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Fig. 1 | Molecular Autism

Fig. 1

From: Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells

Fig. 1

Graphical summary of how hPSC-derived neurons can be used to model the functional consequences of ASD-associated non-coding variants. WGS will identify de novo variants in people with ASD (*), which will then be mapped to specific locations in the genome. Genomic loci are annotated as functional elements based on transcriptomics, chromatin state analyses, and computation predictions. ASD-associated variants can be modeled using personalized iPSCs from people with ASD or by genome editing to introduce or repair ASD-associated variants. hPSC-derived neurons are then made by directed differentiation (via a NPC stage) or direct conversion, and functional consequences of non-coding variants are determined by analyzing gene expression and connectivity

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Molecular Autism

ISSN: 2040-2392