Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorders

Published July 1, 2010 in Nature, Pinto et al

A genome-wide analysis reveals that people with ASDs carry a higher load of rare copy-number variants — segments of DNA for which the copy number differs between individual genomes — which are either inherited or arise de novo. The results implicate several novel genes as ASD candidates and point to the importance of cellular proliferation, projection and motility as well as specific signalling pathways in this disorder.

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