Article

Large mosaic copy number variations confer autism risk

2020-01-27

Abstract excerpt

Although germline de novo copy number variants are a known cause of autism spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number variants (mCNVs) has not been explored. Here, we assessed the contribution of mCNVs to ASD by ascertaining mCNVs in genotype array intensity data from 12,077 ASD probands and 5,500 unaffected siblings in the Simons Simplex Collection (SSC) and Simons Power...

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Literature Corpus work: 0c8b9057-348c-559a-934a-b00ba53b0a56
DOI: 10.1101/2020.01.22.20017624

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