LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism

Résumé fourni par la source

Most current autism research focuses on categorical comparisons (e.g., autistic vs. neurotypical people) and usually examines only one biological domain (e.g., cognition, genetics, or brain imaging). Here, we present a comprehensive resource integrating quantitative phenotypic data, whole genome sequencing, brain magnetic resonance imaging, and electroencephalography. A total of 5,549 people were recruited in Europe through LEAP and InovAND, including 2,061 autistic people, 62 people with intellectual developmental disability who do not meet diagnostic criteria for autism, 2,551 undiagnosed relatives and 875 neurotypical people. Among these people, 2,531 have both clinical and genetic data, and 875 people additionally have neuroimaging data (EEG and/or MRI). We stratified people based on autistic traits and cognitive skills, revealing clusters with distinct genetic and brain signatures. Differences were observed in both rare and common variants, particularly in synaptic and chromatin remodeling genes pathways, and suggesting distinct trajectories of cortical maturation at early stages of development. This resource is available to support research into the complex links between genes, brain structures/functions, and autism.

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