Evidence map›Paper›PMID 42078338›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Rare protein-disrupting variants in

Cathal Ormond, Mathieu Cap, Yi-Chieh Chang, Niamh Ryan, Denise Chavira, Kyle Williams, Jon E Grant, Carol Mathews, Elizabeth A Heron, Aiden Corvin

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. 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

10 authors.

Cathal OrmondNeuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.ORCID 0000-0002-5717-0508
Mathieu CapNeuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.
Yi-Chieh ChangDepartment of Psychiatry, McKnight Brain Institute, Center for OCD, Anxiety, and Related Disorders, University of Florida, Gainesville, Florida, United States of America.
Niamh RyanNeuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.ORCID 0000-0001-9773-2248
Denise ChaviraDepartment of Psychology, University of California Los Angeles, Los Angeles, California, United States of America.ORCID 0000-0002-6403-2509
Kyle WilliamsDepartment of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
Jon E GrantDepartment of Psychiatry & Behavioral Neuroscience, University of Chicago, Chicago, Illinois, United States of America.
Carol MathewsDepartment of Psychiatry, McKnight Brain Institute, Center for OCD, Anxiety, and Related Disorders, University of Florida, Gainesville, Florida, United States of America.ORCID 0000-0003-2208-7058
Elizabeth A HeronNeuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.ORCID 0000-0003-2219-4005
Aiden CorvinNeuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.ORCID 0000-0001-6717-4089

Funding

6/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124875 · NIMH · TRINITY COLLEGE DUBLIN · PI Aiden Peter Corvin · 2021 to 2026
$765k
NIMH NIH HHS R01 MH124875
6 · The paper itself

Abstract

Obsessive compulsive disorder (OCD) is significantly heritable, but only a fraction of the contributory genetic variation has been identified, and the molecular etiology involved remains obscure. Identifying rare contributory variants of large effect would be an important milestone in helping to elucidate the mechanisms involved. Analysis of densely affected pedigrees is a potentially useful strategy to bypass the sample size challenges of standard case-control approaches. Here we performed whole genome sequencing (WGS) of 25 individuals across two multiplex OCD pedigrees. We prioritised rare variants using a Bayesian inference approach which incorporates variant pathogenicity and co-segregation with OCD. In the first pedigree, we identified a highly deleterious missense variant in

Indexed as

copy number variantco-segregationObsessive compulsive disorderpedigreerare variantwhole genome sequencing

Identifiers

PMID42078338
PMCPMC13131690

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.