Across >150,000 individuals, we identified hundreds of genes associated with autism spectrum disorder (ASD) and atypical neurodevelopment. Most ASD-related genes were also associated with developmental delay. However, increased mutation rates in ASD and shared genetic risk with schizophrenia was observed for some genes, many of which are enriched in developing neurons.
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Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434–443 (2020). An Article that defines mutational constraint metrics for all genes in the human genome.
Werling, D. M. et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat. Genet. 50, 727–736 (2018). A study that catalogued mutations in families with ASD using whole-genome sequencing.
Kaplanis, J. et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757–762 (2020). A study that analyzes rare coding variants across the neurodevelopmental disorder cases used in the current study.
Nowakowski, T. J. et al. Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex. Science 358, 1318–1323 (2017). An Article that presents single-cell sequencing of neuronal cell types.
Singh, T. et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 604, 1–9 (2022). A large study of rare variant association analyses in schizophrenia cases.
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This is a summary of: Fu, J. M. et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat. Genet. https://doi.org/10.1038/s41588-022-01104-0 (2022).
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Diverse mutations in autism-related genes and their expression in the developing brain. Nat Genet 54, 1263–1264 (2022). https://doi.org/10.1038/s41588-022-01114-y