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Jakub Kopal

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Publications

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence
Jakub Kopal
Kuldeep Kumar
Karin Saltoun
Claudia Modenato
Clara A. Moreau
Sandra Martin-Brevet
Guillaume Huguet
Martineau Jean-Louis
C.O. Martin
Zohra Saci
Nadine Younis
Petra Tamer
Elise Douard
Anne M. Maillard
Borja Rodriguez-Herreros
Aurélie Pain
Sonia Richetin
Leila Kushan
Ana I. Silva
Marianne B.M. van den Bree … (voir 12 de plus)
David E.J. Linden
M. 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 exert profound effects on brain and behavior. Previous re… (voir plus)ports of pleiotropy in CNVs imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, studies to date have primarily examined single CNV loci in small clinical cohorts. It remains unknown how distinct CNVs escalate the risk for the same developmental and psychiatric disorders. Here, we quantitatively dissect the impact on brain organization and behavioral differentiation across eight key CNVs. In 534 clinical CNV carriers from multiple sites, we explored CNV-specific brain morphology patterns. We extensively annotated these CNV-associated patterns with deep phenotyping assays through the UK Biobank resource. Although the eight CNVs cause disparate brain changes, they are tied to similar phenotypic profiles across ∼1000 lifestyle indicators. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.
2022-04-25
bioRxiv (prépublication)
doi.org