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Jakub Kopal

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Publications

Using rare genetic mutations to revisit structural brain asymmetry
Jakub Kopal
Kuldeep Kumar
Kimia Shafighi
Karin Saltoun
Claudia Modenato
Clara A. Moreau
Guillaume Huguet
Martineau Jean-Louis
Charles-Olivier Martin
Zohra Saci
Nadine Younis
Élise Douard
Khadije Jizi
Alexis Beauchamp-Chatel
Leila Kushan
Ana I. Silva
Marianne B. M. van den Bree
David E. J. Linden
Michael J. Owen
Jeremy Hall … (voir 10 de plus)
Sarah Lippé
Bogdan Draganski
Ida E. Sønderby
Ole A. Andreassen
David C. Glahn
Paul M. Thompson
Carrie E. Bearden
Robert Zatorre
Sébastien Jacquemont
Danilo Bzdok
Asymmetry between the left and right brain is a key feature of brain organization. Hemispheric functional specialization underlies some of t… (voir plus)he most advanced human-defining cognitive operations, such as articulated language, perspective taking, or rapid detection of facial cues. Yet, genetic investigations into brain asymmetry have mostly relied on common variant studies, which typically exert small effects on brain phenotypes. Here, we leverage rare genomic deletions and duplications to study how genetic alterations reverberate in human brain and behavior. We quantitatively dissected the impact of eight high-effect-size copy number variations (CNVs) on brain asymmetry in a multi-site cohort of 552 CNV carriers and 290 non-carriers. Isolated multivariate brain asymmetry patterns spotlighted regions typically thought to subserve lateralized functions, including language, hearing, as well as visual, face and word recognition. Planum temporale asymmetry emerged as especially susceptible to deletions and duplications of specific gene sets. Targeted analysis of common variants through genome-wide association study (GWAS) consolidated partly diverging genetic influences on the right versus left planum temporale structure. In conclusion, our gene-brain-behavior mapping highlights the consequences of genetically controlled brain lateralization on human-defining cognitive traits.
2023-04-17
bioRxiv (prépublication)
doi.org
The end game: respecting major sources of population diversity
Jakub Kopal
Lucina Q. Uddin
Danilo Bzdok
Human neuroscience is enjoying burgeoning population data resources: large-scale cohorts with thousands of participant profiles of gene expr… (voir plus)ession, 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.
2023-03-02
Nature Methods (publié)
doi.org
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
Jakub Kopal
Kuldeep Kumar
Karin Saltoun
Claudia Modenato
Clara Moreau
Sandra Martin‐Brevet
Guillaume Huguet
Martineau Jean‐Louis
Charles-Olivier Martin
Zohra Saci
Nadine Younis
Petra Tamer
Élise Douard
Anne Maillard
Borja Rodríguez‐Herreros
Aurélie Pain
Sonia Richetin
Leila Kushan
Ana Isabel Silva
Marianne van den Bree … (voir 12 de plus)
David E.J. Linden
Michael J. Owen
Jeremy Hall
Sarah Lippé
Bogdan Draganski
Ida E. Sønderby
Ole A. Andreassen
David C. Glahn
Paul M. Thompson
Carrie E. Bearden
Sébastien Jacquemont
Danilo Bzdok
Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleio… (voir plus)tropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts. It remains unknown, for example, how distinct CNVs escalate vulnerability for the same developmental and psychiatric disorders. Here we quantitatively dissect the associations between brain organization and behavioural differentiation across 8 key CNVs. In 534 CNV carriers, we explored CNV-specific brain morphology patterns. CNVs were characteristic of disparate morphological changes involving multiple large-scale networks. We extensively annotated these CNV-associated patterns with ~1,000 lifestyle indicators through the UK Biobank resource. The resulting phenotypic profiles largely overlap and have body-wide implications, including the cardiovascular, endocrine, skeletal and nervous systems. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.
2023-03-01
Nature Human Behaviour (inconnu)
doi.org
Endorsing Complexity Through Diversity: Computational Psychiatry Meets Big Data Analytics
Jakub Kopal
Danilo Bzdok
2022-08-04
Biological Psychiatry (inconnu)
doi.org