ROTH, FREDERICK P · 2023 to 2024
$374k
NHGRI NIH HHS RM1 HG010461NHGRI NIH HHS UM1 HG011989NHLBI NIH HHS R01 HL164675NIAID NIH HHS R21 AI173827
6 · The paper itself

Abstract

Pathogenic variants in the Autoimmune Regulator (

Identifiers

PMID41332640
PMCPMC12667976

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.