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Neurogenetics

Rare and common autism risk variants converge across 16p

Genetic risk factors for autism include both rare and common variants. A study shows that rare copy number variants and common variants across 16p that contribute to autism risk functionally converge to downregulate the expression of a large group of neuronally expressed genes in the 16p subtelomeric region.

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Fig. 1: Long-range chromatin contacts across the short arm of chromosome 16 may underlie the functional convergence of ASD-related variants.

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Correspondence to Sébastien Jacquemont.

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Won, H., Huguet, G. & Jacquemont, S. Rare and common autism risk variants converge across 16p. Nat Genet 54, 1587–1588 (2022). https://doi.org/10.1038/s41588-022-01219-4

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