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Chunk #64 — Experimental Procedures — Genotyping

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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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All members of each family were analyzed on the same array version: either the Illumina 1Mv1 (334 families) or Illumina 1Mv3 Duo (840 families) Bead-array. These share 1,040,853 probes in common (representing 97% of probes on the IMv1 and 87% of probes on the 1Mv3). 824 or the 872 quartet families (94.5%) had all members hybridized and scanned simultaneously on the Illumina iScan in an effort to minimize batch effects and technical variation.