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Chunk #10 — Results — Illumina 1M arrays accurately detect both rare de novo and transmitted CNVs

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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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31 small rare de novo CNVs were identified between the two groups with approximately twice as many found using the 2.1M Nimblegen array vs. the IM Illumina array (23 CNVs vs. 12 CNVs respectively) as would be expected for the increased probe resolution. Of these 31 events only 13% (n=4) were identified by both groups, suggesting that the sensitivity for small de novo events was low for both arrays and that, as expected, there is a pool of small de novo structural events that were not considered in our analyses.