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Human genetics

Fruits of exome sequencing for autism

Nature Reviews Genetics volume 13, page 377 (2012)Cite this article

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A role for de novo mutations in ASD has been suggested by previous studies of copy number variation and smaller-scale exome sequencing studies. In the recent studies, Iossifov et al. sequenced 343 family 'quads' (the parents of a single child on the autism spectrum and its unaffected sibling), and Sanders et al. also included 200 quads in the 238 families they sequenced. O'Roak et al. selected 189 trios (a child with ASD and its parents), and Neale et al. also sequenced 175 trios. Although the details differ among the four studies, the findings reveal several shared patterns and interesting leads.

six genes were found to have a gene-disrupting de novo mutation in more than one individual with ASD

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References

ORIGINAL RESEARCH PAPERS

  1. Iossifov, I. et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285–299 (2012)

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  2. Sanders, S. J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 4 Apr 2012 (doi:10.1038/nature10945)

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  3. O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 4 Apr 2012 (doi:10.1038/nature10989)

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  4. Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 4 Apr 2012 (doi:10.1038/nature11011)

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  5. Chahrour, M. H. et al. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 8, e1002635 (2012)

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FURTHER READING

  1. Gibson, G. Rare and common variants: twenty arguments. Nature Rev. Genet. 13, 135–145 (2012)

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Authors
  1. Mary Muers
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Muers, M. Fruits of exome sequencing for autism. Nat Rev Genet 13, 377 (2012). https://doi.org/10.1038/nrg3248

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