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

Abstract

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 resource integrating quantitative phenotypic data, whole genome sequencing, brain magnetic resonance imaging, and electroencephalography. A total of 2,061 autistic people, 2,551 relatives and 875 neurotypical people were recruited in Europe through LEAP-InovAND, including 2,531 participants with both clinical and genetic data, and 875 with additionally neuroimaging data (EEG and/or MRI). By stratifying participants according to autistic traits and cognitive abilities, we identified three clusters with different load of both rare and common variants, particularly in genes associated with synaptic and chromatin remodeling functions. Correspondingly, each cluster exhibits different anatomical and connectivity patterns in brain regions previously linked to sensory and social information processing. This resource is available to support research into the complex connections between genetics, brain structure/function, and autism.