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

A multilevel pattern-learning framework investigates the effects of genome-wide protein-coding mutations on brain organization and behaviour in the Adolescent Brain Cognitive Development cohort.

Jakub Kopal
Guillaume Huguet
Danilo Bzdok
ResearchOpen Access18 Jul 2025
Nature Biomedical Engineering

P: 1-16
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence

Kopal and colleagues built computational bridges between rare CNVs in a clinical dataset and their deep phenotypic profiling in ~40,000 UK Biobank participants. Results show that CNVs are associated with many organ systems across the entire body.

Jakub Kopal
Kuldeep Kumar
Danilo Bzdok
Research02 Mar 2023
Nature Human Behaviour

Volume: 7, P: 1001-1017
Quantifying associations between socio-spatial factors and cognitive development in the ABCD cohort

The study proposes a diversity-aware population modeling framework that can guide targeted strategies in public health, using Bayesian multilevel regression and post-stratification to quantify sociodemographic disparities in cognitive development.

Nicole Osayande
Justin Marotta
Danilo Bzdok
Research20 Mar 2025
Nature Computational Science

Volume: 5, P: 221-233
Copy number variants and the tangential expansion of the cerebral cortex

Variation in cortical surface area in adults can reflect developmental events occurring during prenatal and early postnatal periods. Here, the authors find rare copy number variants associated with cortical surface area, which are also found to disrupt neural progenitor proliferation during fetal development.

Zhijie Liao
Kuldeep Kumar
Tomas Paus
ResearchOpen Access17 Feb 2025
Nature Communications

Volume: 16, P: 1-12
The default network dominates neural responses to evolving movie stories

How brain networks process dynamic naturalistic stimuli is not well understood. Here, the authors use machine learning algorithms to show that brain states in the default network capture the semantic aspects of an unfolding narrative during movie watching.

Enning Yang
Filip Milisav
Danilo Bzdok
ResearchOpen Access14 Jul 2023
Nature Communications

Volume: 14, P: 1-18
Using rare genetic mutations to revisit structural brain asymmetry

Asymmetry is a key organising principle of the brain. Here the authors leveraged rare genetic mutations to revisit structural brain asymmetry showing the planum temporale is susceptible to deletions & duplications of specific gene sets.

Jakub Kopal
Kuldeep Kumar
Danilo Bzdok
ResearchOpen Access26 Mar 2024
Nature Communications

Volume: 15, P: 1-19
Author Correction: Using rare genetic mutations to revisit structural brain asymmetry

Jakub Kopal
Kuldeep Kumar
Danilo Bzdok
Amendments and CorrectionsOpen Access10 Apr 2024
Nature Communications

Volume: 15, P: 1
The end game: respecting major sources of population diversity

Human neuroscience is enjoying burgeoning population data resources: large-scale cohorts with thousands of participant profiles of gene expression, brain scanning and sociodemographic measures. The depth of phenotyping puts us in a better position than ever to fully embrace major sources of population diversity as effects of interest to illuminate mechanisms underlying brain health.

Jakub Kopal
Lucina Q. Uddin
Danilo Bzdok
Comments & Opinion03 Mar 2023
Nature Methods

Volume: 20, P: 1122-1128

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