Evidence map›Paper›PMID 40681863›Full record

ArticleNature biomedical engineering2026

A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort.

Jakub Kopal, Guillaume Huguet, Justin Marotta, Shambhavi Aggarwal, Nicole Osayande, Kuldeep Kumar, Zohra Saci, Martineau Jean-Louis, Xiaoqian J Chai, Tian Ge and 6 more

Abstract read
In one paragraph

Article in Nature biomedical engineering, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

16 authors.

Jakub KopalDepartment of Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-1201-2872
Guillaume HuguetCentre de recherche CHU Sainte-Justine, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-4746-6030
Justin MarottaDepartment of Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Shambhavi AggarwalDepartment of Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Nicole OsayandeDepartment of Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0009-0009-5951-4579
Kuldeep KumarCentre de recherche CHU Sainte-Justine, Montreal, Quebec, Canada.
Zohra SaciCentre de recherche CHU Sainte-Justine, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0003-2788-1306
Martineau Jean-LouisCentre de recherche CHU Sainte-Justine, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-3305-3307
Xiaoqian J ChaiDepartment of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Tian GePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
B T Thomas YeoDepartment of Electrical and Computer Engineering, National University of Singapore, Singapore, Singapore.ORCID http://orcid.org/0000-0002-0119-3276
Paul M ThompsonImaging Genetics Center, Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of USC, Los Angeles, CA, USA.
Carrie E BeardenSemel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, UCLA, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-8516-923X
Ole A AndreassenCentre for Precision Psychiatry, Division of Mental Health and Addiction, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-4461-3568
Sébastien JacquemontCentre de recherche CHU Sainte-Justine, Montreal, Quebec, Canada.
Danilo BzdokDepartment of Biomedical Engineering, Faculty of Medicine, McGill University, Montreal, Quebec, Canada. danilo.bzdok@mcgill.ca.ORCID http://orcid.org/0000-0003-3466-6620

Funding

Neurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M
Understanding Rare Genetic Variation and Disease Risk: A Global Neurogenetics InitiativeR01MH129858 · NIMH · SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR · PI CARRIE E BEARDEN, Sebastien Jacquemont · 2023 to 2026
$2.4M
NIMH NIH HHS R01 MH129858NIMH NIH HHS R37 MH085953
6 · The paper itself

Abstract

Our genetic makeup, together with environmental and social influences, shape our brain's development. Yet, the imaging-genetics field has struggled to integrate all these modalities to investigate the interplay between genetic blueprint, brain architecture, environment, human health and daily living skills. Here we interrogate the Adolescent Brain Cognitive Development (ABCD) cohort to outline the effects of rare high-effect genetic variants on brain architecture and their corresponding implications on cognitive, behavioural, psychosocial and socioeconomic traits. We design a holistic pattern-learning framework that quantitatively dissects the impacts of copy number variations (CNVs) on brain structure and 938 behavioural variables spanning 20 categories in 7,338 adolescents. Our results reveal associations between genetic alterations, higher-order brain networks and specific parameters of the family wellbeing, including increased parental and child stress, anxiety and depression, or neighbourhood dynamics such as decreased safety. We thus find effects extending beyond the impairment of cognitive ability or language capacity which have been previously reported. Our investigation spotlights the interplay between genetic variation and subjective life quality in adolescents and their families.

Indexed as

AlgorithmsBrainDNA Copy Number VariationsAdolescentChildCognitionCohort StudiesFemaleHumansMagnetic Resonance ImagingMale

Identifiers

PMID40681863
PMCPMC12920106

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.