Rare copy-number variants as modulators of common disease susceptibility

C Auwerx, M Jõeloo, MC Sadler, N Tesio, S Ojavee… - Genome Medicine, 2024 - Springer
Abstract Background Copy-number variations (CNVs) have been associated with rare and
debilitating genomic disorders (GDs) but their impact on health later in life in the general …

Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment

VR Bourque, C Poulain, C Proulx, CA Moreau… - Translational …, 2024 - nature.com
There is widespread overlap across major psychiatric disorders, and this is the case at
different levels of observations, from genetic variants to brain structures and function and to …

Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

BU Mudassir, MA Alotaibi, N Kizilbash, D Alruwaili… - Heliyon, 2023 - cell.com
Structural reorganization of chromosomes by genomic duplications and/or deletions are
known as copy number variations (CNVs). Pathogenic and disease susceptible CNVs alter …

[PDF][PDF] Endorsing complexity through diversity: computational psychiatry meets big data analytics

J Kopal, D Bzdok - Biological psychiatry, 2023 - Elsevier
Brain sciences have recently been argued to be the most data-rich speciality in medicine (1).
The abundance of biomedical data is partly explained by the neurosciences' use of …

Using rare genetic mutations to revisit structural brain asymmetry

J Kopal, K Kumar, K Shafighi, K Saltoun… - nature …, 2024 - nature.com
Asymmetry between the left and right hemisphere is a key feature of brain organization.
Hemispheric functional specialization underlies some of the most advanced human-defining …

High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology

J Kopal, G Huguet, J Marotta, S Aggarwal, N Osayande… - medRxiv, 2024 - medrxiv.org
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 …

Copy-number variants as modulators of common disease susceptibility

C Auwerx, M Jõeloo, MC Sadler, N Tesio, S Ojavee… - medRxiv, 2023 - medrxiv.org
ABSTRACT Background Copy-number variations (CNVs) have been associated with rare
and debilitating genomic syndromes but their impact on health later in life in the general …

Knowledge-Based Prioritization of Genomic Variations: A Quest for Detailed Understanding the Genetic Architecture of Diseases

IY Iourov - 2023 - preprints.org
Understanding the genetic architecture of a disease is crucial for development of valid
diagnostic and therapeutic interventions. The analysis of genomic variations associated with …

On the Neurobiological Basis of Chronotype: Insights from a Multimodal Population Neuroscience Study

L Zhou, K Saltoun, J Carrier, KF Storch, R Dunbar… - 2024 - researchsquare.com
The rapid shifts of society have brought about changes in human behavioral patterns, with
increased evening activities, increased screen time, and postponed sleep schedules. As an …