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Rare and common autism risk variants converge across 16p

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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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Author information

Authors and Affiliations

  1. Department of Genetics and the Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

    Hyejung Won

  2. Sainte Justine University Hospital Research Center, Montreal, Quebec, Canada

    Guillaume Huguet & Sébastien Jacquemont

  3. Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada

    Sébastien Jacquemont

Authors
  1. Hyejung Won
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  2. Guillaume Huguet
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  3. Sébastien Jacquemont
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Corresponding author

Correspondence to Sébastien Jacquemont.

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The authors declare no competing interests.

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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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