Evidence map›Paper›PMID 40060668›Full record

ArticlebioRxiv : the preprint server for biology2025

Landscapes of missense variant impact for human superoxide dismutase 1.

Anna Axakova, Megan Ding, Atina G Cote, Radha Subramaniam, Vignesh Senguttuvan, Haotian Zhang, Jochen Weile, Samuel V Douville, Marinella Gebbia, Ammar Al-Chalabi and 8 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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

18 authors.

Anna AxakovaDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.ORCID 0009-0007-5844-4367
Megan DingDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.
Atina G CoteDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.ORCID 0000-0002-0340-9325
Radha SubramaniamDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.ORCID 0000-0002-2109-2755
Vignesh SenguttuvanDepartment of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.
Haotian ZhangDepartment of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.
Jochen WeileDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.ORCID 0000-0003-1628-9390
Samuel V DouvilleDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.
Marinella GebbiaDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.ORCID 0000-0002-2550-2141
Ammar Al-ChalabiMaurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 9RX, UK.
Alexander WahlLabcorp Genetics (Formerly Invitae Corp.), CA 94103, USA.
Jason ReuterLabcorp Genetics (Formerly Invitae Corp.), CA 94103, USA.ORCID 0000-0002-0651-3742
Jessica HurtBiogen Inc, Cambridge, MA 02142, USA.ORCID 0000-0003-4943-3117
Adele MitchellBiogen Inc, Cambridge, MA 02142, USA.
Stephanie FradetteBiogen Inc, Cambridge, MA 02142, USA.
Peter M AndersenUmeå University, Umeå, 901 87, Sweden.
Warren van LoggerenbergDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada.ORCID 0000-0002-4912-1044
Frederick P RothDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, 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
NHGRI NIH HHS RM1 HG010461NHGRI NIH HHS UM1 HG011989NHLBI NIH HHS R01 HL164675
6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease for which important subtypes are caused by variation in the Superoxide Dismutase 1 gene

Identifiers

PMID40060668
PMCPMC11888409

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.