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Chunk #55 — Discussion

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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Our findings with regard to recurrent de novo events in the SSC sample point to 6 putative ASD loci: two of these, 7q11.23 and 16p11.2, show clear evidence for genome-wide association. Moreover, our simulation analysis suggests that the most likely outcome of the ongoing Phase 2 SSC study will be confirmation of 2-3 of the remaining 4 intervals already showing recurrent de novo events, namely 1q21.1, 15q13.2-13.3, 16p13.2, and 16q23.3 (CDH13).