Chunk #19 — Materials and methods — Genotyping and CNV analysis — Gene set analyses — Statistical approaches

Source

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

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We used the same method to compare the number of genes in gene sets hit by case de novos with those hit by (1) 1367 CNVs from the 605 Bulgarian unaffected controls (2) 59 de novos found in Icelandic controls and (3) 14 control de novos from the unaffected sibs of autism probands.25 The analyses control for different sources of potential bias including array type (the Bulgarian controls) and the possibility that de novos have fundamentally different characteristics (other than size that is adjusted for) than control CNVs.